| Symbol
| KHM1
|
| Location
| 1q21.3
|
| Name
|
keratoderma (hyperkeratosis), palmoplantar, mutilans,1 |
| Other name(s)
|
Vohwinkel syndrome variant form
mutilating keratoderma with ichthyosis |
| Corresponding gene
|
LOR
|
| Main clinical features
|
ectodermal dysplasia, deafness with palmoplantar keratoderma, constricting bands on the fifth digits of hands and feet (pseudoainhum)
may present as congenital ichthyosiform erythroderma, and should be included in the differential diagnosis of collodion baby (Matsumoto 2001) |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| dermatology |
| Type
| disease
|