The authors describe a case of aplasia cutis congenita associated with limb abnormalities. In addition to a vast cicatricial area present in the median area of the scalp, a one-year-old boy presented hands with short fingers and hypoplasia of the distal phalanges; the feet, shaped like golf clubs, also had short, 'sausage-like' toes. No other abnormalities or chromosome defects were observed. Similar alterations were present in the father and paternal grandfather, although the latter presented a very restricted alopecic patch. This clinical syndrome can be classified as group II of Friden's classification. The authors underline that the variable expression and penetration of this form requires an in-depth examination of relatives in order to formulate an accurate genetic judgement.

Aplasia cutis congenita and limb abnormalities: A familial case / S. Menni, D. Imondi, G. Galbiati. - In: GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA. - ISSN 0392-0488. - 130:3(1995), pp. 201-203.

Aplasia cutis congenita and limb abnormalities: A familial case

S. Menni
Primo
;
1995

Abstract

The authors describe a case of aplasia cutis congenita associated with limb abnormalities. In addition to a vast cicatricial area present in the median area of the scalp, a one-year-old boy presented hands with short fingers and hypoplasia of the distal phalanges; the feet, shaped like golf clubs, also had short, 'sausage-like' toes. No other abnormalities or chromosome defects were observed. Similar alterations were present in the father and paternal grandfather, although the latter presented a very restricted alopecic patch. This clinical syndrome can be classified as group II of Friden's classification. The authors underline that the variable expression and penetration of this form requires an in-depth examination of relatives in order to formulate an accurate genetic judgement.
abnormalities; aplasia cutis congenita; extremities
Settore MED/35 - Malattie Cutanee e Veneree
1995
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/194752
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