Literature DB >> 27904190

Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

Anupam Das1.   

Abstract

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Year:  2016        PMID: 27904190      PMCID: PMC5122287          DOI: 10.4103/0019-5154.193686

Source DB:  PubMed          Journal:  Indian J Dermatol        ISSN: 0019-5154            Impact factor:   1.494


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Sir, We thank the authors for taking an interest in our recent article.[1] We, in our report, had described a case of an 8-year-old male child with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules, who was diagnosed with pachyonychia congenita Type I.[2] The authors have emphasized the need of genetic and molecular testing for reaching a pinpoint diagnosis, consistent with the features reported by McLean et al.[3] In our case, the diagnosis was done on the basis of clinical findings, histological features, and clinicopathological correlation. We agree on the point that genetic testing should have been done. Otherwise, cases which are actually not pachyonychia congenita and close mimickers such as Clouston syndrome or Plack syndrome may be misreported as pachyonychia congenita. However, it is worth mentioning that in a setting like ours, where most of the patients belong to an extremely poor socioeconomic status, it becomes impossible for us to ask for such investigations. Besides, the lack of infrastructure adds to the miserability. In addition to this, such genodermatoses have poor prognostic outcome and we try our best to provide symptomatic management to the patient and most importantly counseling so as to enable them to lead a better life. Our patient had been prescribed Vitamin A after consultation with the Department of Pediatrics and Ophthalmology and referred to the Department of Physical Medicine and Rehabilitation for weight control exercises. Unfortunately, he is lost to follow-up. We thank the authors for enlightening us regarding Pachyonychia Congenita Project (http://www.pachyonychia.org) so that we are able to proceed for genetic testing in case we find a case with similar clinical findings in future.

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  3 in total

Review 1.  The phenotypic and molecular genetic features of pachyonychia congenita.

Authors:  W H Irwin McLean; C David Hansen; Mark J Eliason; Frances J D Smith
Journal:  J Invest Dermatol       Date:  2011-03-24       Impact factor: 8.551

2.  Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

Authors:  Praveen Kumar Rathore; Varun Khullar; Anupam Das
Journal:  Indian J Dermatol       Date:  2016 Mar-Apr       Impact factor: 1.494

3.  Pachyonychia Congenita: New Classification and Diagnosis.

Authors:  Manoj Kumar Agarwala; Mary E Schwartz; Frances J D Smith
Journal:  Indian J Dermatol       Date:  2016 Sep-Oct       Impact factor: 1.494

  3 in total

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