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Glossary Pachyonychia Congenita

rare genetic disorder causing thickened nails and painful skin

Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened nails, painful calluses on the soles of the feet and palms of the hands, and other skin abnormalities. It is caused by mutations in one of several keratin genes, which are essential for the structural integrity of skin, hair, and nails.

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research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2

175 citations , September 1998 in “British Journal of Dermatology”

This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.

research Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype

88 citations , June 2000 in “Journal of Investigative Dermatology”

Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.

research A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

61 citations , September 1994 in “Journal of Medical Genetics”

This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.

research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

22 citations , February 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes severe skin and nail issues and hair loss.

research Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique

17 citations , April 1997 in “American Journal of Dermatopathology”

This report provides the first microscopic description of pachyonychia congenita-associated alopecia, identifying a combination of histological features that might be unique to this condition.

research A new type of pachyonychia congenita.

10 citations , July 2001 in “PubMed”

This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.

research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b

4 citations , December 2013 in “The Journal of Dermatology”

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies

3 citations , June 2022 in “European journal of human genetics”

This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

Resolution of Plantar Hyperkeratosis of Pachyonychia Congenita During Chemotherapy for Ewing Sarcoma

research Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma

2 citations , August 2013 in “British Journal of Dermatology”

This case report observed a dramatic improvement in a 15-year-old girl's pachyonychia congenita symptoms during chemotherapy for Ewing sarcoma, suggesting chemotherapy's potential role in managing hyperkeratotic conditions.

research Pachyonychia congenita: Sporadic onset with mutation analysis

January 2023 in “Indian dermatology online journal”

This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.

research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay

21 citations , January 2018 in “PLoS Genetics”

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

research Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita

46 citations , September 2007 in “Journal of Investigative Dermatology”

research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

5 citations , June 2008 in “British Journal of Dermatology”

research Keratins of the Human Hair Follicle

276 citations , January 2005 in “International review of cytology”

More research is needed to understand how hair keratins work and their role in hair disorders.

research The expanding significance of keratin intermediate filaments in normal and diseased epithelia

186 citations , December 2012 in “Current opinion in cell biology”

This review discusses the recent advancements in understanding how keratins influence cytoarchitecture, cell dynamics, and disease processes but reports no new clinical results; the authors highlight its roles in development and diseases like cancer.

research Keratin 17 null mice exhibit age- and strain-dependent alopecia

122 citations , June 2002 in “Genes & Development”

This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.

research Keratin disorders: from gene to therapy

109 citations , September 2011 in “Human molecular genetics online/Human molecular genetics”

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

research Keratins and disease at a glance

87 citations , September 2012 in “Journal of Cell Science”

This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.

research Keratins and skin disease

69 citations , January 2015 in “Cell & tissue research/Cell and tissue research”

Keratin mutations cause skin diseases and could lead to new treatments.

research The keratins and their disorders

53 citations , September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”

This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.

research Genetic hair and nail disorders

37 citations , January 2005 in “Clinics in dermatology”

This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.

research Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis

33 citations , August 2008 in “American Journal Of Pathology”

This study found that K6a expression in mouse sebaceous gland ducts correlates with Hedgehog signaling, suggesting a role in duct fate.

research A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue

31 citations , April 2004 in “Journal of Investigative Dermatology”

This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.

research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations , November 2001 in “Archives of Dermatology”

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

research Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice

15 citations , September 2002 in “Journal of Biological Chemistry”

This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.

research Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin?

10 citations , February 2013 in “British Journal of Dermatology”

This study found that TRH modulates specific keratins in human scalp tissue, suggesting its potential influence on hair growth and the need for further exploration of neuroendocrine controls in keratin expression.

research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting

8 citations , December 2003 in “Experimental Dermatology”

In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.

research Building Models for Keratin Disorders

4 citations , April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.

research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins

1 citations , July 2021 in “IntechOpen eBooks”

This review discusses unspecific factors involved in the pathogenesis of skin diseases and potential ways cytokeratin changes might alleviate these conditions, but reports no new clinical results.

research Painful thickened skin on the soles of the feet

September 2022 in “JAAD case reports”

This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.