Genetic Hair Disorders: A Review

July 2019 in “ Dermatology and Therapy ”

Azhar Ahmed, Hind M. Almohanna, Jacob Griggs, Antonella Tosti

androgenetic alopecia alopecia areata monilethrix hypotrichosis hair shaft disorders ectodermal dysplasia genetic testing topical minoxidil systemic retinoid therapy Rogaine

From the encyclopedia

Alopecia Areata →

autoimmune disorder causing patchy hair loss

Minoxidil →

An essential vasodilator with some anti-androgenic effects

Studysummary This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The document "Genetic Hair Disorders: A Review" from July 22, 2019, provided a comprehensive review of various genetic hair disorders, their causes, symptoms, and potential treatments. The disorders discussed included androgenetic alopecia, alopecia areata, monilethrix, hypotrichosis, hair shaft disorders, and ectodermal dysplasia, among others. These disorders were often caused by mutations in specific genes, which could be inherited from one or both parents. The review emphasized the importance of genetic testing in diagnosing these conditions and guiding treatment strategies. Treatments varied from disorder to disorder, with some showing promising results with topical minoxidil and systemic retinoid therapy, while others had no cure and treatment focused on managing symptoms. The document was based on a review of 159 articles published within the last 50 years.

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Research cited in this study

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research Trichoscopy in Hair Shaft Disorders

36 citations , August 2018 in “Dermatologic Clinics”

This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.

research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome

4 citations , January 2018 in “Annals of dermatology/Annals of Dermatology”

Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.

research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

9 citations , June 2017 in “American journal of ophthalmology. Case reports”

This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.

research New CDH3 Mutation in the First Spanish Case of Hypotrichosis with Juvenile Macular Dystrophy: A Case Report

23 citations , January 2017 in “BMC Medical Genetics”

This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.

research Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study

5 citations , January 2017 in “Arquivos Brasileiros de Oftalmologia”

This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.

research Morphological Analyses in Fragility of Pili Torti with Björnstad Syndrome

4 citations , November 2016 in “The Journal of Dermatology”

This study found that the weak tensile strength of pili torti hair may result from loose keratin intermediate filaments due to abnormalities in disulfide bonds.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I

33 citations , June 2016 in “Pediatric Dermatology”

This review examines hair shaft disorders, reporting limited evidence for treatments like minoxidil and oral retinoids, and emphasizes gentle hair care and genetic counseling for managing congenital cases.

research Tissue Expansion for Correction of Alopecia in a Child with Hypohidrotic Ectodermal Dysplasia

2 citations , May 2016 in “Journal of dermatology”

This letter discusses tissue expansion for correcting alopecia in a child with hypohidrotic ectodermal dysplasia, but provides no new experimental results.

research Treatment of Monilethrix with Oral Minoxidil

37 citations , May 2016 in “JAAD case reports”

This abstract describes monilethrix, an autosomal dominant genodermatosis with symptoms like hair fragility and keratosis pilaris, and does not report new experimental results.

research Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update

85 citations , August 2015 in “Journal of Applied Genetics”

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

research Monilethrix: A Typical Case Report with Microscopic and Dermatoscopic Findings

20 citations , February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia”

This case report describes a 6-year-old girl diagnosed with monilethrix despite no familial history and treated with a topical minoxidil trial.

research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

18 citations , January 2015 in “Experimental Dermatology”

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

research The Twisting Tale of Woolly Hair: A Trait with Many Causes

18 citations , January 2015 in “Journal of medical genetics”

This review discusses the genetic basis of woolly hair syndrome and its potential link to heart disorders, highlighting recent discoveries of new molecular pathways and suggesting possible future treatment options.

research Alopecias And Hypotrichoses In Childhood

5 citations , June 2014 in “Der Hautarzt”

This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.

research Congenital Atrichia With Papular Lesions

8 citations , January 2014 in “Indian Journal of Paediatric Dermatology”

This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

research Marie-Unna Hereditary Hypotrichosis

4 citations , January 2014 in “International Journal of Trichology”

This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.

research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

43 citations , December 2013 in “Seminars in Cell & Developmental Biology”

This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.

research Trichorrhexis Nodosa After Hair Transplantation: Dermoscopic, Pathologic and Electron Microscopy Analyses

9 citations , November 2013 in “Dermatologic Surgery”

Hair transplant complications were likely due to deep graft placement and rough handling.

research Hair Shafts in Trichoscopy

86 citations , October 2013 in “Dermatologic Clinics”

Trichoscopy is a useful non-invasive method for diagnosing different hair loss conditions.

Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging

15 citations , May 2013 in “American Journal of Medical Genetics - Part A”

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

research Topical Minoxidil Treatment for Congenital Alopecia in Hypohidrotic Ectodermal Dysplasia

12 citations , March 2013

This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.

research Clinical Effects of Non-Ablative and Ablative Fractional Lasers on Various Hair Disorders: A Case Series of 17 Patients

46 citations , March 2013 in “Journal of Cosmetic and Laser Therapy”

This study found that non-ablative and/or ablative fractional lasers promoted hair growth in patients with certain uncommon hair disorders, though effectiveness varied among different conditions.

research A Rare Case of Woolly Hair with Unusual Associations

12 citations , January 2013 in “Indian dermatology online journal”

This case report presents a patient with woolly hair and associated symptoms, including keratosis pilaris, nail dystrophy, increased interdental spaces, and recurrent bullous impetigo, observing a combination not previously reported.

research Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

39 citations , December 2012 in “The American Journal of Human Genetics”

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy

15 citations , November 2012 in “Archives of Ophthalmology”

This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.

research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research Prevalent Founder Mutation c.736T>A of LIPH in Autosomal Recessive Woolly Hair of Japanese Leads to Variable Severity of Hypotrichosis in Adulthood

12 citations , March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

This study observed that some patients with homozygous c.736T>A mutation in LIPH may have mild hypotrichosis with long hairs in adulthood.

research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy

13 citations , February 2012 in “International Journal of Dermatology”

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

research Pili Annulati with Fragility: Electron Microscopic Findings of a Case

13 citations , January 2012 in “International journal of trichology”

This case study describes a 14-year-old girl with pili annulati who had fragile hair, which may be due to cavities within the hair shafts as seen in electron microscopic examinations.

research Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

12 citations , March 2011 in “Pediatric dermatology”

This report describes a new case of Marie-Unna hereditary hypotrichosis in an 18-year-old girl, marking the first occurrence in a previously unaffected family.

research Atrichia With Papular Lesions

8 citations , January 2011 in “International journal of trichology”

This report discusses the accurate diagnosis of atrichia with papular lesions, emphasizing its distinction from alopecia universalis to prevent unnecessary steroid treatment, and presents a case matching APL diagnostic criteria.

research Monilethrix Treated with Minoxidil

23 citations , January 2011 in “International Journal of Immunopathology and Pharmacology”

In this small study, topical minoxidil 2% was associated with an increase in normal hair shaft production in patients with Monilethrix without any reported side effects.

research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

11 citations , September 2010 in “American Journal of Medical Genetics - Part A”

This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.

research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family

7 citations , May 2010 in “Journal of Cutaneous Pathology”

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin

research Alopecia in Congenital Hidrotic Ectodermal Dysplasia Responding to Treatment with a Combination of Topical Minoxidil and Tretinoin

20 citations , January 2009 in “International Journal of Dermatology”

This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Monilethrix in Three Generations

6 citations , January 2008 in “Indian Journal of Dermatology”

This case report describes a rare autosomal dominant hair shaft disorder, monilethrix, observed in three consecutive generations of a family, with gradual improvement noted with age.

research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects

25 citations , September 2005 in “Journal of the American Academy of Dermatology”

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings

30 citations , August 2005 in “British journal of dermatology/British journal of dermatology, Supplement”

This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.

research Molecular Principles of Hair Follicle Induction and Morphogenesis

479 citations , January 2005 in “BioEssays”

This review introduces the morphological and molecular principles of hair follicle development but reports no new experimental results, focusing on recent insights and forming a working hypothesis.

research Hypotrichosis and Nail Dysplasia: A Novel Hidrotic Ectodermal Dysplasia

21 citations , April 2004 in “Australasian Journal of Dermatology”

This report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

research Acquired Hair Fragility in Pili Anulati: Causal Relationship with Androgenetic Alopecia

9 citations , January 2001 in “Dermatology”

This study reports two cases where pili anulati, typically a non-fragile hair condition, showed increased fragility due to androgenetic alopecia, causing hair shaft fracturing in the affected area.

research Clinical Response of Alopecia, Trichorrhexis Nodosa, and Dry, Scaly Skin to Zinc Supplementation

22 citations , December 1992 in “The journal of pediatrics/The Journal of pediatrics”

This study reported that oral zinc therapy improved hair and skin abnormalities in patients with dry brittle hair, alopecia, and other symptoms, regardless of demonstrated zinc deficiency.

research Monilethrix Treated with Oral Retinoids

26 citations , May 1991 in “Clinical and experimental dermatology”

In this study, oral etretinate resulted in increased hair length and loss of beading in a childhood monilethrix case, while the scalp's keratosis pilaris persisted.

research Uncombable Hair (Pili Trianguli Et Canaliculi): Evidence for Dominant Inheritance with Complete Penetrance Based on Scanning Electron Microscopy

33 citations , September 1987 in “American Journal of Medical Genetics”

This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.

research Pili Torti in Association with Citrullinemia

28 citations , January 1985 in “Journal of the American Academy of Dermatology”

This report presents a case of pili torti in a young girl with citrullinemia, a novel association not previously documented.

research Pathogenesis in Trichorrhexis Invaginata (Bamboo Hair)

72 citations , July 1984 in “Journal of Investigative Dermatology”