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

Studysummary This chapter reviews disorders caused by mutations in epithelial keratins, highlighting a range of skin-related manifestations and the evolving role of molecular genetics in diagnosis, but reports no new clinical findings. Our plain-language summary of this paper — not a Tressless recommendation.

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”

This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.

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”

This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.

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”

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

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”

This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

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”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

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

60 citations , March 2006 in “Journal of Medical Genetics”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

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

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

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 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”

This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.

research Human Hair Keratins

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