[Muir-Torre syndrome associated with Waldenstrom's macroglobulinemia]. / Syndrome de Muir-Torre chez un patient atteint de maladie de Waldenström.

BACKGROUND: Muir-Torre syndrome (MTS), a cutaneous variant of Lynch syndrome, consists of hereditary predisposition to cutaneous tumours and gastrointestinal and gynaecological neoplasms, with autosomal dominant transmission. It is associated with mutations in genes coding for proteins in the DNA mismatch repair system. PATIENTS AND METHODS: Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). The clinical phenotype was consistent with MTS. Somatic analysis carried out on one sebaceous tumour showed instability of the microsatellites with loss of expression of MSH2 and MSH6 although constitutional genetic analysis showed no germline mutations known to be harmful. DISCUSSION: This noteworthy case raises a number of questions, including the possibility of association between STM and Waldenstrom's macroglobulinemia, which is discussed herein.

[Atypical scleromyxedema with a granulomatous histological pattern and delayed sclerosis]. / Scléromyxœdème atypique, avec aspect histologique granulomateux et apparition retardée de la sclérose.

BACKGROUND: Papular mucinosis is characterised by primary mucin deposition in the dermis. The classification distinguishes between the localised form and the systemic form, which alone can result in complications, but this classification occasionally proves to be inadequate. Herein we report the progression of papular mucinosis, initially atypical due to the absence of cutaneous sclerosis and of misleading granulomatous histological features, which subsequently developed into characteristic scleromyxedema. PATIENTS AND METHODS: A 55-year-old male developed a rash comprising countless acral papules. Several biopsies were necessary before a diagnosis of papular mucinosis was made, due to the initial granulomatous appearance at histology. Tests showed monoclonal immunoglobulin of indeterminate significance, but, due to the absence of cutaneous sclerosis, we were able to conclude on typical localised papular mucinosis. Two years later, extensive sclerotic induration of the skin appeared and the diagnosis was modified to one of scleromyxedema. Treatment with intravenous immunoglobulins was given and proved efficacious, but relapse occurred on discontinuation of the therapy. DISCUSSION: Papular mucinosis is a rare disease of unknown physiopathology. The disease classification distinguishes between the localised and systemic forms, but it occasionally proves to be inadequate. Our case suggests a continuum between the localised and systemic forms of the disease. Further, the initial biopsies of acral papules in our patient had a misleading granulomatous appearance, as has been reported numerous times for the systemic forms. This granulomatous histological variant thus appears to constitute a diagnostic criterion for scleromyxedema.

[Severe edematous dermatomyositis]. / Dermatomyosite œdémateuse sévère.

INTRODUCTION: Edematous dermatomyositis is a rare entity with localized or generalized subcutaneous edema and only 21 cases have been reported in the literature. It is considered to be a severe form of dermatomyositis which needs quick therapeutic decision. We report 2 cases with difficult therapeutic decisions. OBSERVATIONS: Two patients aged 23 and 80 years were admitted in hospital for DM with typical cutaneous and muscular involvement without any sign of gravity and which have been treated by steroids: methylprednisolone bolus and prednisone. They both then developed severe edema of the upper limbs as well as worsening of the cutaneous and muscular symptoms with dysphagia. The addition of mycophenolate mofetil and intravenous immunoglobulin has permitted in the case of the first patient the disappearance of the cutaneous symptoms in particular the edema with restitution of the muscular force and withdrawal of the dysphagia and swallowing symptoms. The therapeutic failure for the second patient was due to a refusal of the treatment and a probable paraneoplastic context. CONCLUSION: Subcutaneous edema localized or generalized must not be confused with periorbital erythematous edema, classically observed in DM, nor with DM with mucinosis. Potential marker of gravity, it is often associated to important muscular weakness and dysphagia. In this case, an aggressive treatment associating corticosteroids, immunosuppressive therapy and intravenous immunoglobulin is necessary.

[Localized salt-dependent aquagenic urticaria: A case report]. / Urticaire aquagénique localisée à l'eau de mer.

BACKGROUND: Aquagenic urticaria is a rare but well-known form of physical urticaria mainly affecting young women. It is characterised by the appearance of erythematous and pruritic plaques a few minutes after initial contact with water and irrespective of temperature. The physiopathology of this condition remains poorly understood. Herein, we report a case of localised aquagenic urticaria occurring solely on contact with seawater. PATIENTS AND METHODS: A 32-year-old woman reported onset of erythematous and pruritic plaques, confined to the neck and lower part of the face, several minutes after the start of bathing in seawater. Skin tests were carried out by applying wet compresses soaked in seawater (37°C for 30 min) to the areas in which the skin reaction usually occurred. A control test using a compress soaked in fresh water was carried out under identical conditions. An urticaria reaction was noted in the areas in contact with seawater, but no reaction was seen in the areas coming into contact with fresh water. Antihistamines taken on the days of bathing proved ineffective. DISCUSSION: A number of similar cases have been reported in the literature, enabling the characterisation of this particular form of aquagenic urticaria and allowing its principal characteristics to be defined. It appears to be dependent solely on the salt content of the water. It is reported by young women while bathing in seawater. The urticaria plaques show a predilection for the neck and lower part of the face, as in our case, as well as the shoulders on occasion. The efficacy of antihistamines is inconsistent. The prevalence of this as yet poorly known entity is doubtless underreported.

[Chondrodermatitis nodularis chronica helicis: a descriptive study of 99 patients]. / Nodule douloureux de l'oreille : étude descriptive de 99 cas.

BACKGROUND: Painful nodule of the ear was described at the start of the 20th century as a form of chronic chondrodermatitis nodularis helicis (CNH). It comprises a painful erythematous papule or nodule appearing on the ear and adhering to cartilage, and which may or may not have a central scab. The aim of this study was to describe the clinical characteristics of CNH as well as the population currently affected by such lesions, and to identify predisposing factors. The secondary aim was to describe treatments commonly used in private dermatological practice and to examine their efficacy. MATERIALS AND METHODS: Questionnaires were sent out to private dermatologists belonging to the Association d'information post-universitaire en dermato-vénérologie de Strasbourg [Association for post-university information in dermatology-venerology] in Strasbourg. Patients were included in the study if they consulted for CNH, clinically diagnosed as such by the dermatologist. The questionnaire was used to analyze the age, gender and phototype of patients, as well as pain assessed on a numeric scale, duration, site, supposed trigger factors, treatment and outcome after treatment. RESULTS: A total of 99 patients was included by 27 dermatologists between March 2010 and October 2011, mainly men (sex-ratio: 1.6). The mean age was 65 years. Patients had no significant previous history. Pain was moderate in 23 patients, severe in 59 and unbearable in 14; in most patients it was brought on by provocation (78 patients). The right ear was affected in 48 patients and the left ear in 39. CNH had been present for a mean 14 months. The most common site was the upper/horizontal section and the angle of the helix of the ear (62 patients). Exposure to sunlight or to cold were the predisposing factors most frequently mentioned (56 patients). Medical treatment was given for 52 patients, and resulted in cure of almost half of this population. Surgery was performed in 34 patients, with only one case of relapse. DISCUSSION: Our study shows that the current population of subjects with CNH is comparable with that described in the literature. New professional and technological apparatus appearing in recent decades (hearing aids, headphones and in-ear headphones, crash helmets) result in continual trauma to the ear and could favour the onset of CNH. The treatment most commonly given by dermatologists is non surgical, which may be effective in certain patients. Analgesic treatment and removal of factors responsible for trauma are also important in management.