A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explo...

Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. On dermoscopy, they showed a reddish background, thin, lineal vessels and, ...

To cite: Pimenta J, Lapa P, Ramos L. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016218950 DESCRIPTION Amniotic band syndrome is an unusual clinical entity with a wide variety of presentations that include constriction rings, syndactyly and limb or digital amputations. 2 Aplasia cutis congenita is a rare congenital anomaly involving variant layers of the skin...

BACKGROUND Several reports have suggested that propylthiouracil (PTU) may be safer than methimazole (MMI) for treating thyrotoxicosis during pregnancy because congenital malformations have been associated with the use of MMI during pregnancy. OBJECTIVES We investigated whether in utero exposure to antithyroid drugs resulted in a higher rate of major malformations than among the infants born t...

one of the few conditions associated with skin ulceration in the neonatal period is aplasia cutis congenita (acc). acc or congenital absence of the skin is considered an uncommon anomaly. this malformation commonly appears on the scalp as a solitary lesion, though it can be seen in other surfaces of the body such as the trunk, limbs and face. acc can be associated with other physical anomalies ...

Aplasia cutis congenita (ACC) is usually located on the hairy scalp, on the vertex of the head, but can also occur in other locations, such as limbs, trunk. Congenital skin aplasia on the lower limb is very rare disorder. The exact etiopathogenesis is not known, but intrauterine conditions play a role in its development. ACC visually resembles an ulceration, with a smooth pink surface, which in...

Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.

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...