Disease ID | Source | Name | Description |
604117 | OMIM | Vohwinkel syndrome with ichthyosis (VSI) | A variant form of Vohwinkel syndrome without hearing loss and associated with ichthyosiform dermatosis. Clinical features include palmoplantar keratoderma, pseudoainhum and ichthyosis. Compact hyperkeratosis with round retained nuclei and hypergranulosis is observed on skin biopsies. The disease is caused by variants affecting the gene represented in this entry. |