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      Chronic mucocutaneous candidiasis with endocrinopathy – case report

      case-report

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          Abstract

          Chronic mucocutaneous candidiasis (CMC) is characterized by Candida infection of the mucous membrane, scalp, skin and nails. We present a case of a 42-year-old man who was treated twice in the Dermatological Department. He was admitted the first time as a 7-year-old boy because of skin and mucosal lesions and then the diagnosis of granuloma candidamyceticum was established. Thirty-one years later he was admitted again with a history of facial skin lesions and blepharitis. For a couple of years he had suffered from diabetes and hypothyroidism. The diagnosis of CMC with endocrinopathy was established in our patient.

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          Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

          Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED; OMIM 240300) is a rare autosomal recessive disorder defined by a variable combination of endocrine failure, chronic mucocutaneous candidiasis (CMC), and dystrophy of the dental enamel and nails. APECED is caused by mutations in the autoimmune regulator gene (AIRE). Alopecia areata (AA) and vitiligo are diseases with autoimmune pathogeneses, and have been recognized as part of the APECED complex. There are rare reports of other cutaneous manifestations. We sought to delineate the dermatological features of APECED in an Irish case series with emphasis on timing of their appearance and association with disease severity. Furthermore, we looked for evidence of genotype: phenotype correlation. Finally, we wanted to determine if the ectodermal changes described represent a primary ectodermal dysplasia or whether the ectodermal manifestations are secondary phenomena. Irish patients with APECED were invited to attend a multidisciplinary clinic (Dermatology, Endocrinology, Dentistry and Ophthalmology) held in Our Lady's Hospital for Sick Children, Dublin. Clinical data were compiled from case notes and questionnaires. All patients had a detailed cutaneous examination. Blood samples were obtained for mutational analysis. Eighteen patients (seven males and 11 females) from 15 families were interviewed and examined. The mean age at diagnosis was 6 years (range 8 months-18 years). All patients had evidence of CMC, 13 (72%) had candidal onychomycosis or paronychia, six (33%) had AA and two had vitiligo. In the case of two patients the diagnosis was made on recognition of dermatological manifestations and confirmed by mutational analysis. Both patients developed Addison's disease on follow-up. CMC was an early feature, often predating diagnosis (10 of 18). AA and vitiligo presented later, and may reflect more severe disease in these cases. There was no correlation between the AIRE mutations identified on mutational analysis and the clinical presentation. We found no evidence of an isolated nail dystrophy or features consistent with a primary ectodermal dysplasia. APECED is a rare but complex and potentially life-threatening autoimmune disease. CMC is a common and early feature; diagnosis at this stage may pre-empt life-threatening endocrinological crises. It is important for dermatologists to be aware of this association as they are likely to be the earliest clinicians who encounter these children. AA and vitiligo in our series occurred in the setting of established disease. The term "ectodermal dystrophy" is misleading as the ectodermal features described in our series and in the literature are most likely to be secondary phenomena.
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            Chronic mucocutaneous candidiasis.

            Chronic mucocutaneous candidiasis is a complex disorder in which patients have chronic and recurrent Candida albicans infections of the skin, nails, and mucous membranes. There are several subgroups of patients with chronic mucocutaneous candidiasis, and these can be identified by associated disorders such as autoimmune diseases, endocrinopathies, thymoma, and interstitial keratitis, as well as the distribution and severity of the Candida infections. Several other disorders may coexist in patients with chronic mucocutaneous candidiasis. These include other infectious diseases, endocrinopathies, dental enamel dysplasia, vitiligo, and alopecia totalis. Successful treatment programs should include antifungal drugs and manipulations that correct the immunologic abnormalities that predispose the patient to Candida infections.
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              Characterization of the cellular immune function of patients with chronic mucocutaneous candidiasis.

              Chronic mucocutaneous candidiasis (CMC) is a rare syndrome characterized by persistent and refractory infections of the skin, nails and mucosal tissues by yeasts of the genus Candida. Defects in the cellular limb of the immune system are well documented in CMC patients, but non-specific immune defects, such as myeloperoxidase deficiency or phagocyte chemotaxis disorders, have also been described. Nonetheless, the underlying defect(s) remains poorly understood, and further studies are required. We studied eight CMC patients without endocrinopathies, who showed (i) low normal proliferative response to phytohaemagglutinin (PHA), (ii) partially defective response to pokeweed mitogen (PWM), and (iii) impaired response to Candida and PPD antigens. Furthermore, peripheral blood mononuclear cells (PBMC) from CMC patients produced lower levels of type-1 cytokines (IL-2 and interferon-gamma) in response to Candida antigens, compared with control individuals. Conversely, we did not observe an enhancement of IL-4 and IL-10 in the patients, suggesting that, even though Th1 cytokines are decreased, the Th2 response is not increased in CMC. Nevertheless, the synthesis of these cytokines was normal when induced by PHA. We also observed an increased antigen-induced apoptosis in lymphocytes from the patients compared with controls, and this applied both to Candida and PPD antigens. Lastly, innate immunity defects were investigated. We observed an impairment of natural killer activity against K-562 target cells in half of the studied patients. These findings corroborate the extensive clinical and laboratory variability of CMC, which requires further studies on a larger number of patients to be better understood.
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                Author and article information

                Journal
                Arch Med Sci
                AMS
                Archives of Medical Science : AMS
                Termedia Publishing House
                1734-1922
                1896-9151
                30 June 2010
                30 June 2010
                : 6
                : 3
                : 464-467
                Affiliations
                [1 ]Department of Dermatology and Venereology, Medical University of Lodz, Poland
                [2 ]Laboratory of Immunodermatology, Department of Dermatology, Medical University of Lodz, Poland
                Author notes
                Corresponding author: Dr Aleksandra Lesiak, Department of Dermatology, Medical University of Lodz, Krzemieniecka 5, 94-017 Lodz, Poland, Phone/fax: +48 42 686 79 81/ +48 42 688 45 65. E-mail: lesiak_ola@ 123456interia.pl
                Article
                14993
                10.5114/aoms.2010.14273
                3282528
                22371787
                29b6b8e1-21dd-43ac-ac26-47b78cc4045c
                Copyright © 2010 Termedia & Banach

                This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial 3.0 Unported License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 15 February 2009
                : 15 March 2009
                : 24 April 2009
                Categories
                Case Report

                Medicine
                chronic mucocutaneous candidiasis,hypothyroidism,candida albicans,endocrinopathy
                Medicine
                chronic mucocutaneous candidiasis, hypothyroidism, candida albicans, endocrinopathy

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