The Genetics of Hair Shaft Disorders

June 2008 in “ Journal of The American Academy of Dermatology ”

Amy Cheng, Susan J. Bayliss

Trichothiodystrophy Netherton syndrome Monilethrix Pili Torti Menkes syndrome occipital horn syndrome ATP7A gene Woolly hair disorders curly hair syndromes Marie Unna hypotrichosis Uncombable hair syndrome Loose anagen syndrome Pili annulati

Studysummary 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.

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

In the 2008 article, Cheng and Bayliss reviewed hair shaft defects and associated syndromes, focusing on their genetic causes and clinical presentations. They discussed disorders such as Trichothiodystrophy, Netherton syndrome, Monilethrix, and Pili Torti, detailing the genetic mutations involved and the clinical management of these conditions. The article also covered the genetics of Menkes syndrome and its variant, occipital horn syndrome, which involve mutations in the ATP7A gene affecting copper transport. Woolly hair disorders, curly hair syndromes, and Marie Unna hypotrichosis were mentioned, along with their genetic bases and associated clinical features. Additionally, the document described other hair shaft disorders like Uncombable hair syndrome, Loose anagen syndrome, and Pili annulati, emphasizing the need for ongoing research to develop effective therapies. The document did not provide a cohesive conclusion but served as a resource for understanding the molecular underpinnings of these disorders.

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research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome

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This report describes an 11-year-old boy with Netherton syndrome who developed Cushing syndrome after using low-potency hydrocortisone ointment extensively, highlighting caution with long-term topical treatments in such conditions.

research Is Loose Anagen Hair Syndrome a Keratin Disorder?

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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 Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

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research Hair Structure Anatomy And Comparative Anatomy Dedicated To The Memory Of The Late Dr. R. E. Rivett Whose Untimely Death Prevented His Role In Co-Authorship

50 citations , March 2001 in “Clinics in dermatology”

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research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family

36 citations , October 2000 in “British Journal of Dermatology”

This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.

research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless

29 citations , March 2000 in “Journal of Investigative Dermatology”

The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.

research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

32 citations , January 2000 in “Human Heredity”

This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.

research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix

20 citations , December 1999 in “Journal of Investigative Dermatology”

Mutations in the hHb6 gene cause the hair disorder monilethrix.

research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

62 citations , October 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.

research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6

29 citations , August 1999 in “Journal of Investigative Dermatology”

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

34 citations , November 1998 in “Journal of Investigative Dermatology”

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

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 A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

47 citations , July 1998 in “Journal of Investigative Dermatology”

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

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 Scarring Folliculitis in the Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

20 citations , January 1997 in “Dermatology”

This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.

research Diagnosis of Trichothiodystrophy in Two Siblings

10 citations , January 1997 in “Dermatology”

This case report details two siblings with trichothiodystrophy, identifying reduced hair sulfur content as essential for diagnosis despite varied symptoms complicating recognition.

research Evidence for Genetic Heterogeneity in Monilethrix

30 citations , December 1996 in “Journal of Investigative Dermatology”

research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

43 citations , April 1996 in “Journal of Investigative Dermatology”

research A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13

54 citations , January 1995 in “Human Molecular Genetics”

This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.

research Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings

124 citations , January 1995 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

research Clinical and Laboratory Evaluation of AIDS Trichopathy

35 citations , January 1993 in “International Journal of Dermatology”

In this study, most hair disorders among HIV-1 positive patients were associated with low helper T cell counts, with papulosquamous conditions like seborrheic dermatitis and psoriasis being the most common.

research Dietary Management Reverses Grooving And Abnormal Polarization Of Hair Shafts In Argininosuccinase Deficiency

15 citations , August 1991 in “American Journal of Medical Genetics”

This study observed that a low-protein, arginine-supplemented diet improved the abnormal hair appearance in untreated patients with argininosuccinic aciduria.

research Hair Anatomy for the Clinician

139 citations , July 1991 in “Journal of The American Academy of Dermatology”

This article discusses the structure of hair follicles and their significance in evaluating hair disorders, but it does not report any new research findings.

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 Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl

26 citations , September 1990 in “Ophthalmology”

This case study found that a 7-year-old girl's crystalline cataract had sulfur-containing amino acids likely cystine, and was associated with abnormal hair conditions.

research Woolly Hair Nevus: A Rare Case with Late Onset in Adolescence

40 citations , February 1990 in “Journal of The American Academy of Dermatology”

This study presents the first reported case of woolly hair nevus appearing during adolescence, with significant improvement observed 5 years later and structural changes in the hair documented.

research Loose Anagen Hair of Childhood: The Phenomenon of Easily Pluckable Hair

85 citations , February 1989 in “Journal of The American Academy of Dermatology”

This case report describes a newly identified condition called loose anagen hair of childhood, characterized by easily pluckable hair in two young boys, with variable duration and no scalp inflammation or scarring.

research Pathogenesis of Pili Annulati

36 citations , July 1988 in “Archives of Dermatological Research”

Pili annulati is caused by a protein metabolism disorder affecting hair structure.

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 Structural Abnormalities of the Hair Shaft

126 citations , January 1987 in “Journal of The American Academy of Dermatology”

This article reviews the classification of hair shaft abnormalities, outlining their diagnostic features, but does not present new research findings.

research Trichothiodystrophy: An Ultrastructural Study of the Hair Follicle

42 citations , September 1985 in “British Journal of Dermatology”

This study found that trichothiodystrophic hair shows reduced and disoriented protein deposition in follicles, with both the cuticle and cortex affected, providing localized structural insights into keratin abnormalities.

research Uncombable Hair Syndrome: Observations on Response to Biotin and Occurrence in Siblings with Ectodermal Dysplasia

101 citations , July 1985 in “Journal of the American Academy of Dermatology”

In this study, oral biotin improved hair growth, strength, and combability in a child with uncombable hair syndrome, while hair in two others slowly improved without biotin.

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 Low-Sulfur Hair Syndrome Associated with UVB Photosensitivity and Testicular Failure

30 citations , August 1984 in “Journal of the American Academy of Dermatology”

This case report identified UVB photosensitivity and testicular failure as previously unreported components of low-sulfur hair syndrome in a 16-year-old male.

research Monilethrix Treated with the Oral Retinoid Ro 10-9359 (Tigason)

24 citations , July 1983 in “Clinical and Experimental Dermatology”

Tigason improved hair growth in a boy with monilethrix without side effects.

research Trichothiodystrophy: A Study on Sulfur-Deficient Brittle Hair and Associated Symptoms

175 citations , December 1980 in “Archives of Dermatology”

In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.

research Generalized Trichorrhexis Nodosa: A Case Study

28 citations , July 1980 in “British Journal of Dermatology”

This study describes a case of generalized trichorrhexis nodosa and finds that defects in alpha-keratin chain formation and low cystine levels in hair may contribute to the condition.