Rare variant of ankyloblepharon-ectodermal defect-cleft lip/cleft palate syndrome: Curly hair-ankyloblepharon-nail disease syndrome

Abstract

Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay–Wells syndrome. The characteristic feature of this syndrome is “ankyloblepharon filiforme adnatum”, which refers to the partial thickness fusion of the eyelid margins. The “curly hair-ankyloblepharon-nail disease (CHAND) syndrome” is a clinical variant of AEC syndrome. We report a rare case of a 7-year-old girl child who presented with history of abnormal dentition, 20 nail dystrophy, and light-colored, sparse curly hairs since birth. Parents gave history that at the time of birth, her both eyelids were fused partially, which was surgically corrected by an ophthalmologist at 1 month of age. There was no history of hypohidrosis or anhidrosis, heat intolerance, cleft lip or cleft palate. Microscopy of the hair shaft found “bubbly hair” morphology. This case is unique as it is a rare presentation, and awareness should be there for this constellation of findings so that the systemic associations can be investigated. “Bubble hair” morphology on microscopy is a unique feature in this rare autosomal recessive condition.