[One case of type 1 auto-immune polyendocrinopathy or APECED]. / Polyendocrinopathie auto-immune de type 1 ou syndrome APECED.

INTRODUCTION: autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). We report the case of a young girl with APECED. CASE REPORT: an 18 year-old girl born to consanguineous parents consulted for diffuse alopecia. Dermatological examination showed nail and dental enamel dystrophy and angular cheilitis. She had a history of mineralocorticoid deficiency (Addison's disease), hypoparathyroidism, hypogonadism and Biermer's disease, and she had also had chronic mucocutaneous candidiasis since childhood. She was presenting APECED with autoimmune endocrine failure, chronic mucocutaneous candidiasis and abnormalities of ectoderm-derived tissue. Analysis of mutation in the AIRE gene showed the c.769C>T homozygous mutation in exon 6. DISCUSSION: APECED, a rare autosomal recessive disorder, is a potentially life-threatening autoimmune disease. Chronic mucocutaneous candidiasis is a common and early feature in children. Dermatologists are likely to be the first physicians to diagnose this syndrome.

[Biological therapy for psoriasis: practical experience at a French dermatology unit]. / Utilisation des biothérapies dans le psoriasis modéré à sévère : expérience du service de dermatologie du CHU de Besançon (2004-2008).

BACKGROUND: The course of biological therapy (BT) in clinical practice may differ markedly from treatment schedules in clinical trials. Treatment modifications and patient characteristics can affect treatment safety and efficacy. In addition, long-term results concerning the use of BT in clinical practice are lacking. OBJECTIVES: To report our experience of BT in terms of short- and long-term efficacy and safety. PATIENTS AND METHODS: The retrospectively analysed cohort consisted of psoriasis patients receiving BT between 2004 and 2008. Patients in clinical trials were excluded. Mean body surface area (BSA) and Dermatology Life Quality Index were recorded. RESULTS: Fifty-eight patients undergoing 86 courses of BT were enrolled. Thirty-three patients were treated with efalizumab, 21 with infliximab and 32 with etanercept. During the study period, 40% of patients were switched to another BT. The number of patients attaining BSA-75 at 3and 6months respectively was 38% and 75% for efalizumab, 62% and 61% for infliximab, and 36% and 61% for etanercept. After 24months of follow-up, only 33% of patients (34% of patients with efalizumab, 52% with infliximab and 22% with etanercept) were still following their initial BT, with treatment being discontinued in 52% of patients due to adverse events or treatment failure. DISCUSSION: Our study confirms the efficacy and feasibility of BT in clinical practice. However, the high frequency of BT discontinuation for adverse events or non-response led to sequential therapy using different biological treatments.

[Pandalao and skin whitening in Mayotte]. / La dépigmentation volontaire à Mayotte ou le << Pandalao >>

INTRODUCTION: Skin whitening (SW) is very common in dark-skinned populations and the practice is often named after a popular local brand of product and such is the case in Mayotte where this practice is called "pandalao". PATIENTS AND METHODS: We carried out a descriptive epidemiological study in a sample of black Mahoran women aged 15 and over. The survey comprised a questionnaire completed by 163 women between 12 November 2007 and 24 January 2008. The aim of our study was to investigate the practice of SW in Mayotte and to determine its prevalence. RESULTS: Hundred percent of the subjects were aware of SW and 95% knew people practicing this procedure. The prevalence of users of whitening products was 33%, although 74% of these subjects did not use such products on a regular basis and 89% of the women limited application to exposed areas (visible to others). Sixty-three percent simultaneously applied Diproson (betamethasone dipropionate) and Pandalao, the main component of which is salicylic acid. Fifty-four percent of users had presented one or more adverse effects after application of these products and 28% had stopped this practice due to such adverse effects (chiefly acne and dyschromia). DISCUSSION: Although illegal, the trade in skin whitening products continues to grow because it is profitable and takes full advantage of the success of ethnic cosmetics. In Mayotte, as in metropolitan France and Africa, the existence of SW is acknowledged but is still taboo. However, a number of specific characteristics are seen in Mayotte: SW is rarely performed on the whole body, salicylic acid is added to a topical corticosteroid, and the traditional Mahoran mask, the "mzindzano", is still worn for photoprotection.

[Sweet's syndrome and phenylbutazone-induced sialadenitis]. / Syndrome de Sweet et sialadénite à la phénylbutazone.

BACKGROUND: Phenylbutazone frequently induces a range of potentially dangerous adverse reactions. We report a case of Sweet's syndrome with sialadenitis induced by phenylbutazone. CASE-REPORT: A 54-year-old woman presented lumbar pains treated with phenylbutazone for three days. Six days later, she exhibited inflammation of the submaxillary and parotid salivary glands, followed by an erythematous, oedematous, pustular and febrile eruption, with failure of antibiotic therapy. Laboratory data showed leukocytosis and neutrophilia, anaemia, an elevated platelet count and liver dysfunction. The infectious and autoimmune tests were negative. The skin biopsy confirmed Sweet's syndrome. Clinical and biological abnormalities resolved on administration of systemic steroids. DISCUSSION: Phenylbutazone-induced sialadenitis is rare and presents unrecognized adverse effects that may be associated with a systemic reaction. In the present case report, Sweet's syndrome met the criteria for drug-induced Sweet's syndrome. There appears to have been a systemic reaction caused by a hypersensitivity mechanism, in the same way as sialadenitis.

[Chromomycosis in Guadeloupe]. / Chromomycose en Guadeloupe.

BACKGROUND: Chromomycosis is a widespread subcutaneous fungal infection seen essentially in tropical and subtropical regions and transmitted via skin injury caused by the prickles of plants or infected wood splinters. It is prevalent throughout the West Indies including Guadeloupe, where its incidence is not well known. PATIENTS AND METHODS: This retrospective and descriptive study concerns five histologically established cases of chromomycosis in Guadeloupe between 1995 and 2005. The five patients were diagnosed and treated at Pointe-à-Pitre University Teaching Hospital. RESULTS: The study concerned four male patients and one female patient with an average age of 78 years; four were from the Basse-Terre district and one was from the Grande-Terre district. The most frequent clinical aspect was nodular or verrucous. The most common initial topography was the upper limbs. Fonsecaea pedrosoi was the only species identified. Diagnosis was confirmed by histopathology, which in all cases revealed sclerotic cells. Three patients underwent surgical treatment and two received medical treatment; only two patients were cured by 2005. DISCUSSION: Our study confirms the presence of a source of chromomycosis in Guadeloupe, where Fonsecaea pedrosoi is clearly the best adapted species. It also highlights the difficulties of therapeutic care in tropical areas.