| Disease ID | Source | Name | Description |
| 148600 | OMIM | Keratoderma, palmoplantar, punctate 1A (PPKP1A) | An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. The disease is caused by variants affecting the gene represented in this entry. |