OLMS
MCID: PLM100
MIFTS: 43
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Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques (OLMS)
Categories:
Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:
Characteristics:Orphanet epidemiological data:58
mutilating palmoplantar keratoderma with periorificial keratotic plaques
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures) HPO:31
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques:
Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Skin diseases
ICD10:
33
Orphanet: 58
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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... |
Human phenotypes related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:58 31 (show all 35)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614594 |
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MalaCards organs/tissues related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:40
Skin,
Eye,
Testes,
Tongue,
Lung
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Articles related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:(show top 50) (show all 85)
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ClinVar genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:6 (show all 23)
UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:73
Cosmic variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques:9 (show top 50) (show all 663)
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GEO
for disease gene expression data for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques.
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