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PubMed · 447529

[Studies on monilethrix].

Abstract

Monilethrix is a disorder of the hair manifested by fragile, beaded hair and baldness. The four children described below showed no regulary rhythm of node and internode formation. Light microscopy supported the hypothesis that periodic inhibition of keratin synthesis explains the production of the constriction. Scanning electron microscopy shows longitudinal ridging of the internodes in monilethrix and distinctive surface irregularity. Chromatography of urine for argininosuccinic acid do not support the theory that this hair abnormality is a metabolic defect.

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BibTeXRIS

D Lubach, N Triantos. 1979. [Studies on monilethrix].. https://pubmed.ncbi.nlm.nih.gov/447529/

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Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.

Argininosuccinic Acid