Adrenoleukodystrophy: short hair with trichoschisis, hypotrichosis of the eyebrows, and onychodystrophy.

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to impaired β-oxidation of very-long-chain fatty acids (VLCFAs) and progressive demyelination. Trichothiodystrophy type 8 (TTD8), caused by biallelic variants in the AARS1 gene, is an autosomal recessive disorder characterized by brittle hair, developmental delay, and multisystem involvement, including neurological impairment. We report a rare case of a female patient with severe early-onset leukodystrophy associated with a homozygous variant of the ABCD1 gene and a concomitant variant of the AARS1 gene, presenting with both neurological and ectodermal abnormalities.