Extensive form of aplasia cutis congenita: a new syndrome?

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Extensive form of aplasia cutis congenita: a new syndrome?

Aplasia cutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of the body and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our...

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Aplasia cutis congenita

The patient was a female neonate bornprematurely at 36 weeks of gestation by a Cesareansection. During pregnancy, the mother had nohistory of fever, drug use, or X-ray exposure.The mother was gravida 2 and had no history ofabortion. Her first child was healthy. There wasno record of birth trauma. The perinatal historywas negative for intrauterine trauma, the use ofantithyroid medication, or mis...

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Aplasia cutis congenita: a case report

Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...

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Aplasia cutis congenita: a rare extensive bilateral case of extremities

Aplasia cutis congenital is a rare congenital absence of skin, exceptionally involves extremities. Most cases are sporadic but familial autosomal dominant pattern can be found. The etiology remains unclear, both genetic and environmental causes have been implicated. This lesion has primarily a clinical diagnosis. Imaging studies may be used to evaluate underlying tissues and investigate other c...

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Type VI Aplasia Cutis Congenita: Bart's Syndrome

Bart's syndrome is characterized by aplasia cutis congenita and epidermolysis bullosa. We present the case of a newborn male who developed blisters on the mucous membranes and the skin following congenital localized absence of skin. Bart's syndrome (BS) is diagnosed clinically based on the disorder's unique signs and symptoms but histologic evaluation of the skin can help to confirm the final d...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1998

ISSN: 1468-6244

DOI: 10.1136/jmg.35.7.609