Fibrous Hands Deformities in Children with Dystrophic Epidermolysis Bullosa (According to the National Register Data).

Background. Dystrophic epidermolysis bullosa (DEB) is one of the most common and severe forms of epidermolysis bullosa (EB). Progressive fibrous tissue remodeling in DEB is characterized by development of limbs contractions and pseudosyndactylies. Complications of DEB have significant negative impact on patients development, adulting, and quality of life. DEB prevalence, its severity, and its correlation with limb deformities has not been examined in Russian studies. Objective. The aim of the study is to examine fibrous hands deformities prevalence and structure in children with DEB in Russian Federation. Methods. The study included data from children with genetically verified DEB (pathogenic variant in the COL7A1 gene) under the age of 18 years with Russian citizenship. Data source is the «Register of genetic and other rare diseases» of Charitable foundation “BELA. Butterfly Children”. Data was collected during the period from September 2014 to June 2025. Fibrous hands deformities were diagnosed in patients with hand pseudosyndactylies and contractions. The severity of single-hand deformities was determined via J. Glicenstein et al. scale (Grade 1–4). Results. Hands deformities of various severity were revealed in 39 (14.9%) out of 261 patients with DEB; 19 (49%) of them were female. The mean age of patients with hands deformities was 12.2 ± 3.6 years (range from 6 to 18 years). Grade 1 deformity (initial deformities) was revealed in 6 (15%) patients, Grade 2 (moderate deformities) — in 23 (59%) patients, Grade 3a (progressive form) — in 9 (23%) patients, Grade 4b (significant changes) — in 1 (3%) patient. The mean age of fibrous hands deformities onset was 4.1 ± 2.9 years. Moreover, its onset occured on average 1.5–2 years earlier in patients with more severe forms (Grade 3a, 4b) than in patients with Grade 1–2. Conclusion. Moderate fibrous limbs deformities (hands) are the most common in the structure of DEB cases. Deformities severity is directly determined by the age of fibrous changes onset.

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