Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Home Print this page Email this page Small font size Default font size Increase font size Users Online: 1021

 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 56-58

Monilethrix: A rare case diagnosed by dermoscopy


Department of Dermatology, Smt. Kashibai Navale Medical College and General Hospital, Pune, Maharashtra, India

Date of Submission02-Dec-2019
Date of Decision03-Sep-2019
Date of Acceptance27-Nov-2019
Date of Web Publication24-Dec-2019

Correspondence Address:
Dr Aditya Rajendra Holani
Department of Dermatology, Smt. Kashibai Navale Medical College, Narhe, Pune, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_78_19

Rights and Permissions
  Abstract 


Monilethrix is a rare genodermatosis characterized by hair shaft dysplasia, which is responsible for hypotrichosis. We present the case of a 2-year-old female, with involvement of the scalp, eyebrows, and eyelashes, in whom dermoscopy enabled a rapid diagnosis of monilethrix. Dermoscopy revealed the zones of intermittent constriction of the hair shaft, separated by elliptical nodes at regular intervals, giving the appearance of a characteristic “regularly bended ribbon” sign. This helped in differentiating it from pseudomonilethrix and other causes of hypotrichosis.

Keywords: Alopecia, beaded hair, dermoscopy, monilethrix


How to cite this article:
Holani AR, Haridas NS, Shah NG, Chaudhari N. Monilethrix: A rare case diagnosed by dermoscopy. Indian J Paediatr Dermatol 2020;21:56-8

How to cite this URL:
Holani AR, Haridas NS, Shah NG, Chaudhari N. Monilethrix: A rare case diagnosed by dermoscopy. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Jan 21];21:56-8. Available from: http://www.ijpd.in/text.asp?2020/21/1/56/273840




  Introduction Top


The term “monilethrix” is derived from the Latin word “monile” meaning “necklace” and the Greek word “thrix” meaning “hair.” The first case of monilethrix was described by Walter Smith in 1879, “as a rare nodose condition of hair.”[1] However, the term “monilethrix” was coined by Radcliff Crocker. Monilethrix is transmitted as an autosomal dominant trait with high penetrance but variable expressivity. However, there are a few sporadic cases with autosomal recessive inheritance reported in the literature.[2] It is characterized by localized or widespread dystrophy of the hair shaft causing patchy or diffuse hair loss. The hair shaft shows regular variation in diameter, producing alternate “nodes” and “internodes” which confer a characteristic beaded or moniliform appearance to the hair. Clinically, it may present with a varying degree of severity ranging from dystrophic hair confined only to the occiput to total alopecia. Monilethrix may be associated with keratosis pilaris, leukonychia, koilonychia, dental, ophthalmic anomalies, and metabolic abnormalities.


  Case Report Top


A 2-year-old female born of a nonconsanguineous marriage presented to us with a history of decreased hair growth, increased hair fragility, and sparsity of the hair over the scalp and eyebrows since birth. The parents stated that the hair used to break on growing a few millimeters to the scalp surface. There was no similar history in any of the family members.

Clinical examination revealed diffuse alopecia involving the whole scalp and eyebrows [Figure 1]a and [Figure 1]b. Multiple small keratotic papules were noted on the scalp, nape of the neck, bilateral arms, and elbows. The scalp was gritty on palpation.
Figure 1: (a) Diffuse alopecia involving the scalp and eyebrows. (b) Keratotic papules on the occipital region and the nape of the neck

Click here to view


A developmental examination of the child showed normal features. There were no nail, dental, sweat gland, ophthalmic, or other systemic abnormalities. There were no hematological abnormalities noted in routine workup. Her serum copper and ceruloplasmin levels were also normal. The examination of the parents and the elder brother was unremarkable.

Trichoscopy was performed with a handheld ×10 contact dermoscope (Dermlite Dl3N). Trichoscopy of the scalp revealed the presence of small, broken hair fragments of varying lengths along with numerous perifollicular white dots [Figure 2]. Examination of the eyebrows revealed characteristic beaded appearance of the hair. They showed bending in different directions with a tendency to break at internodes revealing the “regularly bended ribbon sign.” Varying lengths of hair and breakage at different levels from the skin surface were also appreciated [Figure 3]a and [Figure 3]b. Examination of eyelashes revealed distal breakage and typical beading in a few vellus hairs [Figure 4]. The diagnosis of monilethrix was adopted on the basis of these specific features.
Figure 2: Trichoscopy of the scalp showing small, broken hair fragments of varying lengths, along with numerous perifollicular white dots

Click here to view
Figure 3: (a and b) Trichoscopy of eyebrows showing hair beading and breakage at different levels. Affected hairs bend in different directions revealing the “regularly bended ribbon sign”

Click here to view
Figure 4: The eyelashes show distal breakage and typical beading in a few vellus hairs

Click here to view


The parents were counselled regarding the nature of the disease. She was started on Biotin supplements, and the need to avoid trauma to the hair was emphasized.


  Discussion Top


Monilethrix, a genodermatosis, is caused by a mutation in the hair keratin genes. In majority of the cases, it is due to mutations in the keratin gene type II encoding hHb1, hHb3, and hHb6 present over chromosome 12q11-q13.[3] An autosomal dominant inheritance pattern is seen with the mutation in hair keratin genes KRT81, KRT83, or KRT 86.[4] An autosomal recessive form has also been described and is caused by the mutation of the gene DSG4 coding for desmoglein 4.[5] The most frequent mutation is E413 and hHb6. The diagnosis of monilethrix was more difficult to establish in our patient owing to the absence of any familial cases. One probable reason is that it might be an autosomal recessive form of the disorder.[6] As penetrance of the disease is also variable from one subject to another, the diagnosis may have been missed in one of the two parents despite a thorough examination.[7]

The diagnosis of monilethrix is essentially clinical, usually confirmed by microscopy of the hair shaft or histology showing abnormal hair follicles with alternating constricted and normal portions in a few cases. The hair shaft appears normal at birth, but soon thereafter, nodes begin to form along the hair shaft at regular intervals of 0.5–1 mm. This is probably related to external trauma. Recent studies have demonstrated the abnormalities of the cuticle, cortex, and keratinizing zones of the hair follicles.[8] There is a considerable variation in the age of onset and the extent of involvement. The short and stubble brittle hair is more prominent on the occipital region and is seen emerging from the top of the horny follicular papules. The condition usually remains confined to the scalp, but other areas such as the eyebrows, eyelashes, axillary hair, pubic hair, and the hair on the rest of the body can also be involved.

Trichoscopy is much easier and less time-consuming than ex vivo microscopic examination, and the latter was not performed in this patient because of the inadequacy of the sample. The characteristic trichoscopic feature is “regularly bended ribbon sign” with periodic alteration of constrictions (defect) and nodes (real hair diameter) causing the characteristic beading.[9] The nodes seem to represent the normal growth, and the internodes are characterized by the wrinkling of cortical cells leading to fragility of the hair with an absence of the medulla. In addition, perifollicular keratotic papules may be visualized. The presence of these typical signs in our patient was immediately suggestive of the diagnosis.

In general, monilethrix is not associated with any systemic disturbances. However, a few rare cases have been reported with trichorrhexis nodosa, physical/mental retardation, juvenile cataracts, teeth and nail abnormalities, syndactyly, and metabolic abnormalities (aminoaciduria). The course and outcome of this condition are very unpredictable. It may persist throughout life or spontaneous partial or complete remission can occur with age. An improvement during adolescence and pregnancy has been documented, suggesting a hormonal influence. There is no effective way to treat monilethrix. Many single-case reports showing improvement with topical 2% minoxidil, biotin, iron supplements, N-acetyl cysteine, acitretin, steroids, oral contraceptive pills, and griseofulvin have been reported.[10],[11],[12] The avoidance of trauma remains the cornerstone of management of this hair disorder.[13] Artificial hairpieces or wigs for better cosmesis can also be considered.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
De Berker DA, Ferguson DJ, Dawber RP. Monilethrix: A clinicopathological illustration of a cortical defect. Br J Dermatol 1993;128:327-31.  Back to cited text no. 1
    
2.
Arif T, Majid I, Haji IM, Samoon N. Monilethrix – Case report of a rare disease. Our Dermatol Online 2015;6:46-8.  Back to cited text no. 2
    
3.
Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, et al. A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. J Invest Dermatol 1998;111:896-9.  Back to cited text no. 3
    
4.
Jin W, Yongli L, Wenrong X, Zhongming L, Weixin F. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix. J Biomed Res 2011;25:49-55.  Back to cited text no. 4
    
5.
Kato M, Shimizu A, Yokoyama Y, Kaira K, Shimomura Y, Ishida-Yamamoto A, et al. An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response. J Invest Dermatol 2015;135:1253-60.  Back to cited text no. 5
    
6.
Bindurani S, Rajiv S. Monilethrix with variable expressivity. Int J Trichology 2013;5:53-5.  Back to cited text no. 6
    
7.
Baltazard T, Dhaille F, Chaby G, Lok C. Value of dermoscopy for the diagnosis of monilethrix. Dermatol Online J 2017;23. pii: 13030/qt9hf1p3xm..  Back to cited text no. 7
    
8.
Qazi MA, Iffat H, Shah P. Monilethrix. Indian J Dermatol 2002;132:574-5.  Back to cited text no. 8
    
9.
Sharma VK, Chiramel MJ, Rao A. Dermoscopy: A rapid bedside tool to assess monilethrix. Indian J Dermatol Venereol Leprol 2016;82:73-4.  Back to cited text no. 9
[PUBMED]  [Full text]  
10.
Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: Improvement with acitretin. Am J Clin Dermatol 2005;6:407-10.  Back to cited text no. 10
    
11.
Rossi A, Iorio A, Scali E, Fortuna MC, Mari E, Palese E, et al. Monilethrix treated with minoxidil. Int J Immunopathol Pharmacol 2011;24:239-42.  Back to cited text no. 11
    
12.
Keipert JA. The effect of griseofulvin on hair growth in monilethrix. Med J Aust 1973;1:1236-8.  Back to cited text no. 12
    
13.
Avhad G, Ghuge P. Monilethrix. Int J Trichology 2013;5:224-5.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

Top
 
 
  Search
 
Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

 
  In this article
Abstract
Introduction
Case Report
Discussion
References
Article Figures

 Article Access Statistics
    Viewed78    
    Printed0    
    Emailed0    
    PDF Downloaded24    
    Comments [Add]    

Recommend this journal