Localized dystrophic epidermolysis bullosa, nails only

Localized dystrophic epidermolysis bullosa, nails only (also known as dystrophic epidermolysis bullosa pruriginosa, nail-only type, or EB dystrophica, nails only) is an extremely rare and mild subtype of dystrophic epidermolysis bullosa (DEB). It is classified under the broader category of dystrophic epidermolysis bullosa, which is caused by pathogenic variants in the COL7A1 gene encoding type VII collagen, a critical structural protein that forms anchoring fibrils at the dermal-epidermal junction. In this particular subtype, the clinical manifestations are confined exclusively to the nails, without the widespread skin blistering and scarring typically seen in other forms of dystrophic EB. Affected individuals present with nail dystrophy, which may include thickened, ridged, misshapen, or absent nails on the fingers and/or toes. The nails may be fragile and prone to splitting or shedding. Importantly, the skin and mucous membranes are generally spared, distinguishing this subtype from more severe forms of dystrophic EB. Because the disease is limited to the nails, systemic complications such as esophageal strictures, nutritional deficiencies, or increased cancer risk — which are associated with more generalized forms of DEB — are not expected. There is no cure for this condition. Management is primarily supportive and focuses on nail care, including keeping nails trimmed and protecting them from trauma. Genetic counseling is recommended for affected individuals and their families. The condition can be inherited in either an autosomal dominant or autosomal recessive pattern depending on the specific COL7A1 variant involved, though dominant inheritance appears to be more commonly reported in milder localized forms of dystrophic EB.

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