Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques (OLMS)

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OMIM 56 614594 MeSH 43 D007645 ICD10 via Orphanet 33 Q82.8 UMLS via Orphanet 72 C2609071

Orphanet 58 ORPHA659 MedGen 41 C2609071 SNOMED-CT via HPO 68 10165000 126488004 126713003 128613002 14662005 161857006 200766001 20255002 203522001 203598005 2092003 238810007 246545002 246957002 247441003 263681008 271811009 278040002 279333002 30425001 312230002 313307000 364538006 372130007 372244006 385522000 39659002 403375001 415690000 415691001 418290006 418363000 424492005 444827008 46742003 52613005 53602002 55033002 56317004 56558005 57048009 60700002 64969001 65068000 706885006 70819003 7890003 80967001 84757009 86166000 86735004 87065009 88565003 91175000 more UMLS 71 C2609071

NIH Rare Diseases : ⁵² Olmsted syndrome is a very rare congenital (present from birth) disorder causing abnormal growth and thickening of skin. The most common affected areas are the palms of the hand, the soles of the feet, and the area around the eyes and mouth. Other symptoms include sparse hair and abnormal nails, joint abnormalities, pain, and itching. The abnormal skin thickening in Olmsted syndrome tends to get worse over time. People with this condition are at increased risk for infections and for skin cancer . Olmsted syndrome is caused by genetic changes (DNA variants ) in the TRPV3 and the MBTPS2 gene . Many different forms of inheritance have been reported, although many cases of Olmsted syndrome are sporadic (a new case in a family). Diagnosis is based on the symptoms, and genetic testing can be helpful. Treatment includes oral and topical retinoids and steroids. Newer medications used to treat cancer are under investigation.

MalaCards based summary : Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, also known as olmsted syndrome, is related to palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked and toxocariasis. An important gene associated with Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include skin, eye and testes, and related phenotypes are erythema and palmoplantar keratoderma

OMIM : ⁵⁶ Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). (614594)

UniProtKB/Swiss-Prot : ⁷³ Olmsted syndrome: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.

Wikipedia : ⁷⁴ Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Clinical features from OMIM:

614594

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques

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