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
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
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
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
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
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
The bone defects of the cranial vault encompassed rare malformations including acalvaria, hypocalvaria, acrania, hypocrania, anencephaly and exencephaly. They are also described in some pathological entities such as a...The bone defects of the cranial vault encompassed rare malformations including acalvaria, hypocalvaria, acrania, hypocrania, anencephaly and exencephaly. They are also described in some pathological entities such as aplasia cutis congenita of the scalp. We report an unusual case of cephalic malformation which combine defects of the skin, the dura mater, and the bones of the vault, with a malformation of the central nervous system. This unique case emphasizes a problem of nosological definition between the terms mentioned above. acalvaria, the acrania, the hypocalvaria and the aplasia cutis congenita. Thus, herein, we proceed to a literature review of bone defects of the skull and their differential diagnosis.展开更多
Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including devel...Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.展开更多
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.
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.
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.
文摘The bone defects of the cranial vault encompassed rare malformations including acalvaria, hypocalvaria, acrania, hypocrania, anencephaly and exencephaly. They are also described in some pathological entities such as aplasia cutis congenita of the scalp. We report an unusual case of cephalic malformation which combine defects of the skin, the dura mater, and the bones of the vault, with a malformation of the central nervous system. This unique case emphasizes a problem of nosological definition between the terms mentioned above. acalvaria, the acrania, the hypocalvaria and the aplasia cutis congenita. Thus, herein, we proceed to a literature review of bone defects of the skull and their differential diagnosis.
文摘Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.
