Expanding the Spectrum of Hay–wells Syndrome: A Trichoscopic Perspective

Abstract

Aims: Hay–Wells syndrome (ankyloblepharon–ectodermal dysplasia–clefting or AEC syndrome) is a rare autosomal dominant disorder caused by TP63 mutations, classically associated with skin, hair, nail, and craniofacial anomalies. Although hair abnormalities are commonly reported, their trichoscopic features remain largely undocumented. We aim to describe, for the first time, the detailed trichoscopic findings observed in a genetically confirmed case of AEC syndrome and to discuss their diagnostic relevance in differentiating this condition from other genodermatoses with overlapping phenotypes. Presentation of Case:  We report the case of a 13-year-old girl with genetically confirmed AEC syndrome who presented with progressive hair thinning and breakage. Clinical examination revealed sparse, coarse hair, partial eyebrow and eyelash loss, and nail abnormalities. Trichoscopic evaluation revealed multiple hair shaft anomalies—including pili torti, pili annulati, pseudo-monilethrix, and trichorrhexis nodosa—as well as scalp changes such as peripilar hyperkeratosis and honeycomb-like pigmentation. While these features are not exclusive to AEC syndrome, their recognition in a suggestive clinical context may support early suspicion and guide further evaluation. Discussion: This is, to our knowledge, the first reported case of AEC syndrome with such a broad trichoscopic characterization. The diversity of findings supports the presence of intrinsic structural hair shaft defects in TP63-related ectodermal dysplasias. Moreover, certain features—such as pili annulati and peripilar hyperkeratosis—not previously described in this context, may offer additional diagnostic value. Conclusion: This case expands the trichoscopic profile of AEC syndrome, supporting the hypothesis of intrinsic follicular structural defects. Trichoscopy may serve as a valuable diagnostic tool in differentiating AEC from other ectodermal dysplasias and in guiding genetic evaluation.