Case Report: 7 Year-Old Saudi Female with Monilethrix
young girl with easy brittle and sparse hair
DOI:
https://doi.org/10.66344/jpad.v32i3.1933Abstract
Monilethrix is a rare genetic hair disorder known as beaded or nodal hair disease as described by Walter Smith in 1897. It is characterized 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.
References
1. Smith, W. G. A rare nodose condition of the hair. BMJ. 1879;11:291-6.
2. Croaker, H. R. Diseases of the skin: Their description, Pathology, Diagnosis and Treatment. First Edition, 1888, Publisher H.K. Lewis.
3. Sabouroud, R. Sur Les Cheveux moniliformis (Trichorrhexies et monilethrix). Annals de Dermatol et de Venereol.1893;3:781-93.
4. Korge, B. P., Hamm, H., Jury, C. S. et al. Identification of novel mutations in the basic hair keratin hHb1 and hHb6 in monilethrix: Implication for protein structure and clinical phenotype. J Invest Dermatol. 1999; 133:607-12.
5. De Barker, D. A. R., Dawber, R. P. Variations in the beading configurations in monilethrix. Pediatr Dermatol. 1992;9:19-21.
6. Ito, M., Hashimoto, K., Katsuumi, K. Pathogenesis of Monilethrix: Computer stereography and electron microscopy. J Invest Dermatol. 1990;95:186-94.
7. Rarediseases.info.nih.gov/GARD/condition/93/GnA/21427/monilethrix.aspx
8. Solomon, I. L., Green, D. C. Monilethrix. N Eng J Med.1963;269:1279-85.
9. Erbaqzi, Z.,Erbaqzi, I., Erbaqzi, H. Severe monilethrix associated with intractable Scalp pruritus, subcapsular cataract Brachiocephaly and distinct facial features: a new variant of monilethrix syndrome. Pediat Dermatol. 2004;21:486-90.
10. Rakowska, A., Slowinska, M., Czuwara, J. Dermascopy as a tool for rapid diagnosis of monilethrix. J Drugs Dermatol. 2007; 6:222-4.
11. Bentley, P. B., Bayles, M. A. A previously undescribed heriditary hair anamoly (pseudomonilethrix) Br J Dermatol. 1973; 89:159-67.
12. Rossi, A., Lorio, A., Scali, E. Monilethrix treated with minoxidil. Int J Immunopathol Pharmacol. 2011;24:239-42.
13. Karingauglu, Y., Basak, K.C., Muammar, E. S. Monilethrix: Improvement with Acetretin. Am J Clin Dermatol. 2005;6:407-10.
14. De Berker, D., Dawber, R. P. Monilethrix treated with oral retinoids. Clin Exper Dermatol. 1991;16:226-28.
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Copyright (c) 2022 Hamad Ayed Alfahaad, Saleh Misfer Alghamdi, Abdullah Moshrif Aladnan
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