Palmoplantar Keratoderma and Woolly Hair

Clinical Characteristics
Ocular 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.


This 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.

Autosomal recessive
Treatment Options: 

No treatment is known.

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