has material basis in germline mutation in KRT1 autosomal dominant disease diffuse nonepidermolytic palmoplantar keratoderma https://github.com/monarch-initiative/mondo/issues/4095 https://github.com/monarch-initiative/mondo/issues/6749 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/krt1_related_nonepidermolytic_palmoplantar_keratoderma https://www.malacards.org/card/palmoplantar_keratoderma_nonepidermolytic Thost-Unna syndrome UMLS:C1833030 diffuse NEPPK Orphanet:496 DOID:0050428 non-epidermolytic palmoplantar keratoderma diffuse nonepidermolytic palmoplantar keratoderma SCTID:716105001 palmoplantar keratoderma, nonepidermolytic PPK diffusa circumscripta GARD:0005186 Unna-Thost syndrome KRT1-related diffuse nonepidermolytic keratoderma A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. NEPPK Thost-Unna disease Unna-Thost palmoplantar keratoderma autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type Thost-Unna palmoplantar keratoderma MEDGEN:371463 nonepidermolytic palmoplantar keratoderma DOID:0070550 PPKNE OMIM:600962 MONDO:0010962 Orphanet:530838 diffuse palmoplantar keratoderma, Bothnian type diffuse palmoplantar keratoderma