| Symbol
| EPPK
|
| Location
| 17q21.1-q21.2
|
| Name
|
palmoplantar keratoderma, epidermolytic |
| Other name(s)
|
hyperkeratosis, localized epidermolytic
palmoplantar keratoderma, Vörner type
keratosis of Greither |
| Corresponding gene
|
KRT9
|
| Main clinical features
|
characterized by diffuse yellow thickening of the skin of the palms and soles, sharply bordered with erythematous margins, histologically and ultrastructurally, presents cytolysis of keratinocytes and abnormal aggregation of tonofilaments in the suprabasal layers of the epidermis
late-onset form in which focal hyperkeratotic lesions develop in response to mechanical trauma; an important distinguishing feature is the presence of lesions at other body sites, e.g., oral and follicular hyperkeratosis |
| Genetic determination
| autosomal dominant |
| Related entries
| some non epidermolytic focal forms and form with knuckle pads only and unilateral palmoplantar verrucous nevus
|
| Function/system disorder
| dermatology |
| Type
| disease
|