Abstract

Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.

Links

Publisher Full Text

Authors

Castori M, Valiante M, Ritelli M, Preziosi N, Colombi M, Paradisi M, Grammatico P

Institution

Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it

Source

American journal of medical genetics. Part A 152A:8 2010 Aug pg 2043-7

MeSH

Ainhum
Alopecia
Female
Humans
Infant, Newborn
Keratoderma, Palmoplantar
Male
Middle Aged
Syndrome

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

20635335