Pretibial dystrophic epidermolysis bullosa
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DEB, PRETIBIAL EPIDERMOLYSIS BULLOSA, PRETIBIAL DYSTROPHIC EPIDERMOLYSIS BULLOSA, PRETIBIAL Pretibial DEB DEB-Pt |
| Number of Symptoms | 10 |
| OrphanetNr: | 79410 |
| OMIM Id: |
131850
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| ICD-10: |
Q81.2 |
| 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 Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dystrophic epidermolysis bullosa
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000987) | Atypical scarring of skin | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0008388) | Abnormality of the toenails | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000989) | Pruritus | Frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0100725) | Lichenification | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0001231) | Abnormality of the fingernails | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0012221) | Pretibial blistering | 2 / 7739 | ||||
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(HPO:0000962) | Hyperkeratosis | Occasional [Orphanet] | 216 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0030350) | Erythematous papule | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Pretibial EB is characterized by recurrent blistering and scarring, mainly in the pretibial area. The lesions often show lichenoid features (Naeyaert et al., 1995). Portugal and Jacintho (1956) observed pretibial dystrophic epidermolysis bullosa in father and ... |
| Molecular genetics OMIM |
In a family of Taiwanese descent in which 12 living individuals in 3 generations had pretibial DEB (Lee et al., 1993), Christiano et al. (1995) identified a heterozygous mutation in the COL7A1 gene (G2623C; 120120.0007). Betts ... |