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      Monilethrix with Holt-Oram Syndrome: Case Report of a Rare Association

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          Abstract

          Congenital hypotrichosis may be due to a number of causes and may have multiple systemic associations. A child born of second-degree consanguineous marriage was found to have monilethrix as the cause of congenital hypotrichosis. A detailed systemic evaluation in the child revealed atrial septal defect and a hypoplastic right thumb leading to a diagnosis of coexisting Holt-Oram syndrome.

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          A practical, algorithmic approach to diagnosing hair shaft disorders.

          Paradi Mirmirani, Kathie Huang, Vera Price (2011)
          The hair shaft is a unique structure composed of an inner cortex and a protective outer cuticle. Any defects in this normal structure due to genetics or the environment can lead to variations in physical properties. Thus one should suspect a hair shaft disorder if a patient presents with an abnormality or change in hair texture, appearance, manageability or ability to grow hair long. A key feature of the clinical evaluation is to determine whether there is hair breakage (increased fragility) by looking for broken hairs and performing a tug test. Once this determination is made, an algorithmic approach can be used to narrow the differential diagnosis: hair shaft disorders with and without fragility. A hair mount along with other directed questions and examination will almost always allow the clinician to make an in-office diagnosis. Common case scenarios, photographs, and practical tips are provided to illustrate the use of this algorithmic approach in the diagnosis of hair shaft disorders. We have also included a summary of the molecular defects where known, which can be helpful in providing a correlation with clinical findings, in counseling patients, and potentially offering treatment options.
          Article 0 comments Cited 13 times – based on 0 reviews     Review now
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            Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.

            K Djabali, A A Panteleyev, T Lalin … (2003)
            Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair resulting from periodic thinning of the shaft (MIM 158000). The phenotype shows variable penetrance and results in hair fragility and patchy dystrophic alopecia. Mutations of the helix-encoded region in two hair-specific keratins (hHb1 and hHb6) have been identified as responsible for this disorder. We investigated two unrelated families from Russia and Colombia with monilethrix and found two missense mutations in hHb6. In the Russian family, we found a G to A transition at the first base of codon 402, resulting in a lysine substitution (GAG to AAG), designated E402K. In the Colombian family, affected patients carried a missense mutation of codon 413, involving a transition from G to A causing a lysine substitution (GAG to AAG), designated E413K. These two mutations have been identified in other monilethrix families from Europe. Our findings extend the body of evidence implicating recurrent hHb6 and hHb1 mutations in monilethrix families from around the world.
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              Dermoscopy as a tool for rapid diagnosis of monilethrix.

              Monika Slowinska, Adriana Rakowska, Lidia Rudnicka … (2007)
              Monilethrix is a rare cause of hair loss. We present a case of a 44-year-old female, in whom dermoscopy enabled a rapid diagnosis of monilethrix. Dermoscopy images in this patient showed hair shafts with uniform elliptical nodes and intermittent constrictions. Hairs were bended regularly at multiple locations and had a tendency to fracture at constriction sites. The diagnosis of monilethrix was confirmed by light microscopy. In a second patient hair shafts appeared irregularly constricted and had no tendency to bend or break, which was consistent with the diagnosis of pseudomonilethrix. We suggest the term "regularly bended ribbon sign" for describing the specific dermoscopic feature of monilethrix. It differentiates monilethrix from pseudomonilethrix and other causes of hair loss.
              Article 0 comments Cited 6 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Trichology
                Journal ID (iso-abbrev): Int J Trichology
                Journal ID (publisher-id): IJT
                Title: International Journal of Trichology
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0974-7753
                ISSN (Electronic): 0974-9241
                Publication date (Print): Jan-Mar 2015
                Volume: 7
                Issue: 1
                Pages: 33-35
                Affiliations
                [1]Department of Dermatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India
                Author notes
                Address for correspondence: Dr. Vivek Shah, Department of Dermatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai - 600 003, Tamil Nadu, India. E-mail: vivekkshah88@ 123456gmail.com
                Article
                Publisher ID: IJT-7-33
                DOI: 10.4103/0974-7753.153455
                PMC ID: 4387697
                SO-VID: 69b46759-63e4-441a-b6d0-21b053743c5f
                Copyright © Copyright: © International Journal of Trichology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Dermatology
                Keywords: holt-oram syndrome,monilethrix,trichoscopy
                Data availability:
                ScienceOpen disciplines: Dermatology
                Keywords: holt-oram syndrome, monilethrix, trichoscopy

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