Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
AG Barber, M Wajid, M Columbo, J Lubetkin… - Journal of …, 2007 - Elsevier
BACKGROUND: Striate keratodermas (PPKS) are a group of rare autosomal dominant
palmoplantar keratodermas, characterized by a thickening of the skin on the palms and
soles. PPKS is characterized by hyperkeratosis extending along the length of each finger
and on the palm of the hand, as well as by patches of hyperkeratosis on the soles.
OBJECTIVE: We report a four-generation Pakistani kindred in which 11 members were
affected with PPKS. METHODS: Based on previous reports of DSG1 mutations in PPKS, we …
palmoplantar keratodermas, characterized by a thickening of the skin on the palms and
soles. PPKS is characterized by hyperkeratosis extending along the length of each finger
and on the palm of the hand, as well as by patches of hyperkeratosis on the soles.
OBJECTIVE: We report a four-generation Pakistani kindred in which 11 members were
affected with PPKS. METHODS: Based on previous reports of DSG1 mutations in PPKS, we …