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      A Case of Ichthyosis Hystrix: Unusual Manifestation of This Rare Disease

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          Abstract

          Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological deficit. It is a rare autosomal dominant form of ichthyosis and very few cases are reported in literature. We are presenting a 46 years-old-male patient of ichthyosis hystrix with unusual presentation. He had lesions mainly over the face and scalp with palmoplantar keratoderma and significant nail changes.

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          Most cited references12

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          A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.

          Keratin gene mutations affecting nonhelical head and tail domains are not usually associated with prominent skin blistering and keratin filament clumping. Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). We have studied a family with severe, diffuse, nonepidermolytic PPK and verrucous hyperkeratotic plaques over the joints and in flexures and identified a new KRT1 gene mutation that is predicted to completely alter the K1 tail domain. In addition, a new K1 size polymorphism has been detected, which is especially prevalent among the African-American population. These results further emphasize the functional importance of the nonhelical tail domain in keratin molecules despite the obvious variability in the number of glycine loop motifs and underscore the broad phenotypic spectrum of disorders due to dominant keratin tail mutations.
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            Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1.

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              Ichthyosis hystrix (Curth-Macklin). Light and electron microscopic studies performed before and after etretinate treatment.

              Clinical and light and electron microscopic observations of a 16-year-old male patient suffering from ichthyosis hystrix (Curth-Macklin) are presented. The patient had no family history for this disease. The diagnosis was based on the distinct electron microscopic finding of continuous perinuclear tonofibril shells in the keratinocytes. About 10% of the keratinocytes were binucleate and one third contained conspicuous vacuoles. The steroid sulphatase activity in a skin biopsy was normal. Etretinate treatment proved beneficial during the first year of therapy. Later the treatment was less effective. The basic genetic defect persisted in the phenotype of the keratinocytes during etretinate therapy, but the exceedingly thick horny layer was considerably thinned.
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                Author and article information

                Journal
                Indian J Dermatol
                Indian J Dermatol
                IJD
                Indian Journal of Dermatology
                Medknow Publications & Media Pvt Ltd (India )
                0019-5154
                1998-3611
                Jan-Feb 2014
                : 59
                : 1
                : 82-84
                Affiliations
                [1] From the Departments of Dermatology, Institute of Post Graduate Medical Education Research, Kolkata, India
                Author notes
                Address for correspondence: Dr. Projna Biswas, Department of Dermatology, Institute of Post Graduate Medical Education Research, and Seth Suklal Karnani Memorial Hospital, Kolkata, India. E-mail: drprojna@ 123456gmail.com
                Article
                IJD-59-82
                10.4103/0019-5154.123512
                3884936
                24470668
                bfdadddf-bd43-467c-8d08-c31117d8f84f
                Copyright: © Indian Journal of Dermatology

                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
                : November 2012
                : February 2013
                Categories
                Case Report

                Dermatology
                ichthyosis,onychogryphosis,porcupine
                Dermatology
                ichthyosis, onychogryphosis, porcupine

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