We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome.
- Authors
Clementi, M.; De Stefani, E. Cardin; Dei Rossi, C.; Avventi, V.; Tenconi, R.
- Abstract
A family with three members in two generations affected by pachyonychia congenita, hyperkeratosis and hyperhidrosis of the palms and soles, follicular keratosis, neonatal teeth and epidermoid cysts (Jackson-Lawler syndrome) is described. The nosological autonomy of this condition is proposed and a further heterogeneity is suggested on the basis of histopathological changes in the subcutaneous cysts. Pachyonychia congenita is a genetically determined ectodermal dysplasia inherited as an autosomal dominant trait. On the basis of phenotype analyses, Gorlin et al. (1976) proposed that two distinct entities could be recognized: the more frequent Jadassohn-Lewandowsky syndrome characterized by pachyonychia congenita, hyperkeratosis and hyperhidrosis of the palms and soles, follicular keratosis and oral leukoplakia, and the less frequent Jackson-Lawler syndrome (Jackson & Lawler, 1951), characterized by neonatal teeth and epidermoid cysts in addition to the same nail and skin abnormalities, but no oral leukokeratosis; both forms have never been observed in the same family. We report a family in which three members in two generations were affected by the rarer form of pachyonychia congenita, and describe in detail the clinical picture of this rare malformation syndrome.
- Subjects
ECTODERMAL dysplasia; KERATOSIS; SKIN diseases; HUMAN abnormalities; CYSTS (Pathology); DERMATOLOGY; MEDICINE
- Publication
British Journal of Dermatology, 1986, Vol 114, Issue 3, p367
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/j.1365-2133.1986.tb02829.x