keratoderma hereditarium mutilans
A rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
MONDO:0002051
integumentary system disorder
is_a
MONDO:1060236
GJB2-related disorder
is_a
KHM
exact
PPK mutilans and deafness
exact
VOWNKL
exact
Vohwinkel syndrome
exact
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
narrow
keratoderma hereditarium mutilans
exact
mutilating keratoderma
exact
mutilating keratoderma of Vohwinkel
exact
mutilating keratoderma plus deafness
exact