Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented. [ncbi.nlm.nih.gov]

Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. [discovery.dundee.ac.uk]

Thick, yellowish, hyperkeratotic plaques were present over the pressure points of the soles (Fig. 2). Palms also showed thick, hyperkeratotic papules. [edoj.org.eg]

The patient came for consultation to the Respiratory Endoscopy Service for dysphonia present from the age of 10 months ( Fig. 1 ). [elsevier.es]

• Nail Abnormality

  Diagnosis The diagnosis may be suspected if a young child has extensive nail abnormalities including thickened nail beds and unusually formed nail plates. [socialstyrelsen.se]

• Pachyonychia

  […] syndrome|Pachyonychia|Pachyonychia congenita|Pachyonychia congenita syndrome|Pachyonychia congenita syndrome (disorder)|Pachyonychia congenita type II of Jackson-Lawler|Pachyonychia congenita type II of Jackson-Lawler (disorder)|Pachyonychia congenita [averbis.com]

  Home Pachyonychia Congenita Home Pachyonychia Congenita Pachyonychia Congenita, Congenital Pachyonychia, Pachyonychia Congenita Type 1, Jadassohn Lewandowsky Syndrome, Pachyonychia Congenita Syndrome, Congenital Pachyonychias, Jackson-Lawler Syndrome-Pc [xpertdox.com]

  17 Pachyonychia congenita and steatocystoma multiplex. 56 Hodes ME...Norins AL 577197 1977 18 Steatocystoma multiplex with pachyonychia congenita. [malacards.org]

  Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented. [ncbi.nlm.nih.gov]

  Type Pachyonychia, Congenital Pachyonychias, Congenital Syndrome, Pachyonychia Congenita Syndromes, Pachyonychia Congenita Pachyonychia Congenita Type 1 Pachyonychia Congenita, Type 1 Pachyonychia Congenita, Type 2 [decs.bvs.br]

• Sparse to No Eyebrows

  […] and thin eyebrow ; Sparse scalp hair ; Steatocystoma multiplex ; Subungual hyperkeratosis Associated Genes KRT17 (Withdrawn symbols: PCHC1 ) Mouse Orthologs Krt17 (Withdrawn symbols: Krt1-17 ) Source OMIM:167210 (names, synonyms, disease associated genes [mousephenotype.org]

  Genes related to Pachyonychia Congenita 2; Pc2 KRT17 Clinical Features Top most frequent phenotypes and symptoms related to Pachyonychia Congenita 2; Pc2 Hyperkeratosis Hyperhidrosis Nail dystrophy Nail dysplasia Sparse scalp hair Sparse and thin eyebrow [mendelian.co]

• Thin Eyebrows

  […] genetic, skin Phenotypes Autosomal dominant inheritance ; Dry hair ; Epidermoid cyst ; Folliculitis ; Heterogeneous ; Hoarse voice ; Nail dysplasia ; Nail dystrophy ; Natal tooth ; Palmoplantar hyperhidrosis ; Palmoplantar hyperkeratosis ; Sparse and thin [mousephenotype.org]

  Genes related to Pachyonychia Congenita 2; Pc2 KRT17 Clinical Features Top most frequent phenotypes and symptoms related to Pachyonychia Congenita 2; Pc2 Hyperkeratosis Hyperhidrosis Nail dystrophy Nail dysplasia Sparse scalp hair Sparse and thin eyebrow [mendelian.co]

• Dry Hair

  Name Pachyonychia Congenita 2 Synonyms PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY Classification developmental, genetic, skin Phenotypes Autosomal dominant inheritance ; Dry hair ; Epidermoid cyst ; Folliculitis ; Heterogeneous ; Hoarse voice [mousephenotype.org]

  Hoarse voice Palmoplantar hyperkeratosis Natal tooth Dry hair And another 6 symptoms. [mendelian.co]

• Sparse to No Body Hair

  […] eyebrow and body hair, and by the presence of natal teeth. [uniprot.org]

• Withdrawn

  […] symbols: PCHC1 ) Mouse Orthologs Krt17 (Withdrawn symbols: Krt1-17 ) Source OMIM:167210 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based [mousephenotype.org]

No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. [idoj.in]

Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc 2005; 10(1): 18-20. Gruber R, Edlinger M, Kaspar RL, et al. An appraisal of oral retinoids in the treatment of pachyonychia congenita. J Am Acad Dermatol 2011 May 21. [adc.mef.hr]

Our mission is to develop and deliver effective treatments for Pachyonychia Congenita patients worldwide. [diseaseinfosearch.org]

Management and treatment There is no curative treatment for PC yet. [orpha.net]

Treatment/interventions There is currently no cure for the disease and treatment focuses on alleviating individual symptoms. [socialstyrelsen.se]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]

Prognosis Complications may include secondary infection that is usually well controlled by antibiotics therapy. [orpha.net]

–10,000 cases have been reported worldwide. [10] Sex Pachyonychia congenita affects both sexes equally. [5, 11] Age Patients with pachyonychia congenita often present at birth or soon after with the characteristic hypertrophic toenail dystrophy. [5] Prognosis [emedicine.medscape.com]

Etiology Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant [orpha.net]

GENETIC CAUSES OF PACHYONYCHIA CONGENITA Etiology & Pathogenesis 1/31/2015 Prepared by Dixi Dawn F. Apigo 10. [slideshare.net]

Gilchrist RV, Slipman CW, Bhagia SM, Lenrow DA, Chou LH, Chow D: "Painless footdrop: an atypical etiology of a common presentation." Pain Physician, 5(4):419-421, 2002 41. [spineuniverse.com]

Etiology Genetic: Keratins 6a, 6b, 16, and 17. Keratin 6c may produce an attenuated phenotype known as hereditary painful callosities. Pathogenic mutation in one of the above keratins compromises appropriate filament formation. [dermatologyadvisor.com]

Summary Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. [orpha.net]

Any secondary infection may need to be treated with antibiotics, though infection can often be prevented with appropriate grooming and vinegar or bleach baths.[12][1][7] Epidemiology[edit] Pachyonychia congenita is a rare disorder with an unknown prevalence [en.wikipedia.org]

Objectives This review focuses on recent progress made towards understanding the pathophysiology of PPK lesions, the most prevalent and debilitating of all PC symptoms. [onlinelibrary.wiley.com]

Pathophysiology The condition is caused by genetic mutations in one of four genes that encode keratin proteins specific to the epithelial tissues affected in the two forms of the disorder. [wikidoc.org]

Caterina British Journal of Dermatology (2020) Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment A.G. Zieman & P.A. [nature.com]

[…] leukokeratosis Cysts, including steatocystoma multiplex Follicular hyperkeratosis Natal or prenatal teeth Blisters Excessive sweating of the palms and soles Excess earwax production Ear pain Hoarseness Angular chelitis Fingernail and toenail infections Pathophysiology [en.wikipedia.org]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [ehardts.com]

Prevention General : Because pachyonychia congenita (PC) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of PC. [loisnatural.com]