Palmoplantar Keratoderma and Woolly Hair Clinical CharacteristicsOcular Features: Eyebrows and eyelashes are sparse. Systemic Features: Striate palmoplantar keratoderma, more pronounced in the soles, with leukonychia are present. Scalp and body hair are sparse. Woolly hair is present in some patients. The toes may be somewhat rotated with a bulbous appearance distally. Older individuals have more marked skin changes suggesting some progression. GeneticsThis autosomal recessive condition is the result of homozygous missense mutations in the KANK2 gene (19p13.2). Eight patients in two families of Arab descent have been reported. Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment is known. ReferencesArticle Title: Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014 Jun;51(6):388-94. PubMed ID: 24671081 Read more about Palmoplantar Keratoderma and Woolly Hair
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S, Zlotogorski A. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014 Jun;51(6):388-94. PubMed ID: 24671081
