Background: Ecthyma gangrenosum (EG) is an infrequent and discernible cutaneous disease caused by Pseudomonas aeruginosa. In situations where it is associated with septicemia in debilitated patients, the prognosis is ...Background: Ecthyma gangrenosum (EG) is an infrequent and discernible cutaneous disease caused by Pseudomonas aeruginosa. In situations where it is associated with septicemia in debilitated patients, the prognosis is usually unfavorable. Objective: In this case, we aim to verify risk factors, clinical, bacteriological and therapeutic characteristics of ecthyma gangrenosum and we review the literature to highlight the features of this rare condition and discuss the role of early diagnosis and treatment. Case Report: We describe the clinical case of a 4-year-old male with bone marrow aplasia who was presented with characteristic skin lesions of EG and developed sepsis later. Conclusion: EG is a cutaneous disease characterized by its aggressive nature. The presence of delayed diagnosis and therapy, along with sepsis, is closely linked to a high mortality rate. Treatment is empirically founded on an aggressive initial approach.展开更多
Pure red cell aplasia （PRCA） due to parvovirus B19 （PVB19） infectiori after solid organ transplantation has been rarely reported and most of the cases were renal transplant recipients, Few have been described afte...Pure red cell aplasia （PRCA） due to parvovirus B19 （PVB19） infectiori after solid organ transplantation has been rarely reported and most of the cases were renal transplant recipients, Few have been described after liver transplantation. Moreover, little information on the management of this easily recurring disease is available at present. We describe the first case of a Chinese liver transplant recipient with PVB19-induced PRCA during immunosuppressive therapy. The patient suffered from progressive anemia with the lowest hemoglobin level of 21 g/L. Bone marrow biopsy showed selectively inhibited erythropoiesis with giant pronormoblasts. Detection of PVB19-DNA in serum with quantitative polymerase chain reaction （PCR） revealed a high level of viral load. After 2 courses of intravenous immunoglobulin （IVIG） therapy, bone marrow erythropoiesis recovered with his hemoglobin level increased to 123 g/L. He had a lowlevel PVB19 load for a 5-too follow-up period without recurrence of PRCA, and finally the virus was cleared. Our case indicates that clearance of PVB19 by IVIG in transplant recipients might be delayed after recovery of anemia.展开更多
BACKGROUND Aplasia cutis congenita (ACC) in newborns is a condition in which congenital defects or hypoplasia is present in part of the epidermis,dermis and even subcutaneous tissue (including muscle and bones).First ...BACKGROUND Aplasia cutis congenita (ACC) in newborns is a condition in which congenital defects or hypoplasia is present in part of the epidermis,dermis and even subcutaneous tissue (including muscle and bones).First reported by Cordon in 1767,ACC is a rare disease with a low incidence of 1/100000 to 3/10000.Currently,there are 500 cases reported worldwide.ACC can be accompanied by other malformations.The onset mechanism of the disease remains unknown but is thought to be correlated to factors such as genetics,narrow uterus,foetal skin and amniotic membrane adhesion,use of teratogenic drugs in early pregnancy and viral infection.CASE SUMMARY In August 2018,we treated a newborn with ACC on the left lower limbs using a combination of ionic silver dressing and moist exposed burn ointment (MEBO) and achieved a satisfactory treatment outcome.The skin defects were observed on the external genitals and on areas from the left foot to 3/4 of the upper left side.Subcutaneous tissue and blood vessels were observed in the regions with skin defects.The following treatments were provided.First,the wound was rinsed with 0.9% sodium chloride solution followed by disinfection with povidone-iodine twice.And then MEBO was applied to the wound at a thickness of approximately 1 mm.After applying ionic silver dressing,the wound was covered with sterile gauze.The wound dressing was replaced every 2-3 d.At the 4-mo follow-up,the treatment outcome was satisfactory.There was minimal scar tissue formation,and limb function was not impaired.CONCLUSION The combination of ionic silver dressing and MEBO to ACC is helpful.展开更多
MANY cases of pure red cell aplasia （PRCA） were mediated by over-function of immune cells, and responded well to immunosuppressive therapy. Sometimes refractory cases also arose. Fludarabine is an analogue of adenos...MANY cases of pure red cell aplasia （PRCA） were mediated by over-function of immune cells, and responded well to immunosuppressive therapy. Sometimes refractory cases also arose. Fludarabine is an analogue of adenosine resistant to deamination which is widely used for B-chronic lymphocytic leukemia （CLL） and other hematological malignancies.^2 As a strong immunosuppressive agent, fludarabine has generally been used in nonmyeloblative conditioning regimens for hematopoietic stem cells transplantation for hematological malignancies and severe aplastic anemia recently.^3 In this study,展开更多
Pure red cell aplasia (PRCA) is a rare hematological disorder which is characterized by severe anemia,reticulocytopenia and almost complete absence of erythroid precursors in bone marrow.The pathophysiology of PRCA ma...Pure red cell aplasia (PRCA) is a rare hematological disorder which is characterized by severe anemia,reticulocytopenia and almost complete absence of erythroid precursors in bone marrow.The pathophysiology of PRCA may be congenital or acquired.To our knowledge,there is only one case report in the English literature of PRCA after pegylated interferon combination therapy for chronic hepatitis C.We report a second case of PRCA after pegylated interferon combination treatment for chronic hepatitis C.The diagnosis of PRCA was confirmed by the typical findings of bone marrow biopsy.The possible etiologies of our case are also discussed in this paper.展开更多
The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are recei...The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are received within 6 weeks of the time the article was published. Authors of the article being commented on will be given an opportunity to offer a timely response to the letter. Authors of letters will be notified that the letter has been received. Unpublished letters cannot be returned.展开更多
Angioimmunoblastic T-cell lymphoma(AITL)is a unique type of peripheral T-cell lymphoma with a constellation of clinical symptoms and signs,including weight loss,fever,chills,anemia,skin rash,hepatosplenomegaly,lymphad...Angioimmunoblastic T-cell lymphoma(AITL)is a unique type of peripheral T-cell lymphoma with a constellation of clinical symptoms and signs,including weight loss,fever,chills,anemia,skin rash,hepatosplenomegaly,lymphadenopathy,thrombocytopenia and polyclonal hypergammaglobulinemia.The histological features of AITL are also distinctive.Pure red cell aplasia is a bone marrow failure characterized by progressive normocytic anemia and reticulocytopenia without leucopenia or thrombocytopenia.However,AITL with abdominal pain and pure red cell aplasia has rarely been reported.Here,we report a rare case of AITL-associated pure red cell aplasia with abdominal pain.The diagnosis was verified by a biopsy of the enlarged abdominal lymph nodes with immunohistochemical staining.展开更多
Aplasia Cutis Congenita (ACC) is a rare condition characterized by absence of skin layers, usually on the scalp, but can also affect the foot. ACC can occur as an isolated condition or in the presence of the other con...Aplasia Cutis Congenita (ACC) is a rare condition characterized by absence of skin layers, usually on the scalp, but can also affect the foot. ACC can occur as an isolated condition or in the presence of the other congenital anomalies. Here we describe a case of a 1-day-old baby boy with an isolated ACC of the left foot, with no family or siblings positive disease history. The patient was managed by both conservatively and surgically until the defect has formed scar tissue 5 months later.展开更多
Congenital anomalies of the female tubular genital tract are rare and known as segmental aplasia, resulting from incomplete development of paramesonephric ducts during embryonic stage, which originate from the cranial...Congenital anomalies of the female tubular genital tract are rare and known as segmental aplasia, resulting from incomplete development of paramesonephric ducts during embryonic stage, which originate from the cranial portion of vagina, cervix, uterus and oviducts. In the literature consulted, several reports of uterine horn aplasia are described in bitches, however there is only one report described in the world literature on total aplasia of the body of the uterus. This study aimed to describe the case of a two years old bitch, no breed defined, with 12 kg of weight, with segmental aplasia of uterus body diagnosed during ovariohysterectomy. During surgery it was noted that the bitch had the ovaries and uterine horns in their anatomical position, however an aplasia was noted in the body of the uterus. It was also found that the uterine horns had liquid inside, suggesting hydrometra. It was concluded in this case that although segmental aplasia of the body of the uterus is rare and difficult to diagnose by maintaining normal cyclicity of the female, it should be considered in dogs that do not have bloody vaginal discharge in proestrus and can not become pregnant after natural coverage or artificial insemination.展开更多
BACKGROUND Cyclosporine is an immunosuppressive agent used effectively for treatment of a rare haematological disorder known as medullary aplasia.This drug prevents several side effects,including gingival enlargement(...BACKGROUND Cyclosporine is an immunosuppressive agent used effectively for treatment of a rare haematological disorder known as medullary aplasia.This drug prevents several side effects,including gingival enlargement(GE)which compromises aesthetics,phonetics and chewing,and also predisposes patients to periodontitis.CASE SUMMARY This clinical case reports a 41-year-old woman who presented with cyclosporineinduced GE with underlying periodontitis and medullary aplasia.The management of the disease was approached through multidisciplinary strategy which allowed for accurate diagnosis and a strategic treatment based on the systemic condition and severity of oral pathology.The diagnosis was confirmed through histopathological analysis.The treatment was carried out in phases:Initial(oral hygiene motivation,mechanical supragingival plaque control,and non-surgical therapy);systemic treatment,corrective treatment,and maintenance.CONCLUSION Multidisciplinary management of cyclosporine-induced GE and medullary aplasia allows for correct diagnosis and effective treatment of this pathological expression through a phased therapeutic approach.展开更多
Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossifica...Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossification. Different clinical phenotypes may be related to variable severity both of aplasia cutis and TTLD, and of minor clinical features as cutis marmorata telangiectatica congenita (CMTC), congenital cardiac defect and vascular anomalies. The treatment is multidisciplinary: dermatologic, orthopedic and surgical consult should be required. It still remains unclear how to treat patients with a large skin defect that can‘t be closed primarly and may require both surgical and conservative management. We report two cases of AOS with typical limb defects and an area of aplasia cutis over vertex of the scalp managed conservatively with two different dermatologic devices.展开更多
BACKGROUND T-cell large granular lymphocytic leukemia(T-LGLL)is a rare type of aplastic anemia with diverse clinical manifestations.Concomitant diseases are often present at the first manifestation.We describe the tre...BACKGROUND T-cell large granular lymphocytic leukemia(T-LGLL)is a rare type of aplastic anemia with diverse clinical manifestations.Concomitant diseases are often present at the first manifestation.We describe the treatment of a patient with CD57-negativeγδT-LGLL with pure red cell aplasia(PRCA).CASE SUMMARY A 34-year-old woman with a 20-year history of anemia visited our hospital owing to severe dizziness and was admitted.Her condition was diagnosed as CD57-negativeγδT-LGLL with PRCA through bone marrow cytology,bone marrow pathology,bone marrow flow cytometry,bone marrow multiplex polymerase chain reaction combined with fluorescent fragment analysis,and other tests.Treatment with prednisone,methotrexate,and subcutaneous erythropoietin did not significantly change her hemoglobin level.After treatment with oral cyclophosphamide for 3 mo,her hemoglobin level increased to approximately 100 g/L.After 5 mo of treatment,the patient could perform activities of daily living independently.CONCLUSION The treatment of CD57-negativeγδT-LGLL with PRCA with cyclophosphamide helps to improve prognosis.展开更多
BACKGROUND Angioimmunoblastic T-cell lymphoma(AITL)is a peripheral T-cell lymphoma,which is a rare subtype of lymphoma.Patients with AITL often have skin lesions,which are observed in 50%of all cases;the chief complai...BACKGROUND Angioimmunoblastic T-cell lymphoma(AITL)is a peripheral T-cell lymphoma,which is a rare subtype of lymphoma.Patients with AITL often have skin lesions,which are observed in 50%of all cases;the chief complaint of this patient was palpable purpura.AITL often complicates autoimmune or hematological disorders;however,among these,pure red cell aplasia(PRCA)is a very rare complication of AITL.We herein report a case of AITL with PRCA.CASE SUMMARY A 77-year-old Japanese man presented to our hospital with complaints of loss of appetite for 2 mo and a 10-d history of palpable purpura.On physical examination,the patient was afebrile but had bilateral multiple palpable purpuric lesions over the lower extremities,lower abdomen,and part of the upper extremities.Moreover,lymphadenopathy of the bilateral inguinal,cervical,and supraclavicular nodes was noted.Laboratory and imaging studies and skin biopsy were conducted but were inconclusive.Based on inguinal lymph node excisional biopsy,we diagnosed the patient with AITL.Subsequently,the patient developed progressive normocytic normochromic anemia that necessitated almost daily blood transfusion.The clinical presentations and results of bone marrow assessment were consistent with those of PRCA,which is associated with AITL.Chemotherapy was initiated but was not effective.The patient refused further chemotherapy and opted to continue receiving best supportive care.CONCLUSION PRCA is an extremely rare complication of AITL.As the pathophysiology remains unclear,further research is warranted.展开更多
Introduction: Aplasia cutis congenita is a rare congenital dermatosis of which type VI represents the Bart’s syndrome. The aim of this case is to describe the epidemiological, clinical, therapeutic and prognostic cha...Introduction: Aplasia cutis congenita is a rare congenital dermatosis of which type VI represents the Bart’s syndrome. The aim of this case is to describe the epidemiological, clinical, therapeutic and prognostic characteristics of this condition in a country with limited resources, for the improvement of prognosis and professional practice. Observation: This is a eutrophic newborn, born at term by vaginal delivery, who presented at birth with a unilateral absence of skin on the anteromedial aspect of the right leg starting from the knee and extending to the medial aspect of the right foot, with a dystrophy of the nail of the right big toe without any other visible physical malformation. The evolution was marked at D3 of life by the appearance of bullae on the right hand and elbow as well as on the posterior aspect of the neck, making epidermolysis bullosa suspect. The mother was 38 years old, 8<sup>th</sup> gesture, 7<sup>th</sup> pare with history of consanguinity and collodion baby. The association of a localized congenital absence of skin on the lower limbs, epidermolysis bullosa and a nail anomaly led to the diagnosis of congenital cutaneous aplasia of type VI of Frieden’s classification or Bart’s syndrome. The evolution was satisfactory on the 7<sup>th</sup> day of life with the beginning of scarring. The management was medical. The outcome was unfavorable with the appearance of sepsis and hemorrhage leading to death. Conclusion: Although rare, the clinical diagnosis of Bart’s syndrome is simple. However, the management is complex and the prognosis is reserved. To improve this prognosis, the treatment must guarantee excellent control of the infectious and hemorrhagic risks, an adhesion and good therapeutic compliance by the parents and a rigorous monitoring.展开更多
Objectives: The main objective was to study the epidemiological, diagnostic and therapeutic aspects of medullary aplasia (MA). Methods: This was a prospective and descriptive retro study conducted from January 1, 2008...Objectives: The main objective was to study the epidemiological, diagnostic and therapeutic aspects of medullary aplasia (MA). Methods: This was a prospective and descriptive retro study conducted from January 1, 2008 to December 31, 2018 in the pediatric oncology unit of the pediatrics department of the Gabriel Touré teaching Hospital in Bamako. Results: We collected 29 children’s cases out of 1632 admissions during the study period, representing a frequency of 1.8% and an incidence of 2.6 cases per year. The sex ratio was 2.6. The 11 - 15 age group accounted for 45%, with an average age of 8.93 years. The majority of fathers (55.2%) and mothers (62.1%) had received no education;they were mainly farmers (62.1%) and housewives (86.2%). The average consultation time was 92.21 days. Anemia was the reason for consultation in 69% of cases. Pallor was present on admission in 96.5%;infectious syndrome accounted for 79.3%, anemic syndrome for 51.7% and hemorrhagic syndrome for 27.6%;the three syndromes were associated in 27.6%. Malaria was associated with bone marrow aplasia in 58.6%. Anemia was present in 93.1%, neutropenia in 65.5% and thrombocytopenia in 86.2%. All had received a labile blood product (LBP) transfusion, and 24 (83%) had received antibiotics. Patients were treated with corticosteroids (58.6%), androgens (20.7%) and immunosuppressants (20.7%). The death rate was 34.6%. At last count, 15 (83%) had discontinued treatment, 2 (11%) were undergoing treatment and 1 (6%) was in remission. Conclusion: Effective treatment of MA requires improved technical facilities and better economic conditions for parents.展开更多
Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impac...Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.展开更多
Aplasia cutis congenita(ACC)is a rare disease that is characterized by complete or partial absence of skin at birth,either in a localized or widespread region.Melanocytic nevi refers to tumor-like malformations of the...Aplasia cutis congenita(ACC)is a rare disease that is characterized by complete or partial absence of skin at birth,either in a localized or widespread region.Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused by benign proliferation of melanocytes.It is classified as a giant congenital melanocytic nevus(GCMN)when the diameter of the largest nevus exceeds 20 cm.The co-occurrence of ACC and GCMN is extremely rare,to the best of our knowledge.We report a case of coexistence of ACC and GCMN of infancy in a 2-month-old male infant.The lesions consisted of a large hyperpigmented plaque occupying most of the trunk and pelvic region,and smaller hyperpigmented plaques on the trunk,head,and extremities.Additionally,there were large,sharply marginated,triangular,depressed atrophic plaques covered by thin,translucent,glistening epithelial membranes in the center of the GCMN on the back.The presumptive diagnosis was coexistence of GCMN and ACC.This could be a manifestation of SCALP syndrome,a rare neuro-cutaneous condition characterized by the presence of Sebaceous nevus,Central nervous system(CNS)malformations,Aplasia cutis congenita,Limbal dermoid and Pigmented(giant melanocytic)nevus.展开更多
目的评价西罗莫司对获得性纯红细胞再生障碍性贫血(acquired Pure Red Cell Aplasia,aPRCA)的疗效及安全性。方法以“西罗莫司”、“aPRCA”和“治疗”作为关键词,按自由词和主题词结合的检索策略分别在PubMed、Cochrane Library、Embas...目的评价西罗莫司对获得性纯红细胞再生障碍性贫血(acquired Pure Red Cell Aplasia,aPRCA)的疗效及安全性。方法以“西罗莫司”、“aPRCA”和“治疗”作为关键词,按自由词和主题词结合的检索策略分别在PubMed、Cochrane Library、Embase、Web of Science等英文数据库和中国知网、万方等国内医学数据库进行检索,检索时限为自数据库建库以来至2024年8月。严格按照纳排标准筛选西罗莫司治疗aPRCA相关文献,采用STATA/MP16进行荟萃分析。根据异质性检验I2和Q检验结果,用固定效应模型或随机效应模型分析不同用药时间内西罗莫司在aPRCA中的有效率、完全缓解率以及相关并发症的发生率。最后用Begg′s和Egger′s检验和漏斗图评估纳入文献的发表偏倚。结果共纳入6篇文献,荟萃分析结果提示西罗莫司对aPRCA的有效率为73.4%(95%CI:0.651~0.811),完全缓解率为55.7%(95%CI:0.415~0.696);排除因缓解后、严重并发症停药等患者,在10月用药时间内西罗莫司的有效率高达79.8%(95%CI:0.720~0.868),完全缓解率为60.2%(95%CI:0.490~0.709);西罗莫司治疗aPRCA不良反应发生率15.1%(95%CI:0.043~0.294),因不良反应危及生命及停药情况非常少见。结论西罗莫司对aPRCA的治疗具有良好的疗效和安全性。展开更多
Al-month-old boy was transferred postpartum from an outside hospital. The boy weighing 3.2 kg andmeasuring 50 cm long was born after an uneventful, first pregnancy at term by caesarean section. The mother was given or...Al-month-old boy was transferred postpartum from an outside hospital. The boy weighing 3.2 kg andmeasuring 50 cm long was born after an uneventful, first pregnancy at term by caesarean section. The mother was given oral medication for a week to treat diarrhea in the fifth month of pregnancy. At birth he was found to have a huge scalp defect covered only with a transparent membrane that covered the underlying brain. The wound gradually desiccated and formed an eschar.展开更多
Variants in the solute carrier family 40 member 1(SLC40A1)gene are the molecular basis of ferroportin disease,which is an autosomal dominant hereditary hemochromatosis.Here,we present a patient with pure red cell apla...Variants in the solute carrier family 40 member 1(SLC40A1)gene are the molecular basis of ferroportin disease,which is an autosomal dominant hereditary hemochromatosis.Here,we present a patient with pure red cell aplasia(PRCA)and large granular lymphocytic leukemia(LGLL)associated with an extremely high levels of serum ferritin and iron overload syndrome.Whole exon sequencing revealed a novel heterozygous variant in SLC40A1(p.T419I),which was found in his daughter as well.A series of functional studies in vitro of the T419I variant in ferroportin were conducted and the results revealed a reduced capacity of iron export from cells without changes in protein localization and its sensitivity to hepcidin.Intracellular iron storage in mutated cells was significantly higher than that of wild-type.These findings suggest that the novel variant p.T419I can cause the classical form of ferroportin disease and an elevated intracellular iron level indicates a potential novel pathogenic mechanism underlying PRCA and LGLL.展开更多
文摘Background: Ecthyma gangrenosum (EG) is an infrequent and discernible cutaneous disease caused by Pseudomonas aeruginosa. In situations where it is associated with septicemia in debilitated patients, the prognosis is usually unfavorable. Objective: In this case, we aim to verify risk factors, clinical, bacteriological and therapeutic characteristics of ecthyma gangrenosum and we review the literature to highlight the features of this rare condition and discuss the role of early diagnosis and treatment. Case Report: We describe the clinical case of a 4-year-old male with bone marrow aplasia who was presented with characteristic skin lesions of EG and developed sepsis later. Conclusion: EG is a cutaneous disease characterized by its aggressive nature. The presence of delayed diagnosis and therapy, along with sepsis, is closely linked to a high mortality rate. Treatment is empirically founded on an aggressive initial approach.
文摘Pure red cell aplasia （PRCA） due to parvovirus B19 （PVB19） infectiori after solid organ transplantation has been rarely reported and most of the cases were renal transplant recipients, Few have been described after liver transplantation. Moreover, little information on the management of this easily recurring disease is available at present. We describe the first case of a Chinese liver transplant recipient with PVB19-induced PRCA during immunosuppressive therapy. The patient suffered from progressive anemia with the lowest hemoglobin level of 21 g/L. Bone marrow biopsy showed selectively inhibited erythropoiesis with giant pronormoblasts. Detection of PVB19-DNA in serum with quantitative polymerase chain reaction （PCR） revealed a high level of viral load. After 2 courses of intravenous immunoglobulin （IVIG） therapy, bone marrow erythropoiesis recovered with his hemoglobin level increased to 123 g/L. He had a lowlevel PVB19 load for a 5-too follow-up period without recurrence of PRCA, and finally the virus was cleared. Our case indicates that clearance of PVB19 by IVIG in transplant recipients might be delayed after recovery of anemia.
文摘BACKGROUND Aplasia cutis congenita (ACC) in newborns is a condition in which congenital defects or hypoplasia is present in part of the epidermis,dermis and even subcutaneous tissue (including muscle and bones).First reported by Cordon in 1767,ACC is a rare disease with a low incidence of 1/100000 to 3/10000.Currently,there are 500 cases reported worldwide.ACC can be accompanied by other malformations.The onset mechanism of the disease remains unknown but is thought to be correlated to factors such as genetics,narrow uterus,foetal skin and amniotic membrane adhesion,use of teratogenic drugs in early pregnancy and viral infection.CASE SUMMARY In August 2018,we treated a newborn with ACC on the left lower limbs using a combination of ionic silver dressing and moist exposed burn ointment (MEBO) and achieved a satisfactory treatment outcome.The skin defects were observed on the external genitals and on areas from the left foot to 3/4 of the upper left side.Subcutaneous tissue and blood vessels were observed in the regions with skin defects.The following treatments were provided.First,the wound was rinsed with 0.9% sodium chloride solution followed by disinfection with povidone-iodine twice.And then MEBO was applied to the wound at a thickness of approximately 1 mm.After applying ionic silver dressing,the wound was covered with sterile gauze.The wound dressing was replaced every 2-3 d.At the 4-mo follow-up,the treatment outcome was satisfactory.There was minimal scar tissue formation,and limb function was not impaired.CONCLUSION The combination of ionic silver dressing and MEBO to ACC is helpful.
基金Supported by the Natural Science Foundation of Jiangsu Province(2004BK424)the 135 Key Department Fund of Jiangsu Province(135XY0416)the Outstanding Person Fund of the First Affiliated Hospital of Soochow University(2004YQG05)
文摘MANY cases of pure red cell aplasia （PRCA） were mediated by over-function of immune cells, and responded well to immunosuppressive therapy. Sometimes refractory cases also arose. Fludarabine is an analogue of adenosine resistant to deamination which is widely used for B-chronic lymphocytic leukemia （CLL） and other hematological malignancies.^2 As a strong immunosuppressive agent, fludarabine has generally been used in nonmyeloblative conditioning regimens for hematopoietic stem cells transplantation for hematological malignancies and severe aplastic anemia recently.^3 In this study,
文摘Pure red cell aplasia (PRCA) is a rare hematological disorder which is characterized by severe anemia,reticulocytopenia and almost complete absence of erythroid precursors in bone marrow.The pathophysiology of PRCA may be congenital or acquired.To our knowledge,there is only one case report in the English literature of PRCA after pegylated interferon combination therapy for chronic hepatitis C.We report a second case of PRCA after pegylated interferon combination treatment for chronic hepatitis C.The diagnosis of PRCA was confirmed by the typical findings of bone marrow biopsy.The possible etiologies of our case are also discussed in this paper.
文摘The Editor welcomes submissions for possible publication in the Letters to the Editor section. Letters commenting on an article published in the Journal or other interesting pieces will be considered if they are received within 6 weeks of the time the article was published. Authors of the article being commented on will be given an opportunity to offer a timely response to the letter. Authors of letters will be notified that the letter has been received. Unpublished letters cannot be returned.
文摘Angioimmunoblastic T-cell lymphoma(AITL)is a unique type of peripheral T-cell lymphoma with a constellation of clinical symptoms and signs,including weight loss,fever,chills,anemia,skin rash,hepatosplenomegaly,lymphadenopathy,thrombocytopenia and polyclonal hypergammaglobulinemia.The histological features of AITL are also distinctive.Pure red cell aplasia is a bone marrow failure characterized by progressive normocytic anemia and reticulocytopenia without leucopenia or thrombocytopenia.However,AITL with abdominal pain and pure red cell aplasia has rarely been reported.Here,we report a rare case of AITL-associated pure red cell aplasia with abdominal pain.The diagnosis was verified by a biopsy of the enlarged abdominal lymph nodes with immunohistochemical staining.
文摘Aplasia Cutis Congenita (ACC) is a rare condition characterized by absence of skin layers, usually on the scalp, but can also affect the foot. ACC can occur as an isolated condition or in the presence of the other congenital anomalies. Here we describe a case of a 1-day-old baby boy with an isolated ACC of the left foot, with no family or siblings positive disease history. The patient was managed by both conservatively and surgically until the defect has formed scar tissue 5 months later.
文摘Congenital anomalies of the female tubular genital tract are rare and known as segmental aplasia, resulting from incomplete development of paramesonephric ducts during embryonic stage, which originate from the cranial portion of vagina, cervix, uterus and oviducts. In the literature consulted, several reports of uterine horn aplasia are described in bitches, however there is only one report described in the world literature on total aplasia of the body of the uterus. This study aimed to describe the case of a two years old bitch, no breed defined, with 12 kg of weight, with segmental aplasia of uterus body diagnosed during ovariohysterectomy. During surgery it was noted that the bitch had the ovaries and uterine horns in their anatomical position, however an aplasia was noted in the body of the uterus. It was also found that the uterine horns had liquid inside, suggesting hydrometra. It was concluded in this case that although segmental aplasia of the body of the uterus is rare and difficult to diagnose by maintaining normal cyclicity of the female, it should be considered in dogs that do not have bloody vaginal discharge in proestrus and can not become pregnant after natural coverage or artificial insemination.
文摘BACKGROUND Cyclosporine is an immunosuppressive agent used effectively for treatment of a rare haematological disorder known as medullary aplasia.This drug prevents several side effects,including gingival enlargement(GE)which compromises aesthetics,phonetics and chewing,and also predisposes patients to periodontitis.CASE SUMMARY This clinical case reports a 41-year-old woman who presented with cyclosporineinduced GE with underlying periodontitis and medullary aplasia.The management of the disease was approached through multidisciplinary strategy which allowed for accurate diagnosis and a strategic treatment based on the systemic condition and severity of oral pathology.The diagnosis was confirmed through histopathological analysis.The treatment was carried out in phases:Initial(oral hygiene motivation,mechanical supragingival plaque control,and non-surgical therapy);systemic treatment,corrective treatment,and maintenance.CONCLUSION Multidisciplinary management of cyclosporine-induced GE and medullary aplasia allows for correct diagnosis and effective treatment of this pathological expression through a phased therapeutic approach.
文摘Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD), often accompanied by defects in scalp and skull ossification. Different clinical phenotypes may be related to variable severity both of aplasia cutis and TTLD, and of minor clinical features as cutis marmorata telangiectatica congenita (CMTC), congenital cardiac defect and vascular anomalies. The treatment is multidisciplinary: dermatologic, orthopedic and surgical consult should be required. It still remains unclear how to treat patients with a large skin defect that can‘t be closed primarly and may require both surgical and conservative management. We report two cases of AOS with typical limb defects and an area of aplasia cutis over vertex of the scalp managed conservatively with two different dermatologic devices.
基金Supported by Xiamen Medical and Health Guidance Project,No.3502Z20199137Fujian Medical and Health Training Project for Young and Middle-aged Backbone Talents,No.2020GGB068Educational and Scientific Research Program for Young and Middle-Aged Teachers of Fujian Province,No.JAT190838.
文摘BACKGROUND T-cell large granular lymphocytic leukemia(T-LGLL)is a rare type of aplastic anemia with diverse clinical manifestations.Concomitant diseases are often present at the first manifestation.We describe the treatment of a patient with CD57-negativeγδT-LGLL with pure red cell aplasia(PRCA).CASE SUMMARY A 34-year-old woman with a 20-year history of anemia visited our hospital owing to severe dizziness and was admitted.Her condition was diagnosed as CD57-negativeγδT-LGLL with PRCA through bone marrow cytology,bone marrow pathology,bone marrow flow cytometry,bone marrow multiplex polymerase chain reaction combined with fluorescent fragment analysis,and other tests.Treatment with prednisone,methotrexate,and subcutaneous erythropoietin did not significantly change her hemoglobin level.After treatment with oral cyclophosphamide for 3 mo,her hemoglobin level increased to approximately 100 g/L.After 5 mo of treatment,the patient could perform activities of daily living independently.CONCLUSION The treatment of CD57-negativeγδT-LGLL with PRCA with cyclophosphamide helps to improve prognosis.
文摘BACKGROUND Angioimmunoblastic T-cell lymphoma(AITL)is a peripheral T-cell lymphoma,which is a rare subtype of lymphoma.Patients with AITL often have skin lesions,which are observed in 50%of all cases;the chief complaint of this patient was palpable purpura.AITL often complicates autoimmune or hematological disorders;however,among these,pure red cell aplasia(PRCA)is a very rare complication of AITL.We herein report a case of AITL with PRCA.CASE SUMMARY A 77-year-old Japanese man presented to our hospital with complaints of loss of appetite for 2 mo and a 10-d history of palpable purpura.On physical examination,the patient was afebrile but had bilateral multiple palpable purpuric lesions over the lower extremities,lower abdomen,and part of the upper extremities.Moreover,lymphadenopathy of the bilateral inguinal,cervical,and supraclavicular nodes was noted.Laboratory and imaging studies and skin biopsy were conducted but were inconclusive.Based on inguinal lymph node excisional biopsy,we diagnosed the patient with AITL.Subsequently,the patient developed progressive normocytic normochromic anemia that necessitated almost daily blood transfusion.The clinical presentations and results of bone marrow assessment were consistent with those of PRCA,which is associated with AITL.Chemotherapy was initiated but was not effective.The patient refused further chemotherapy and opted to continue receiving best supportive care.CONCLUSION PRCA is an extremely rare complication of AITL.As the pathophysiology remains unclear,further research is warranted.
文摘Introduction: Aplasia cutis congenita is a rare congenital dermatosis of which type VI represents the Bart’s syndrome. The aim of this case is to describe the epidemiological, clinical, therapeutic and prognostic characteristics of this condition in a country with limited resources, for the improvement of prognosis and professional practice. Observation: This is a eutrophic newborn, born at term by vaginal delivery, who presented at birth with a unilateral absence of skin on the anteromedial aspect of the right leg starting from the knee and extending to the medial aspect of the right foot, with a dystrophy of the nail of the right big toe without any other visible physical malformation. The evolution was marked at D3 of life by the appearance of bullae on the right hand and elbow as well as on the posterior aspect of the neck, making epidermolysis bullosa suspect. The mother was 38 years old, 8<sup>th</sup> gesture, 7<sup>th</sup> pare with history of consanguinity and collodion baby. The association of a localized congenital absence of skin on the lower limbs, epidermolysis bullosa and a nail anomaly led to the diagnosis of congenital cutaneous aplasia of type VI of Frieden’s classification or Bart’s syndrome. The evolution was satisfactory on the 7<sup>th</sup> day of life with the beginning of scarring. The management was medical. The outcome was unfavorable with the appearance of sepsis and hemorrhage leading to death. Conclusion: Although rare, the clinical diagnosis of Bart’s syndrome is simple. However, the management is complex and the prognosis is reserved. To improve this prognosis, the treatment must guarantee excellent control of the infectious and hemorrhagic risks, an adhesion and good therapeutic compliance by the parents and a rigorous monitoring.
文摘Objectives: The main objective was to study the epidemiological, diagnostic and therapeutic aspects of medullary aplasia (MA). Methods: This was a prospective and descriptive retro study conducted from January 1, 2008 to December 31, 2018 in the pediatric oncology unit of the pediatrics department of the Gabriel Touré teaching Hospital in Bamako. Results: We collected 29 children’s cases out of 1632 admissions during the study period, representing a frequency of 1.8% and an incidence of 2.6 cases per year. The sex ratio was 2.6. The 11 - 15 age group accounted for 45%, with an average age of 8.93 years. The majority of fathers (55.2%) and mothers (62.1%) had received no education;they were mainly farmers (62.1%) and housewives (86.2%). The average consultation time was 92.21 days. Anemia was the reason for consultation in 69% of cases. Pallor was present on admission in 96.5%;infectious syndrome accounted for 79.3%, anemic syndrome for 51.7% and hemorrhagic syndrome for 27.6%;the three syndromes were associated in 27.6%. Malaria was associated with bone marrow aplasia in 58.6%. Anemia was present in 93.1%, neutropenia in 65.5% and thrombocytopenia in 86.2%. All had received a labile blood product (LBP) transfusion, and 24 (83%) had received antibiotics. Patients were treated with corticosteroids (58.6%), androgens (20.7%) and immunosuppressants (20.7%). The death rate was 34.6%. At last count, 15 (83%) had discontinued treatment, 2 (11%) were undergoing treatment and 1 (6%) was in remission. Conclusion: Effective treatment of MA requires improved technical facilities and better economic conditions for parents.
文摘Introduction: The congenital malformations of the ear are rare and often isolated, may be unilateral or bilateral, and can be associated with another syndromic malformation. Such malformations so not necessarily impact aesthetics and social relations. Case Presentation: The authors report the case of Samuel M, male born at 38 WA, who is the first child of healthy parents from the same socio-cultural area. His birth weight was 2800 g and he did not have any risk factors for deafness or concept of obstetrical trauma. He presented with congenital malformation manifesting as bilateral ear aplasia with unilateral facial paralysis. Computed tomography revealed abnormalities of the inner ear;functional explorations, such as PEA and OEA, showed findings in favor of bilateral cophosis. ASSR (Auditory Steady-State Responses) was not performed. The announcement of the serious diagnosis of deafness requires multidisciplinary care in order to plan a therapeutic program to limit the impact on the development of language, schooling, and consequently, the socio-professional future of children. Conclusion: This clinical case underlines the fact that interest of the clinical interview before possible multiple surgery does not always guarantee the satisfaction of the desire for repair in this type of patient.
文摘Aplasia cutis congenita(ACC)is a rare disease that is characterized by complete or partial absence of skin at birth,either in a localized or widespread region.Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused by benign proliferation of melanocytes.It is classified as a giant congenital melanocytic nevus(GCMN)when the diameter of the largest nevus exceeds 20 cm.The co-occurrence of ACC and GCMN is extremely rare,to the best of our knowledge.We report a case of coexistence of ACC and GCMN of infancy in a 2-month-old male infant.The lesions consisted of a large hyperpigmented plaque occupying most of the trunk and pelvic region,and smaller hyperpigmented plaques on the trunk,head,and extremities.Additionally,there were large,sharply marginated,triangular,depressed atrophic plaques covered by thin,translucent,glistening epithelial membranes in the center of the GCMN on the back.The presumptive diagnosis was coexistence of GCMN and ACC.This could be a manifestation of SCALP syndrome,a rare neuro-cutaneous condition characterized by the presence of Sebaceous nevus,Central nervous system(CNS)malformations,Aplasia cutis congenita,Limbal dermoid and Pigmented(giant melanocytic)nevus.
文摘目的评价西罗莫司对获得性纯红细胞再生障碍性贫血(acquired Pure Red Cell Aplasia,aPRCA)的疗效及安全性。方法以“西罗莫司”、“aPRCA”和“治疗”作为关键词,按自由词和主题词结合的检索策略分别在PubMed、Cochrane Library、Embase、Web of Science等英文数据库和中国知网、万方等国内医学数据库进行检索,检索时限为自数据库建库以来至2024年8月。严格按照纳排标准筛选西罗莫司治疗aPRCA相关文献,采用STATA/MP16进行荟萃分析。根据异质性检验I2和Q检验结果,用固定效应模型或随机效应模型分析不同用药时间内西罗莫司在aPRCA中的有效率、完全缓解率以及相关并发症的发生率。最后用Begg′s和Egger′s检验和漏斗图评估纳入文献的发表偏倚。结果共纳入6篇文献,荟萃分析结果提示西罗莫司对aPRCA的有效率为73.4%(95%CI:0.651~0.811),完全缓解率为55.7%(95%CI:0.415~0.696);排除因缓解后、严重并发症停药等患者,在10月用药时间内西罗莫司的有效率高达79.8%(95%CI:0.720~0.868),完全缓解率为60.2%(95%CI:0.490~0.709);西罗莫司治疗aPRCA不良反应发生率15.1%(95%CI:0.043~0.294),因不良反应危及生命及停药情况非常少见。结论西罗莫司对aPRCA的治疗具有良好的疗效和安全性。
文摘Al-month-old boy was transferred postpartum from an outside hospital. The boy weighing 3.2 kg andmeasuring 50 cm long was born after an uneventful, first pregnancy at term by caesarean section. The mother was given oral medication for a week to treat diarrhea in the fifth month of pregnancy. At birth he was found to have a huge scalp defect covered only with a transparent membrane that covered the underlying brain. The wound gradually desiccated and formed an eschar.
基金was supported by grants from the National Natural Science Foundation of China under grant numbers 81770119&81700120。
文摘Variants in the solute carrier family 40 member 1(SLC40A1)gene are the molecular basis of ferroportin disease,which is an autosomal dominant hereditary hemochromatosis.Here,we present a patient with pure red cell aplasia(PRCA)and large granular lymphocytic leukemia(LGLL)associated with an extremely high levels of serum ferritin and iron overload syndrome.Whole exon sequencing revealed a novel heterozygous variant in SLC40A1(p.T419I),which was found in his daughter as well.A series of functional studies in vitro of the T419I variant in ferroportin were conducted and the results revealed a reduced capacity of iron export from cells without changes in protein localization and its sensitivity to hepcidin.Intracellular iron storage in mutated cells was significantly higher than that of wild-type.These findings suggest that the novel variant p.T419I can cause the classical form of ferroportin disease and an elevated intracellular iron level indicates a potential novel pathogenic mechanism underlying PRCA and LGLL.
