Alopecias And Hypotrichoses In Childhood

June 2014 in “ Der Hautarzt ”

Regina C. Betz

monogenic inherited isolated alopecias autosomal dominant autosomal recessive molecular genetic diagnostics keratin gene KRT86 monilethrix atrichia congenita hypotrichosis genetic mutations genetic alopecia genetic hair loss hair growth physiology

TLDR Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.

The document discussed monogenic inherited isolated alopecias, a group of clinically and genetically diverse disorders characterized by reduced or absent hair. Both genders were equally affected, with inheritance patterns being either autosomal dominant or recessive. Although no therapies existed for these rare alopecia forms, molecular genetic diagnostics were available to identify genetic causes and assess recurrence risks. Since the identification of the keratin gene KRT86 as a cause of monilethrix in 1997, mutations in 11 other genes were identified for various isolated alopecias, including genes for monilethrix, atrichia congenita, and different forms of hypotrichosis. These genetic studies significantly advanced the understanding of hair loss mechanisms and hair growth physiology.

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Research cited in this study

13 / 13 results

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”

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 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 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 (KRT74), 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 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 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 An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

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

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”

research Alopecia Universalis Associated with a Mutation in the Human hairless Gene

412 citations , January 1998 in “Science”

The study investigated a kindred with a rare, recessively inherited type of alopecia universalis to identify the genetic basis of this condition. Through homozygosity mapping, researchers established linkage in a 6-centimorgan interval on chromosome 8p12, with a significant logarithm of the odds score of 6.19. They identified a missense mutation in the human homolog of the murine hairless gene within this interval. The human hairless gene encodes a putative single zinc finger transcription factor protein, which is expressed in the brain and skin, suggesting its role in the development of alopecia universalis.

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

175 citations , August 1997 in “Nature Genetics”

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

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research The Genetics of Human Skin Disease

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research Proceedings of the Ninth World Congress for Hair Research 2015

January 2017 in “Journal of Investigative Dermatology Symposium Proceedings”

The 2015 Hair Research Congress concluded that stem cells, maraviroc, and simvastatin could potentially treat Alopecia Areata, topical minoxidil, finasteride, and steroids could treat Frontal Fibrosing Alopecia, and PTGDR2 antagonists could also treat alopecia. They also found that low-level light therapy could help with hair loss, a robotic device could assist in hair extraction, and nutrition could aid hair growth. They suggested that Alopecia Areata is an inflammatory disorder, not a single disease, indicating a need for personalized treatments.

research Clinical and Molecular Genetic Studies in Hereditary Hair Loss

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Alopecias And Hypotrichoses In Childhood

Research cited in this study

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

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

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

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

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

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

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

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

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

research Alopecia Universalis Associated with a Mutation in the Human hairless Gene

research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

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