Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

The document discusses two case studies of women with classical-like Ehlers-Danlos syndrome (clEDS) type 2, a rare genetic disorder caused by variants in the AEBP1 gene. Both patients exhibited symptoms like joint hypermobility, easy bruising, and hair loss. The study found that 6 out of 11 total reported cases of clEDS type 2 experienced hair loss resembling androgenetic alopecia, a type of hair loss not reported in other EDS types. The study suggests that WNT signalling, which maintains the hair follicle, could be disrupted in individuals with pathogenic AEBP1 variants, leading to this specific phenotype. However, there is currently no published data to support this theory. The study also recommends cardiovascular investigation and ongoing surveillance for individuals with clEDS type 2 due to the risk of cardiovascular events.