diffuse nonepidermolytic palmoplantar keratoderma
Go to external page http://purl.obolibrary.org/obo/MONDO_0010962
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. [ Orphanet:530838 ]
Synonyms: diffuse palmoplantar keratoderma, Bothnian type KRT1-related diffuse nonepidermolytic keratoderma palmoplantar keratoderma, nonepidermolytic non-epidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar keratoderma NEPPK diffuse nonepidermolytic palmoplantar keratoderma
Term information
- MEDGEN:371463 (MONDO:equivalentTo)
- SCTID:716105001 (MONDO:equivalentTo)
- DOID:0050428 (MONDO:equivalentTo)
- GARD:5186 (MONDO:GARD)
- Orphanet:530838 (MONDO:equivalentTo)
- Orphanet:496 (OMIM:600962)
- OMIM:600962 (Orphanet:530838)
- UMLS:C1833030 (MONDO:equivalentTo)
gard_rare, ordo_disorder, ordo_inheritance_inconsistent, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6749
https://github.com/monarch-initiative/mondo/issues/4095
https://github.com/monarch-initiative/mondo/issues/6877
http://purl.obolibrary.org/obo/DOID_0050428
http://identifiers.org/medgen/371463
https://omim.org/entry/600962
http://linkedlifedata.com/resource/umls/id/C1833030
http://identifiers.org/snomedct/716105001
http://www.orpha.net/ORDO/Orphanet_530838
Thost-Unna syndrome
diffuse NEPPK
Thost-Unna disease
Unna-Thost syndrome
tylosis
Unna-Thost palmoplantar keratoderma
Thost-Unna palmoplantar keratoderma
PPKNE
keratoderma, nonepidermolytic palmoplantar
PPK diffusa circumscripta