[Maffucci syndrome and extensive verrucous epidermal nevi in the same leg]. / Syndrome de Maffucci et hamartome épidermique étendu sur le même membre.

BACKGROUND: Maffucci syndrome is a rare disorder characterized by multiple enchondromas associated with soft tissue haemangioma. We report a case of Maffucci syndrome associated with epidermal verrucous nevus. CASE REPORT: A 33-year-old woman, with no previous history of note, had presented multiple episodes of vascular tumefaction of the toes and verrucous lesions of the right lower limb since childhood. Clinical examination revealed multiple pain-free and round haemangiomas on the toes; some were hard and evocative of chondromas while others were soft and suggested angiomas. In addition, there was an epidermal verrucous nevus of the right lower limb. Skeletal examination revealed multiple phalangeal enchondromas. A diagnosis of Maffucci syndrome associated with epidermal verrucous nevus was made. DISCUSSION: Maffucci syndrome is a rare form of sporadic dysplasia characterized by superficial haemangiomas and cartilaginous tumours (enchondromas), with just over one hundred published cases to date. Localization in the bones of the hands is seen in 89% of cases, in contrast with our observation. While epidermal verrucous nevus may be associated with neurological or osseous anomalies, to our knowledge, association of epidermal verrucous nevus with Maffucci syndrome has not previously been described; the present association could of course be fortuitous.

[Pseudoxanthoma elasticum and nephrocalcinosis]. / Pseudoxanthome élastique et néphrocalcinose.

INTRODUCTION: Pseudoxanthoma elasticum (PXE) is a hereditary disease that presents clinically as cutaneous, ocular and cardiovascular problems. The associated clinical signs are due to calcification of elastic fibres and blood vessels. The case we describe below involves a 24 year-old woman hospitalised for pseudoxanthoma elasticum and also diagnosed with asymptomatic renal nephrocalcinosis. OBSERVATION: A diagnosis of pseudoxanthoma elasticum was suspected in this patient based upon yellowish papules on the head and neckline together with angioid streaks. This diagnosis was confirmed by histological examination of the skin biopsy sample. Levels of calcium and phosphorus in blood and urine were normal, as were the cardiovascular test results. Abdominal ultrasound revealed bilateral nephrocalcinosis. DISCUSSION: This case is original in terms of the association of pseudoxanthoma elasticum with nephrocalcinosis. There are in fact increasing reports of diffuse visceral calcifications in pseudoxanthoma elasticum and the literature contains reports of association with mammary and testicular calcifications. To our knowledge, associated nephrocalcinosis has only been described in two subjects in a series of 11 PXE patients. The question is whether this association was entirely fortuitous or if it in fact constitutes a rare manifestation of the disease.

[Ten cases of Verneuil's disease]. / La maladie de Verneuil: dix cas.

INTRODUCTION: Verneuil's disease is a chronic inflammatory, suppurating and fistulizing disease. It is often misdiagnosed and taken for another pathology. The aim of this study was to describe the epidemiological, clinical, and therapeutic features of 10 patients presenting with this disease, in our dermatology unit. PATIENTS AND METHODS: We retrospectively analyzed 10 observations of Verneuil's disease from 1994 to 2005. We studied the clinical, epidemiological, and therapeutic characteristics. RESULTS: Nine male and one female patients were included. The mean age was 35 years. The mean delay between onset of symptoms and diagnosis was 6 years. All patients presented with a severe form of the disease. The localizations were the buttocks in 4 cases, the pubis in one case, and the axilla in another case. Four patients also presented with buttock and anoperineal lesions. The medical treatment was antiseptics, antibiotic therapy, or isotretinoin. All patients were treated surgically. CONCLUSION: A suppurated and fistulized nodule on an anoperineal or axillary location must suggest this disease. Our series is characterized by the prevalence of men and the frequency of severe forms.

[Not Available]. / Brulures Profondes des Membres Apres Intoxication au Co Par Usage du Barbecue Traditionnel en Salle de Bain.

En l'absence des moyens de chauffage moderne à domicile chez une proportion non négligeable des Marocains, le recours au moyen traditionnel est fréquent. A travers six observations de brûlures profondes des membres, particulières par leur mode de survenue et par leur gravité, les Auteurs attirent l'attention sur le danger de l'utilisation du barbecue traditionnel «majmer¼ pour réchauffement en milieu clos.

Characterization of the thymidine kinase of Physarum polycephalum.

Thymidine kinase [ATP: thymidine 5'-phosphotransferase, EC 2.7.1.21] has been purified more than 3,500 fold from microplasmodia of Physarum polycephalum. Properties of the enzyme were determined on preparations purified 1,400 fold. Thymidine was transformed to dTMP while a stoichiometric quantity of ATP was transformed to ADP. 5-Iododeoxyuridine, 5-bromodeoxyuridine, and 5-fluorodeoxyuridine acted as competitive inhibitors for the thymidine substrate while 5-bromodeoxyuridine could be used as a substrate. In contrast uridine did not inhibit the enzymatic activity while deoxyuridine was a very poor competitive inhibitor in agreement with the observation that deoxyuridine could not be used as a substrate. Two apparent Michaelis constants were found for thymidine. Only the highest Michaelis constant could be decreased in the presence of increasing concentrations of ATP. Among the various nucleoside mono, di, or triphosphates studied only ATP and to a less extent dATP could be used as phosphate donors. A non competitive inhibition for thymidine was observed with dTTP. dTMP, dTDP, and dTTP acted as competitive inhibitors for ATP. None of the nucleoside mono, di, or triphosphates studied showed an activatory effect at low concentrations of ATP, even in the presence of dTTP. However, dUTP and dGDP acted as competitive inhibitors for ATP.

Regulation of thymidine kinase synthesis during the cell cycle of Physarum polycephalum: the effects of two microtubule inhibitors.

Methyl benzimidazole carbamate and griseofulvin are two microtubule inhibitors which perturb plasmodial mitosis in Physarum polycephalum. These two compounds perturb not only the mitotic process leading to abortive mitosis but delay the onset of mitosis. Both drugs delayed the onset of thymidine kinase synthesis (EC 2.7.1.21, ATP: thymidine 5'phosphotransferase) which occurred concomitantly with mitosis. Thus, thymidine kinase synthesis, a cell cycle event which is not thought to have any relationship with the microtubular system, was perturbed in the same way as mitosis in the presence of two chemically unrelated microtubule inhibitors. It is suggested that the microtubular system is an essential part of a regulatory pathway of the cell cycle which plays a role in at least two events of the cell cycle: the onset of thymidine kinase synthesis, and the onset of mitosis.