| acrale epidermolysis bullosa dystrophica (aandoening) | | acrale epidermolysis bullosa dystrophica | | acrale dystrofische epidermolysis bullosa
| | Acral dystrophic epidermolysis bullosa | | Acral DEB (dystrophic epidermolysis bullosa)
| | A very rare subtype of dystrophic epidermolysis bullosa with characteristics of blistering confined primarily to the hands and feet. The disease usually manifests during infancy with trauma-induced blisters limited to extremities. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. Caused by mutations within the type VII collagen gene (COL7A1). Mutations in this gene lead to an alteration in function of collagen VII. This impairs its assembly into anchoring fibrils that anchor the basement membrane to the underlying dermis. Transmission is autosomal dominant (acral dominant dystrophic epidermolysis bullosa) or autosomal recessive (acral recessive dystrophic epidermolysis bullosa). |
| | Id | 733638006 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 158673 |
| SNOMED CT to ICD-10 extended map | | Target | Q81.2 | | Rule | TRUE | | Advice | ALWAYS Q81.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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