Here, we report three novel heterozygous mutations in the K17 gene (KRT17A) in patients presenting with pachyonychia congenita type 2. [ncbi.nlm.nih.gov]

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

• Nail Abnormality

  Children with nail abnormalities may find classmates avoiding them in games which require holding hands or touching. [socialstyrelsen.se]

• 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]

  hair And another 6 symptoms. [mendelian.co]

• Sparse to No Eyebrows

  […] developmental, 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 [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]

• Sparse Eyebrows

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

• 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• Withdrawn

  […] symbols: PCHC1 ) Mouse Orthologs Krt17 (Withdrawn symbols: Krt1-17 ) Source OMIM:167210 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene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]

Treatment Self treatment : Most simple boils can be treated at home. Ideally, the treatment should begin as soon as a boil is noticed. Early treatment may prevent later complications. [ehardts.com]

Treatment with topical keratolytic agents or retinoids may offer temporary relief, while oral retinoids are prescribed for more severe cases. Nail involvement requires treatment with emollients, grinding of the nail plate and occasionally ablation. [analesdepediatria.org]

[…] 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.es]

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 [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]

Early detection and possibly treatment of the laryngeal lesions can prevent obstruction of the airway. Given the unpredictable evolution of laryngeal involvement, patient follow-up is essential. References [1] F.J.D. Smith, C.D. Hansen, P.R. [elsevier.es]

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. [nutritionhouse.com]