Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis.

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Tissue Antigens 2002 Dec;60(6):489-95

Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis.

On screening the AIRE coding sequence, we identified 20 variants. Two of these at positions, G961C and T1029C, give rise to amino acid changes, S278R and V301A, located in the DNA-binding segment (SAND) and PHD1 zinc finger motif, respectively. We found no difference in the frequency of the AIRE T1029C polymorphism between the control and patient groups. We genotyped 202 alopecia areata patients and 175 matched Caucasian controls for the AIRE G961C alleles. The frequency of the rare allele (961G) was 0.08 in the controls and there was a significant increase to 0.13 in alopecia areata overall and 0.20 in severe disease (alopecia universalis). We found no association between the AIRE G961G variant and mild (patchy) alopecia areata or alopecia totalis. However, the AIRE 961G allele is a potent risk factor (> 3) for the severest form of alopecia areata, and for disease of early age at onset (at 30 years). The change from serine to arginine in the SAND domain of AIRE protein may have a significant effect on AIRE DNA-binding activity. Moreover, our results could provide a rational explanation of the unusually high frequency of AA in APECED patients, supporting the concept of AA as an autoimmune disease.

Pediatr Dermatol 2002 Jul-Aug;19(4):298-301

A clinical study of childhood alopecia areata in Singapore.

Alopecia areata (AA) is a common cause of nonscarring alopecia. The aim of this epidemiologic study is to review the clinical characteristics and treatment of childhood alopecia areata in a mixed ethnic population. The study population consisted of a total of 392 children seen over a 4-year period with AA diagnosed before the age of 16 years. The female:male ratio was 1:1.4. There were 309 Chinese (78.8%), 51 Malays (13.0%), and 32 Indians (8.2%). The mean age at the time of diagnosis was 11.2 years. The majority of patients (71.7%) had alopecia of less than 6-months duration and 6% had previous episodes of AA. Females appeared to have more severe involvement. A familial history of AA was observed in 33 patients (8.4%). Associated atopy was found in 26.6% of patients and in 32.3% of their first-degree relatives. Other associations such as vitiligo or Down syndrome were rare. For limited AA, topical and/or intralesional corticosteroid was the first-line treatment used and squaric acid dibutyl ester was the choice of treatment for patients with extensive involvement. The profile of the poor respondents to therapy included young age of onset, past history of AA, Down syndrome, and extensive involvement.

Ther Umsch 2002 May;59(5):211-6

Androgenetic alopecia in the man

Androgenetic alopecia (AGA) occurs in approximately 40% of men at the age of 40 and 50% at 50, respectively. Especially for young men progressive hair loss can be distressing. Therefore, understanding of these patients' concerns is important for appropriate management. Current understanding of the pathophysiology of AGA mainly focuses on androgen metabolism as it affects hair growth. As a result, pharmacologic treatment has made considerable progress through the introduction of selective 5 alpha-reductase inhibition with finasteride. In placebo-controlled clinical trials in men with AGA, treatment with oral finasteride proved to be effective. Minoxidil is the only pharmacological substance for topical application with proven efficacy. So far, other treatment modalities have no proven efficacy in clinical trials, so that their use cannot be recommended. Options for advanced AGA not amenable to pharmacologic treatment are autologous hair transplantation and hair replacement, both of which have recently also made progress in terms of cosmetic appeal.

Ann Dermatol Venereol. 2003 Mar;130(3):326-30.

Intravenous pulse methylprednisolone therapy for severe alopecia areata: an open study of 66 patients

INTRODUCTION: Treatment of alopecia areata is a difficult challenge. Some European publications have shown encouraging results with high dose pulse corticosteroid therapy in extensive plurifocal alopecia areata. We undertook a prospective open study between January 2000 and December 2001 using repeated pulse each month, with the aim of identifying the effects of this repetition and underlining the best indications. PATIENTS AND METHODS: Sixty-six patients aged 9 to 60 years old presenting an extensive alopecia areata exceeding 30% of the scalp surface (n=47), alopecia totalis (n=8), alopecia universalis (n=8), ophiasic alopecia (n=3), for less than 12 months entered this study. The administered treatment was methylprednisolone 500 mg/d during 3 days or 5 mg/kg twice per day during 3 days in children. These pulses were repeated after 4 and 8 weeks, then a second series was carried out or not according to cases. The main evaluation criterion was the percentage of new terminal hair appearing on the bald areas, appreciated by clinical and photographic evaluation at 3 and 6 months. RESULTS: Ophiasic alopecia areata did not respond to treatment. A quarter of patients presenting universal alopecia had a good response (higher than 80 p. 100) followed by a relapse in half the cases. Half of the patients presenting alopecia totalis had a good response, which was maintained three times out of four. Multifocal alopecia areata seems the best indication since the patients under study presented a good response in 63.8 p. 100 of cases (78 p. 100 when it was a first episode and 90.5 p. 100 if the treatment had been started in less than 3 months before). The repetition of the pulses did not appear to increase the number of responders. CONCLUSION: This study provides the best indication of pulse methylprednisolone therapy: first recent episode of extensive plurifocal alopecia areata. These results are less convincing in long term history or other forms of alopecia areata.

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