Details of Disease

General Information of Disease (ID: DISKLJS3)

Disease Name Diffuse nonepidermolytic palmoplantar keratoderma
Synonyms
Thost-Unna disease; Unna-Thost syndrome; PPK diffusa circumscripta; PPKNE; Unna-Thost palmoplantar keratoderma; Thost-Unna syndrome; keratoderma, nonepidermolytic palmoplantar; diffuse NEPPK; Thost-Unna palmoplantar keratoderma; tylosis; autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type; diffuse palmoplantar keratoderma, Bothnian type; diffuse nonepidermolytic palmoplantar keratoderma; KRT1-related diffuse nonepidermolytic keratoderma; non-epidermolytic palmoplantar keratoderma; NEPPK; nonepidermolytic palmoplantar keratoderma; palmoplantar keratoderma, nonepidermolytic
Definition
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.
Disease Hierarchy
DIS6O9JS: Diffuse palmoplantar keratoderma
DIS3HIWD: Autosomal dominant disease
DISKLJS3: Diffuse nonepidermolytic palmoplantar keratoderma
Disease Identifiers
MONDO ID
MONDO_0010962
MESH ID
C563422
UMLS CUI
C1833030
OMIM ID
600962
MedGen ID
371463
HPO ID
HP:0007404

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AQP5 OT77GBY8 Strong GermlineCausalMutation [1]
KRT1 OTIOJWA4 Strong Autosomal dominant [2]
KRT16 OTGA0EQN Strong Genetic Variation [3]
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References

1 Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8;93(2):330-5. doi: 10.1016/j.ajhg.2013.06.008. Epub 2013 Jul 3.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3 Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.Nat Commun. 2017 Jan 27;8:14174. doi: 10.1038/ncomms14174.