title: Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.
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.
authors.affiliation: Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Michele
authors.initials: M
authors.lastname: Valiante
authors.forename: Marco
authors.initials: M
authors.lastname: Ritelli
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Preziosi
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000387:Ainhum / Q000235:genetics* / Q000473:pathology; D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D000072259:Connexin 26; D017630:Connexins; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26