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      Pachyonychia congenita: A rare genodermatosis

      case-report

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          Abstract

          Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. 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. Paring of the nails was done too reduce the thickness of nails & to provide symptomatic relief. She was on a regular treatment for 3-4 months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity.

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          Mendelian Inheritance in Man

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            Autosomal recessive pachyonychia congenita.

            We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed.
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              Mendelian inheritance in man

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                Author and article information

                Journal
                Indian Dermatol Online J
                Indian Dermatol Online J
                IDOJ
                Indian Dermatology Online Journal
                Medknow Publications & Media Pvt Ltd (India )
                2229-5178
                2249-5673
                Jul-Sep 2013
                : 4
                : 3
                : 225-227
                Affiliations
                [1]Department of Skin and STD, Mahatma Gandhi Medical College, Jaipur, Rajasthan, India
                Author notes
                Address for correspondence: Dr. Puneet Agarwal, 397, Shree Gopal Nagar, Gopalpura Bypass, Jaipur – 302 018, Rajasthan, India. E-mail: dr.puneet09@ 123456gmail.com
                Article
                IDOJ-4-225
                10.4103/2229-5178.115527
                3752484
                23984242
                5c4fcc82-25a1-4222-af2e-0d5a83bcefb9
                Copyright: © Indian Dermatology Online Journal

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Categories
                Case Report

                Dermatology
                nail hypertrophy,oral leukoplakia,palmoplantar keratoderma
                Dermatology
                nail hypertrophy, oral leukoplakia, palmoplantar keratoderma

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