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      Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness ☆ ☆☆

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          Abstract

          Monilethrix is a rare defect of the hair shaft, with most cases showing an autosomal dominant pattern of inheritance and variable clinical expression. It is characterized by hypotrichosis secondary to hair fragility. The diagnosis is made through trichoscopy, detecting typical findings such as periodic narrowing at regular intervals, giving the hair the appearance of beads in a rosary. This article reports the case of six members of a family diagnosed with monilethrix with alopecia of varying degrees.

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          Population genomics of human gene expression.

          Claude Beazley, Panos Deloukas, Antigone Dimas … (2007)
          Genetic variation influences gene expression, and this variation in gene expression can be efficiently mapped to specific genomic regions and variants. Here we have used gene expression profiling of Epstein-Barr virus-transformed lymphoblastoid cell lines of all 270 individuals genotyped in the HapMap Consortium to elucidate the detailed features of genetic variation underlying gene expression variation. We find that gene expression is heritable and that differentiation between populations is in agreement with earlier small-scale studies. A detailed association analysis of over 2.2 million common SNPs per population (5% frequency in HapMap) with gene expression identified at least 1,348 genes with association signals in cis and at least 180 in trans. Replication in at least one independent population was achieved for 37% of cis signals and 15% of trans signals, respectively. Our results strongly support an abundance of cis-regulatory variation in the human genome. Detection of trans effects is limited but suggests that regulatory variation may be the key primary effect contributing to phenotypic variation in humans. We also explore several methodologies that improve the current state of analysis of gene expression variation.
          Article 0 comments Cited 76 times – based on 0 reviews     Review now
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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.
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              A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.

              W. Ahmad, A Naveed, A. Jan … (2015)
              Autosomal recessive hypotrichosis is a rare human hereditary disorder presenting as sparse scalp hair or as woolly hair occurring on various parts of the body. Various forms of isolated hypotrichosis have been reported to date. Mutations in at least 11 genes have been reported to cause hypotrichosis.
              Article 0 comments Cited 10 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Daniela Antoniali
                Journal
                Journal ID (nlm-ta): An Bras Dermatol
                Journal ID (iso-abbrev): An Bras Dermatol
                Title: Anais Brasileiros de Dermatologia
                Publisher: Sociedade Brasileira de Dermatologia
                ISSN (Print): 0365-0596
                ISSN (Electronic): 1806-4841
                Publication date PMC-release: 14 July 2021
                Publication date (Print): Sep-Oct 2021
                Publication date (Electronic): 14 July 2021
                Volume: 96
                Issue: 5
                Pages: 569-573
                Affiliations
                [0005]Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, Universidade de São Paulo, Ribeirão Preto, SP, Brazil
                Author notes
                [* ]Corresponding author. dani_antoniali@ 123456hotmail.com
                Article
                Publisher Item ID: S0365-0596(21)00155-0
                DOI: 10.1016/j.abd.2020.07.019
                PMC ID: 8441526
                PubMed ID: 34272078
                SO-VID: daf62150-cb55-4a7b-8546-b9d3a7fd918e
                Copyright © © 2021 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U.
                License:

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 15 July 2020
                Date accepted : 28 July 2020
                Categories
                Subject: Case Report

                Keywords: alopecia,hair diseases,hypotrichosis,monilethrix
                Data availability:
                Keywords: alopecia, hair diseases, hypotrichosis, monilethrix

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