Case Report: 7 Year-Old Saudi Female with Monilethrix

young girl with easy brittle and sparse hair

Abstract

Monilethrix is a rare genetic hair disorder known as beaded or nodose hair disease as described by Walter Smith in 1897. It is characterised by hypotrichoses of the scalp of all races and both sexes. It is inherited as autosomal dominant even though many sporadic cases and autosomal recessive inheritances have been reported. Affected individuals usually have keratosis pilaris (KP) and koilonychia. Juvenile cataracts, mental and physical retardation, epilepsy, syndactyly, and tooth and nail abnormalities rarely reported. This case reports a 7-year-old female, who manifested the symptoms of monilethrix –Syndrome. The patient has a brittle and sparse and did not grow to extended length. Combing was abandoned as many hairs were broken easily. On examination, most of the hairs were broken and had a striated appearance, bilateral superciliary madarosis. Her nails and teeth were normal and no ophthalmological abnormality. The occipital scalp and nape of neck showed asymptomatic keratotic papules, suggestive of keratosis pilaris. Microscopic examination revealed the characteristic uniform beading of the hair nodes at the distance of 0.5mm, thus confirming the diagnosis of monilethrix. This case is reported for its rarity and occurrence in the Middle Eastern population.   Keywords: Monilethrix, Trichorrhexis nodosa, Sabouraudi syndrome