epidermolysis bullosa dystrophica Hallopeau-Siemens type
Jump to navigation
Jump to search
Pathology
- increased collagenase immunoreactivity in skin
- anchoring fibrils in the cutaneous basement membrane zone are few & poorly developed
Genetics
- associated with defects in COL7A1
Clinical manifestations
- blistering disease of skin
- extensive mutilating scarring, blistering, & erosions of the skin & mucous membranes
- affects hands, feet, elbows, knees, mucosa, conjunctiva & cornea
- joint contractures
- corneal erosions
- esophageal strictures
Complications
- propensity for cutaneous squamous cell carcinoma
- death
Management
- no specific therapy available[1]
- cell therapy with allogeneic cultured fibroblasts holds promise[1]
More general terms
References
- ↑ 1.0 1.1 1.2 Wong T et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2008 Sep; 128:2179. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18385758
Uitto J. Epidermolysis bullosa: Prospects for cell-based therapies. J Invest Dermatol 2008 Sep; 128:2140. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18695685