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

April 2023 in “ Frontiers in Genetics ”

Chloe Angwin, Neeti Ghali, Fleur S van Dijk

AEBP1 classical-like Ehlers-Danlos syndrome clEDS type 2 joint hypermobility easy bruising hair loss androgenetic alopecia WNT signalling hair follicle pathogenic AEBP1 variants clEDS androgenic alopecia

Studysummary This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

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.

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