Diffuse palmoplantar keratoderma with painful fissures
General Information (adopted from Orphanet):
Synonyms, Signs: |
KERATODERMA, PALMOPLANTAR, STRIATE FORM I STRIATE PALMOPLANTAR KERATODERMA I KERATOSIS PALMOPLANTARIS STRIATA I SPPK1 PPKS1 KPPS1 |
Number of Symptoms | 24 |
OrphanetNr: | 369999 |
OMIM Id: |
148700
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ICD-10: |
Q82.8 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Autosomal dominant isolated diffuse palmoplantar keratoderma
-Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000975) | Hyperhidrosis | rare [HPO:skoehler] | 64 / 7739 | |||
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(HPO:0000956) | Acanthosis nigricans | 54 / 7739 | ||||
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(HPO:0007501) | Streaks of hyperkeratosis along each finger onto the palm | 1 / 7739 | ||||
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(HPO:0000982) | Palmoplantar keratoderma | 40 / 7739 | ||||
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(OMIM) | Onycholysis, mild (in some patients) | 2 / 7739 | ||||
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(OMIM) | Separation of keratinocytes in upper spinous and granular cell layers | 2 / 7739 | ||||
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(OMIM) | Yellowish discoloration (in some patients) | 2 / 7739 | ||||
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(OMIM) | Widening of intercellular spaces | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hyperkeratosis of pressure sites of palms and soles | 2 / 7739 | ||||
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(OMIM) | Focal hyperkeratosis (in some patients) | 2 / 7739 | ||||
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(OMIM) | Hyperkeratotic plaques on anterolateral ankle area (in some patients) | 2 / 7739 | ||||
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(OMIM) | Orthohyperkeratosis | 4 / 7739 | ||||
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(OMIM) | Whitish discoloration (in some patients) | 2 / 7739 | ||||
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(OMIM) | Separation of keratinocytes in spinous layer | 2 / 7739 | ||||
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(OMIM) | Normal keratin intermediate filaments | 2 / 7739 | ||||
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(OMIM) | Papillomatosis Hypergranulosis | 2 / 7739 | ||||
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(OMIM) | Hyperkeratotic plaques on anterior knee area (in some patients) | 2 / 7739 | ||||
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(OMIM) | Diffuse hyperkeratosis (in some patients) | 2 / 7739 | ||||
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(OMIM) | Longitudinal hyperkeratotic lesions along flexor surface of each finger, extending to palm | 2 / 7739 | ||||
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(OMIM) | Nail dystrophy, mild (in some patients) | 2 / 7739 | ||||
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(OMIM) | Ridging (in some patients) | 2 / 7739 | ||||
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(OMIM) | Hyperkeratosis, marked | 3 / 7739 | ||||
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(OMIM) | Hyperkeratosis at corners of mouth (in some patients) | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Striate palmoplantar keratoderma belongs to a group of skin diseases in which there is thickening of the skin on the palms and soles. The striate form is characterized by longitudinal hyperkeratotic lesions extending the length of each finger ... |
Diagnosis OMIM |
Bergman et al. (2010) analyzed biopsies from 4 patients with DSG1 mutations, including the patient with diffuse PPK originally reported by Keren et al. (2005) and the 3 patients with PPKS previously studied by Hershkovitz et al. (2008), ... |
Clinical Description OMIM |
The lesions of the hands consist of a streak of hyperkeratosis running the length of each finger and onto the palm. Bologna (1966) reported a 4-generation kindred in which involvement of males predominated in a striking manner. This ... |
Molecular genetics OMIM |
In a Dutch family with striate palmoplantar keratoderma, Rickman et al. (1999) identified a heterozygous splicing mutation in the gene encoding desmoglein (125670.0001). In 5 unrelated patients with PPKS, including an affected member of the German ... |