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

July 2004 in “ Pediatric dermatology ”

Zülal Erbağcı, İbrahim Erbağcı, Hülya Erbağcı, Suna Erkılıç, A. Almila Tuncel

monilethrix dystrophic alopecia scalp pruritus keratosis pilaris posterior subcapsular cataracts hypertelorism autosomal recessive hair shaft defect hair loss itchy scalp skin bumps cataracts wide-set eyes genetic inheritance

Studysummary This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

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research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”

research Monilethrix Treated with Oral Retinoids

26 citations , May 1991 in “Clinical and experimental dermatology”

In this study, oral etretinate resulted in increased hair length and loss of beading in a childhood monilethrix case, while the scalp's keratosis pilaris persisted.

research Topical Minoxidil in Monilethrix

13 citations , January 1991 in “Dermatology”

Minoxidil helps hair growth in people with monilethrix without side effects.

research Monilethrix: An Ultrastructural Study

34 citations , December 1984 in “Journal of Cutaneous Pathology”

This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.