Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?

The document described a case of a 9-year-old boy with severe monilethrix, a rare hair shaft defect, characterized by universal dystrophic alopecia, intractable scalp pruritus, diffuse keratosis pilaris, and bilateral posterior subcapsular cataracts. The boy, born to consanguineous parents, also exhibited physical underdevelopment and distinct facial features such as hypertelorism, a wide-based nose, long philtrum, large mouth with a thick lower lip, enlarged forehead, small receding chin, short neck, and a rounded skull. The findings suggested that "monilethrix syndrome" could be used to describe cases of monilethrix with additional abnormalities, and the patient might represent a new, severe, autosomal recessive variant of the syndrome.