Indian Journal of Dermatology
E–CASE REPORT
Year
: 2013  |  Volume : 58  |  Issue : 3  |  Page : 243-

Monilethrix: A rare hereditary condition


Adaikalampillai Ganapathy Vikramkumar, Sheela Kuruvila, Satyaki Ganguly 
 Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry, India

Correspondence Address:
Satyaki Ganguly
Department of Dermatology, Venereology and Leprosy, Pondicherry Institute of Medical Sciences, Pondicherry
India

Abstract

Monilethrix is a rare hereditary condition generally considered to be an autosomal-dominant disorder with variable penetrance. Here, we report a case of monilethrix in a 13-year-old boy with an affected sibling. A therapeutic trial with oral N-acetyl cysteine was attempted. There was slight improvement after 2 months of therapy. The hair density, however, did not show any further improvement subsequently. Monilethrix remains as a therapeutic challenge for dermatologists.



How to cite this article:
Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: A rare hereditary condition.Indian J Dermatol 2013;58:243-243


How to cite this URL:
Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: A rare hereditary condition. Indian J Dermatol [serial online] 2013 [cited 2020 Oct 30 ];58:243-243
Available from: https://www.e-ijd.org/text.asp?2013/58/3/243/110869


Full Text

 Introduction



Moniletherix is a rare hereditary condition with variable expressivity characterized by the presence of beaded or spindle-shaped shafts of scalp hair. It is usually inherited as an autosomal-dominant trait but rarely can be autosomal-recessive. It shows considerable variations in age of onset, severity, and course. Hair is usually normal at birth and is progressively replaced by abnormal hair during first few months of life. [1] Here, we report a case of moniletherix, in whom we attempted treatment with oral N-acetylcysteine.

 Case Report



A 13-year-old boy, born to second degree consanguineous parents, had brownish scanty hair since early childhood. His younger brother aged 10 years also had sparse hair over the scalp [Figure 1]. Child was apparently normal till 1½ years of age, after which density of hair reduced from occipital and temporal regions and later over the entire scalp. On examination, the scalp hair was light brown, sparse, and appeared rough. Keratotic papules were seen over scalp. Very few vellus hairs were seen over the body. Diagnosis was confirmed by light microscopy, which showed beaded appearance of hair with nodes and internodes [Figure 2].{Figure 1}{Figure 2}

After counseling, Tab. N-acetylcysteine 600 mg three times daily was given for 6 months. Minimum re-growth of hair was seen after 2 months of treatment, but the hair densityremained status quo subsequently. The hair, which was initially light brown in color, however, became more hyperpigmented.

 Discussion



Monilethix is generally considered to be an autosomal-dominant disorder with variable penetrance [Figure 3]. It is caused by mutations of the genes encoding type 2 hair keratins, hHb1, and hHb6. It is mapped to epithelial keratin gene cluster on 12q11-q13. Mutations have been found in desmoglein 4 in the autosomal-recessive form. [2] Avoiding the trauma is the most effective method of managing this anomaly. Congenitally abnormal hair tends to have an increased susceptibility to weathering and cosmetic damage, which can prevent hair from growing to its maximal length. There is still no definitive treatment recognized. [3] Various treatment modalities like griseofulvin, retinoids, topical 2% minoxidil etc., have shown improvement in isolated cases. [4] Karincoaglu et al. described that a very good clinical and cosmetic result was obtained while treatment was continued with oral acitretin in a 7-year-old girl. However, clinical symptoms recurred after discontinuation of acitretin therapy. [5] Since other hair shaft disorders like trichorrhexis nodosa and pili torti show deficiency in cysteine levels in hair keratin, N acetyl cysteine was tried, which showed slight improvement initially, though this was not persistent. Monilethrix remains a therapeutic challenge for dermatologists. Further studies are necessary to determine the beneficial effect of N-acetyl cysteine in the treatment of monilethrix.{Figure 3}

References

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4Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, et al. Monilethrix treated with minoxidil. J Immunopathol Pharmacol 2011;24:239-42.
5Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: Improvement with acitretin. Am J Clin Dermatol 2005;6:407-10.