Inherited Hair Disorders

October 2016

Eli Sprecher

inherited hair disorders hair growth hair differentiation hair follicle development systemic health issues

Studysummary This discussion highlights the genetic and phenotypic variability in inherited hair disorders and emphasizes the importance of accurate diagnosis due to potential systemic manifestations; no new clinical results are reported.

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

Inherited hair disorders were described as a highly diverse group both in terms of appearance and genetics, caused by abnormal regulation of hair growth and differentiation. These disorders could lead to either excessive or defective hair follicle development. Accurate diagnosis was crucial because many of these disorders could indicate hidden or delayed systemic health issues.

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Research cited in this study

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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 Hairless And The Polyamine Putrescine Form A Negative Regulatory Loop In The Epidermis

10 citations , August 2013 in “Experimental Dermatology”

This study found that Hairless (HR) and putrescine form a negative regulatory network that impacts epidermal homeostasis and hair follicle cycling, linked to the MYC superfamily's regulation of ODC expression.

research Topobiology of Human Pigmentation: P-Cadherin Selectively Stimulates Hair Follicle Melanogenesis

29 citations , January 2013 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, silencing P-cadherin in human scalp hair follicles reduced melanogenesis and associated protein expression, suggesting P-cadherin is crucial for normal hair pigmentation via GSK3β-mediated Wnt signaling.

research Dermatoscopy of Hair Shaft Disorders

68 citations , August 2012 in “Journal of the American Academy of Dermatology”

This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.

research Epithelial Wnt Ligand Secretion Is Required for Adult Hair Follicle Growth and Regeneration

170 citations , July 2012 in “Journal of Investigative Dermatology”

In this study, researchers showed that Wnt ligands secreted by hair follicle epithelium are crucial for hair follicle regeneration and may be significant for treating hair disorders like alopecia.

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 Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

26 citations , December 2011 in “Journal of Investigative Dermatology”

This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

research Clinical Evaluation of Alopecias Using a Handheld Dermatoscope

66 citations , November 2011 in “Journal of The American Academy of Dermatology”

This study concluded that a polarized-light handheld dermatoscope attached to a digital camera is a practical and useful tool for diagnosing different types of alopecia.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

41 citations , November 2011 in “The Journal of Dermatology”

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

research The Role of Vitamin D Receptor Mutations in the Development of Alopecia

109 citations , June 2011 in “Molecular and Cellular Endocrinology”

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome

71 citations , January 2011 in “Orphanet Journal of Rare Diseases”

This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.

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 APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

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.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations , January 2009 in “Nature Genetics”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

research Understanding and Management of Female Pattern Alopecia

30 citations , November 2008 in “Facial Plastic Surgery”

This review discusses hair transplant techniques for female pattern hair loss and reports no new clinical results; it highlights the benefits of transplants combined with various treatments for improved hair density and styling options.

research Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

99 citations , October 2008 in “Journal of Investigative Dermatology”

This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

research The Genetics of Hair Shaft Disorders

59 citations , June 2008 in “Journal of The American Academy of Dermatology”

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

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 Human Hair Follicles Contain Two Forms of ATP-Sensitive Potassium Channels, Only One Sensitive to Minoxidil

102 citations , February 2008 in “The FASEB Journal”

This study found that human hair follicles express ATP-sensitive potassium channels, suggesting that minoxidil acts on these channels and that drugs targeting them may treat hair disorders.

research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria

33 citations , January 2007 in “Pediatric dermatology”

This report describes a 3.5-year-old girl with argininosuccinicaciduria, highlighting congenital trichorrhexis nodosa as a notable feature associated with the disorder.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

research Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

74 citations , September 2006 in “Cell Cycle”

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

research Structural and Molecular Hair Abnormalities in Trichothiodystrophy

71 citations , May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.

research More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players

35 citations , May 2006 in “Journal of Investigative Dermatology”

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

research Matriptase: Potent Proteolysis on the Cell Surface

165 citations , January 2006 in “Molecular Medicine”

This review highlights the role of matriptase in epithelial differentiation and cancer, noting that unregulated matriptase expression can enhance cancer progression in animal models, but reports no new experimental data.

research Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin

40 citations , August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology”

In this case report, a 3-year-old male with IFAP syndrome showed moderate improvement in skin symptoms and corneal erosions but no change in alopecia or photophobia after 6 months of acitretin therapy.

research Short Anagen Syndrome

37 citations , July 2005 in “Journal of The American Academy of Dermatology”

This article reviews the clinicopathologic features of short anagen syndrome in a child and suggests diagnostic methods like clinical examination and scalp hair growth rate measurement, without reporting new clinical results.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

research Genetic Hair and Nail Disorders

37 citations , January 2005 in “Clinics in dermatology”

This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.

research Burden of Hair Loss: Stress and the Underestimated Psychosocial Impact of Telogen Effluvium and Androgenetic Alopecia

162 citations , August 2004 in “Journal of Investigative Dermatology”

This study suggests that stress negatively affects hair growth by inducing inflammation and early hair cycle transitions in mice, which might inform strategies for managing stress-related hair loss in humans.

research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

research Molecular Control of Epithelial-Mesenchymal Interactions During Hair Follicle Cycling

277 citations , June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

This article reviews the role of epithelial-mesenchymal interactions in hair follicle morphogenesis and the hair cycle, suggesting potential paths for developing treatments for hair growth disorders but providing no new clinical findings.

research Is Loose Anagen Hair Syndrome a Keratin Disorder?

84 citations , April 2002 in “Archives of Dermatology”

This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.

research The Biology of Hair Follicles

1113 citations , August 1999 in “The New England Journal of Medicine”

This article discusses the biologic and psychosocial significance of hair, the current limitations in hair growth drugs, and anticipates future therapies based on advancing hair follicle research.

research Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

26 citations , October 1998 in “Experimental Dermatology”

This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.

research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

412 citations , January 1998 in “Science”

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

research A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

100 citations , November 1997 in “Human Genetics”

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

175 citations , August 1997 in “Nature Genetics”

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 Topical Minoxidil in Monilethrix

13 citations , January 1991 in “Dermatology”

Minoxidil helps hair growth in people with monilethrix without side effects.

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.