Review of Keratin Disorders

November 2019 in “ Harper's Textbook of Pediatric Dermatology ”

Maurice A. M. Van Steensel, Peter M. Steijlen

keratin epithelial keratins molecular genetics genetic mutations skin disorders hair disorders nail disorders

TLDR Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.

This chapter reviewed disorders caused by mutations in genes coding for epithelial keratins, which are crucial for the structural integrity of cells and tissues. These mutations led to various disorders affecting the skin, hair, and nails, with symptoms ranging from mild to severe. Accurate diagnosis increasingly relied on molecular genetics. Although there were no specific treatments available at the time, advancements in understanding the biology of these disorders suggested potential future developments in treatment options.

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research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats

40 citations , June 2013 in “Scientific Reports”

A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

research Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation

11 citations , July 2010 in “European Journal of Dermatology”

The condition is linked to chromosome 12, but no mutations were found in the known genes.

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.

research The Human Keratins: Biology And Pathology

1398 citations , May 2008 in “Histochemistry and Cell Biology”

Keratins are crucial for cell stability, wound healing, and cancer diagnosis.

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”

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

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

Mutations in the DSG4 gene cause specific hair and scalp issues.

research An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

88 citations , March 2004 in “Journal of Investigative Dermatology”

research A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.

research Human Hair Keratins

90 citations , July 1993 in “Journal of Investigative Dermatology”

Review of Keratin Disorders

Research cited in this study

research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats

research Loss-Of-Function Mutations In HOXC13 Cause Pure Hair And Nail Ectodermal Dysplasia

research Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation

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

research The Human Keratins: Biology And Pathology

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

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

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

research An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

research A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

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

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

research Human Hair Keratins