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      Pili Annulati Coincident with Alopecia Areata, Autoimmune Thyroid Disease, and Primary IgA Deficiency: Case Report and Considerations on the Literature

      case-report

      * , ,

      Case Reports in Dermatology

      S. Karger AG

      Pili annulati, Alopecia areata, Molecular changes, Autoimmune disease

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          Abstract

          Pili annulati is a rare autosomal dominant hair disorder clinically characterized by a pattern of alternating bright and dark bands of the hair, the bright bands appearing dark if observed by transmitted light. This pattern is due to the periodic occurrence of air-filled cavities along the hair cortex which scatter and reflect the light while precluding its transmission. A susceptibility region, including a possibly responsible Frizzled gene, has been mapped to the telomeric region of chromosome 12q, although a specific mutation has not been identified. The condition has sometimes been observed in concurrence with alopecia areata, and in this paper we report a case in whom the concomitant severe alopecia areata was associated with autoimmune thyroid disease and primary IgA deficiency – a quadruple complex which, to our knowledge, has never been previously described. The occurrence of multiple immune disorders in the same patient affected by pili annulati could represent a key to understanding the high prevalence of alopecia areata in this condition. Specifically, in individuals predisposed to autoimmune disease, the molecular alterations that cause the anatomical changes of pili annulati could prompt the immune response against the hair root that underlies alopecia areata.

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          Most cited references24

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          Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.

          Alopecia areata (AA) is among the most highly prevalent human autoimmune diseases, leading to disfiguring hair loss due to the collapse of immune privilege of the hair follicle and subsequent autoimmune attack. The genetic basis of AA is largely unknown. We undertook a genome-wide association study (GWAS) in a sample of 1,054 cases and 3,278 controls and identified 139 single nucleotide polymorphisms that are significantly associated with AA (P
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            Comorbidity profiles among patients with alopecia areata: the importance of onset age, a nationwide population-based study.

            Alopecia areata (AA) is considered an autoimmune disease with undetermined pathogenesis. Age at onset predicts distinct outcomes. A nationwide study of the relationship of AA with associated diseases stratified by onset age has rarely been reported. We sought to clarify the role of atopic and autoimmune diseases in AA, thereby better understanding its pathogenesis. A total of 4334 patients with AA were identified from the National Health Insurance Database in Taiwan from 1996 to 2008. A national representative cohort of 784,158 persons served as control subjects. Among patients with AA, there were significant associations with vitiligo, lupus erythematosus, psoriasis, atopic dermatitis, autoimmune thyroid disease, and allergic rhinitis. Different ages at onset resulted in disparate comorbidities. Increased risk of atopic dermatitis (odds ratio [OR] 3.82, 95% confidence interval 2.67-5.45) and lupus erythematosus (OR 9.76, 95% confidence interval 3.05-31.21) were found in childhood AA younger than 10 years. Additional diseases including psoriasis (OR 2.43) and rheumatoid arthritis (OR 2.57) appeared at onset age 11 to 20 years. Most atopic and autoimmune diseases were observed at onset ages of 21 to 60 years. With onset age older than 60 years, thyroid disease (OR 2.52) was highly related to AA. Moreover, patients with AA had higher risk for more coexisting diseases than control subjects. We could not differentiate hypothyroidism from hyperthyroidism. AA is related to various atopic and autoimmune diseases. Different associated diseases in each onset age group of AA can allow clinician to efficiently investigate specific comorbidities. Copyright © 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
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              Profile of 513 patients with alopecia areata: associations of disease subtypes with atopy, autoimmune disease and positive family history.

              Several lines of evidence support a genetic component to alopecia areata (AA), including differences in patients based on severity of AA, associated diseases and family history. We aimed to examine clinical and genetic features of patients with AA with a focus on associated diseases, especially atopy, and family history of AA in the USA. From 1998 to 2001, 513 patients with AA completed interviews consisting of demographic information, patient's medical history, and family history of AA. Forty per cent of respondents had alopecia totalis and/or universalis (AT/AU). These patients were younger at the age of onset than those with patchy AA (P < 0.001), were more likely to have associated autoimmune or atopic disease (P = 0.047), most notably atopic dermatitis (P = 0.021) and thyroid disease (P = 0.012). They also had a greater number of relatives affected by AA (P < 0.05). Our findings show marked associations between severity of AA, atopic dermatitis, thyroid disease and other autoimmune diseases, and extensive family history of AA, suggesting two clinically distinct subtypes of AA with the severe subtype possibly associated with greater familial autoimmunity. Further research exploring the possibility of a genetic basis to explain these clinical findings will be helpful in clarifying our understanding of AA, leading to improvements in diagnosis and treatment.
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                Author and article information

                Journal
                Case Rep Dermatol
                Case Rep Dermatol
                CDE
                Case Reports in Dermatology
                S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH–4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch )
                1662-6567
                Sep-Dec 2012
                14 September 2012
                14 September 2012
                : 4
                : 3
                : 250-255
                Affiliations
                Department of Dermatology, University of Palermo, Palermo, Italy
                Author notes
                *E. Castelli Department of Dermatology, University of Palermo, Via del Vespro 131, IT-90127 Palermo (Italy), E-Mail elena.castelli@ 123456unipa.it
                Article
                cde-0004-0250
                10.1159/000345469
                3531941
                23275769
                fce99377-096b-4726-95d0-30dd7bcb5117
                Copyright © 2012 by S. Karger AG, Basel

                This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License ( http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.

                Page count
                Figures: 3, References: 25, Pages: 6
                Categories
                Published online: November, 2012

                Dermatology

                autoimmune disease, alopecia areata, pili annulati, molecular changes

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