Inherited Hair Disorders

October 2016

Eli Sprecher

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

TLDR Genetic hair disorders can indicate other hidden health problems.

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.

View this study on onlinelibrary.wiley.com →

Discuss this study in the Community →

Research cited in this study

45 / 45 results

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

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

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

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

10 citations , August 2013 in “Experimental Dermatology”

Hairless protein and putrescine regulate each other, affecting hair growth and skin balance.

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”

P-cadherin is crucial for hair follicle pigmentation but not skin pigmentation.

research Dermatoscopy of Hair Shaft Disorders

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

Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.

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

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

Wnt ligands are crucial for hair growth and repair.

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”

Cantú syndrome is caused by mutations in the ABCC9 gene.

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

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

New gene identification techniques have improved the understanding and classification of inherited hair disorders.

research Clinical Evaluation of Alopecias Using a Handheld Dermatoscope

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

A handheld dermatoscope helps diagnose different types of hair loss effectively.

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

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

Some hair loss disorders are caused by genetic mutations affecting hair growth.

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

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

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

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

IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.

research Monilethrix Treated with Minoxidil

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

Minoxidil 2% effectively treats Monilethrix without 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”

Certain mutations in a hair growth-related gene cause a type of genetic hair loss.

research Understanding and Management of Female Pattern Alopecia

30 citations , November 2008 in “Facial Plastic Surgery”

The conclusion is that the best approach for treating Female Pattern Hair Loss is a combination of different treatments.

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”

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”

A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.

research The Genetics of Hair Shaft Disorders

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

The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.

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

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

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”

One minoxidil-sensitive potassium channel exists in human hair follicles.

research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria

33 citations , January 2007 in “Pediatric dermatology”

Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.

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

194 citations , November 2006 in “Science”

A genetic mutation in the LIPH gene causes hair loss and growth defects.

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

74 citations , September 2006 in “Cell Cycle”

The HR protein's role as a repressor is essential for controlling hair growth.

research Structural and Molecular Hair Abnormalities in Trichothiodystrophy

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

TTD hair brittleness is caused by multiple structural abnormalities.

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”

Matriptase is crucial for skin, hair, and immune cell health, and its imbalance can lead to cancer.

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”

Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.

research Short Anagen Syndrome

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

Short anagen syndrome involves a hair growth phase lasting 1.5 years.

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

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

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

research Genetic Hair and Nail Disorders

37 citations , January 2005 in “Clinics in dermatology”

Recent progress has been made in understanding inherited hair and nail disorders.

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”

Hair loss causes stress and affects mental health; treatment and support needed.

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”

Vitamin D receptor and hairless protein are essential for hair growth.

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”

Epithelial-mesenchymal interactions control hair growth cycles through specific molecular signals.