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]

• Nail Abnormality

  Descriptor Portuguese: Unhas Malformadas Descriptor French: Ongles malformés Entry term(s): Abnormal Nail Abnormal Nails Abnormalities, Nail Abnormality, Nail Malformed Nail Malformed Nails Nail Abnormalities Nail Abnormality Nail, Abnormal Nail, Malformed [decs.bvsalud.org]

  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]

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]

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

The patient may be informed that at present, no effective treatment is available; however, gene therapy treatment may become available in the future. [emedicine.medscape.com]

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]

The child was given large doses of nystatin and fungicides by his primary care physician for presumed nail candidiasis, but the treatment failed. There was no similar nail and skin changes in any other family member in 2 generations. [journals.lww.com]

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

Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology [decs.bvsalud.org]

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]

Allowable Qualifiers: BL blood CF cerebrospinal fluid CI chemically induced CL classification CN congenital CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology [decs.bvsalud.org]

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]

Epidemiology Frequency Although the exact frequency of pachyonychia congenita is unknown, it appears to be rare. [emedicine.medscape.com]

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]

Pathophysiology Keratins are key structural proteins that form the cytoskeleton of epithelial cells. They are classified based on their biochemical properties into either type I (K9-K28, K31-K40) or type II keratins (K1-K8, K71-K86). [emedicine.medscape.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]

[…] diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention [decs.bvsalud.org]