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Title: The prevalence, clinical features and genetics of epidermolysis bullosa in Scotland
Author: Horn, Helen M.
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2003
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Between May 1992 and June 2001, 309 epidermolysis bullosa (EB) sufferers were identified in Scotland (EB simplex [EBS] 175, dystrophic EB [DEB] 130, junctional EB [JEB] 4). The point prevalences of EB per million in June 2001 were: EBS (all variants) 33.2, the Dowling-Meara subtype of EBS (EBS-DM) 1.2, JEB 0.3, DEB (all subtypes) 24.6, dominant DEB ( DDEB) 17.4, DEB of uncertain inheritance (DEB-unc) 4.6, the Hallopeau-Siemens subtype of recessively inherited DEB (RDEB-HS) 1,4, localised RDEB (RDEB-loc) 1.0, and the inverse pattern of RDEB (RDEB-inv) 0.2. Incidences per million live births were EBS (all subtypes) 34.4, JEB 3.2, and DEB (all subtypes) 26.4. Although the prevalence figures for EBS and DEB are the highest of any yet reported, extrapolation of accurate data for the Lothians suggests that the prevalences of EBS and DEB in Scotland are underestimates. Detailed clinical information on 130 EBS patients revealed considerable overlap between EBS-WC and EBS-Kb. As both phenotypes were frequently seen within the same pedigree and in patients bearing identical mutations, EBS-WC is best regarded as a mild variant of EBS-Kb rather than as a separate disorder. Improvement with age was common in EBS but not invariable. Nail involvement and aplasia cutis congentia were seen in all subtypes of EBS. Seasonal variation was confirmed as being common in EBS-Kb/EBS-WC and absent in EBS-DM. In contrast to previously held views, substantial minorities of those with EBS-Kb/EBS-WC experienced oral blisters (17%) and blisters at sites in addition to the palms and soles (43%). Oral blisters were previously thought to occur only in EBS-DM. Laryngeal involvement, usually associated with JEB, also occurred in EBS-DM.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available