A case of monilethrix with trichoscopic changes- Case report
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A 32-year-old male, presented with a chief complaint of scanty hair since birth. The patient gave a history that his hairs did not grow up to the length which required haircut. There was no history of any seasonal variation and trauma to hair. No history of topical application, food/drug allergy, fever, retarded growth, juvenile cataract, chest pain, abdominal pain, or vomiting was present. He was a known case of chronic pancreatitis and diabetes mellitus on medication. History of multiple stones in gallbladder 2 years back was present, for which gallbladder was removed. Positive family history of diabetes mellitus and sparse hair in father , sister, and grandmother was present.

Cutaneous examination showed diffuse light brown to black, sparse hair with pustules and keratotic papules over the scalp . Hair over eyebrows and eyelashes and axillary, pubic, or body hair were normal. Nail and teeth were normal. Trichoscopy done with Illuco dermoscope, model-1100, ×10 magnification in cross-polarized light illumination, showed hair shaft with uniform elliptical nodes, intermitted constrictions, broken hair, and perifollicular scaling. The history, cutaneous examination, and trichoscopy suggest the diagnosis of monilethrix.

Monilethrix is a rare hereditary hair shaft defect with variable expressivity characterized by the presence of beaded or spindle-shaped shafts of the scalp hair and manifest as congenital hypotrichosis.

Monilethrix is predominantly an autosomal dominant disease with regular thinning of hair shaft at constricted points. Genetic studies have suggested that the gene responsible for this disorder has been mapped to chromosome 12p13 and involves type II cortex keratin genes hHb6 and hHb1. Autosomal dominant monilethrix is caused by mutations in hair keratin genes KRT81, KRT83, or KRT86, whereas in autosomal recessive form, mutations in the desmoglein-4 gene have been reported

Source: https://www.ijtrichology.com/article.asp?issn=0974-7753;year=2020;volume=12;issue=5;spage=238;epage=240;aulast=Patel
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