Disease ID | Source | Name | Description |
144200 | OMIM | Keratoderma, palmoplantar, epidermolytic (EPPK) | A dermatological disorder characterized by diffuse thickening of the epidermis on the entire surface of palms and soles sharply bordered with erythematous margins. Some patients may present knuckle pads, thick pads of skin appearing over the proximal phalangeal joints. The disease is caused by variants affecting the gene represented in this entry. |