Halo nevus, rather than vitiligo, is a typical dermatologic finding of Turner's syndrome: Clinical, genetic, and immunogenetic study in 72 patients
ABSTRACT Turner's syndrome (TS) is a genetic disorder caused by numeric and/or structural abnormalities of the X chromosome; it is characterized by short stature, gonadal dysgenesis, and frequently by webbed neck, cubitus valgus, and lymphedema at birth. TS has been associated with several cutaneous abnormalities including an increased frequency of pigmented nevi, but few reports consider nevi in detail. Halo nevus (HN) is clinically defined as a melanocytic nevus surrounded by a halo of depigmentation. Vitiligo, a dermatologic disorder characterized by the presence of depigmented patches on the skin, has been described in the list of cutaneous findings associated with TS. The aim of this study was to determine the prevalence of HN and vitiligo in TS and to evaluate if a correlation between major histocompatibility complex genes, karyotype, autoimmunity, therapies, and the presence of HN exists. Of the 72 patients with TS examined, 13 had HN, a prevalence of 18.05%, which was significantly higher than in our control group (1%; P=.000001). On the contrary, only 2 patients with TS (2.77%, P=not significant) had vitiligo. By comparing the distribution of HLA class I alleles between patients with TS who did (13 of 72) and did not (59 of 72) have HN, we observed a significantly higher frequency of HLA-Cw6 in patients with TS and HN than in those without HN (26.92% vs 6.78%, respectively; P=.0067; odds ratio=5.06). The study of HLA class II genomic polymorphisms showed that the DRB1(*)0701 and DQB1*02 alleles for patients with TS and HN were overrepresented when compared with those without HN (34.61% vs 11.86%, respectively, P=.0078, odds ratio=3.93; and 34.61% vs 19.49%, respectively, P=.1386, odds ratio=2.19). In conclusion, this study is the first to demonstrate an increased prevalence of HN for patients with TS. Furthermore, the data suggest that a HN putative susceptibility gene in TS is located close to the HLA-C locus.
SourceAvailable from: Dominique Marcus-Soekarman[Show abstract] [Hide abstract]
ABSTRACT: In a multidisciplinary outpatient clinic for hereditary skin diseases and/or syndromes involving the skin, 7% (30/409) of patients were found to have an abnormality involving the X chromosome, a mutation in a gene located on the X-chromosome or a clinical diagnosis of an X-linked monogenetic condition. The collaboration of a dermatologist and a clinical geneticist proves to be very valuable in recognizing and diagnosing these conditions. By combining their specific expertise in counselling an individual patient, X-linked diagnoses were recognized and could be confirmed by molecular and/or cytogenetic studies in 24 of 30 cases. Mosaicism plays an important role in many X-linked hereditary skin disorders. From our experience, we extracted clinical clues for specialists working in the field of genetics and/or dermatology for considering X-linked disorders involving the skin.Clinical Genetics 04/2013; 85(4). DOI:10.1111/cge.12162 · 3.65 Impact Factor
Piel 08/2014; DOI:10.1016/j.piel.2014.03.016
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ABSTRACT: It has been known that females with Turner syndrome (TS) have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases. Immunological disturbances have been described in TS: a slight decrease in immunoglobulin serum levels and in circulating T and B cells percentages. This data is not entirely in concordance with some more recent studies. The effects of the immune derangement, found only by some studies, may account for the association of TS with autoimmune disease. In TS there is an increased risk of celiac disease (CD), though the risk is considerably smaller than that for thyroiditis. Some multicenter studies have been performed (Sweden, Canada, Poland, Italy and Germany) and the reported prevalence of CD is 4.2– 6.4% in TS versus 0.35–0.5% in the general population (GP). Apparently the risk is very low before school age. TS subjects with CD do not show particular dysmorphic signs. Only half of the CD subjects had a typical clinical picture and this finding speaks in favour of screening rather than just investigating TS patients with symptoms. In 44% of patients with CD and TS various autoimmune disorders were found vs. the 4.5–14% of CD subjects of the GP. In the subjects whose CD diagnosis was made before 15 years of age the autoimmune pathologies were found in 32% and in 55% in the subjects diagnosed afterward. Conclusions – As a high risk population TS girls and women should be screened for CD – if positive have diagnosis confirmed – according to North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) guidelines, which represent the most up-to-date guidelines. Measurement of tissue transglutami-nase IgA antibodies should begin at age 6 and repeated every 2–5 years. In TS subjects, positive to antibody determination, intestinal endoscopic biopsy was recommended, because in a third of CD subjects vascular alterations in the intestinal mucosa were detected. The screening for CD could be proposed as soon as possible after the diagnosis of TS. CD screening should be performed before the beginning of GH-therapy: to avoid a bad response to treatment, to improve growth and optimize bone mineral density. It has been known that females with TS have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases such as: Hashimoto thy-roiditis, pernicious anemia, Addison disease, celiac disease, inflammatory bowel disease, diabetes, autoimmune hepatitis, autoimmune colitis, thrombocytopenia, and juvenile rheumatoid arthritis [1–9].International Congress Series 10/2006; 1298:42-48. DOI:10.1016/j.ics.2006.07.001