Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis.
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Biomedical subjects
Publications and source records attributed to P Berbis.
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BACKGROUND: Superficial pyodermas may require systemic antibiotics. In a previous open-label trial, oxacillin and pristinamycin achieved similar cure rates, but its design was not truly that of a non-inferiority study. OBJECTIVES: To assess the efficacy and safety of oral cloxacillin versus pristinamycin (both 2 g/day) to treat superficial pyodermas. METHODS: Multicentre, parallel-group, open-label, randomized non-inferiority trial. RESULTS: French general practitioners in private practice included 334 out-patients (mean age: 42 years). At the follow-up (day 14), the cure rates (primary efficacy end point) for the intent-to-treat populations were 80.7% (138/171) for cloxacillin and 82.8% (135/163) for pristinamycin. The observed difference between cure rates was -2.1%, with the lower limit of the two-sided 95% confidence interval higher than the non-inferiority threshold of -15%. The per-protocol analysis yielded similar results. Therapy was discontinued for 10 patients (cloxacillin: 1, pristinamycin: 9; p = 0.01). CONCLUSION: Cloxacillin could be an alternative to pristinamycin in out-patients with superficial pyodermas.
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The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering since birth from a nonpruritic generalized urticaria, with inflammatory flares, joint manifestations and progressive deafness requiring a bilateral hearing aid. An initial diagnosis of Muckle-Wells syndrome was made. However, the patient had an unusual clinical presentation with slightly dysmorphic facial appearance, clubbing of the fingers, mild mental retardation and papilledema. After a genetic advice, a diagnosis of CINCA syndrome was made. Search for mutations in the CIAS1 gene revealed a new mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.
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AIM OF THE STUDY: To analyze the epidemiological characteristics of Raynaud's syndrome in childhood. PATIENTS AND METHODS: We conducted a nine-year-retrospective survey of children up to 17 y seen with Raynaud's syndrome. Charts were retrieved from pediatrics and dermatology outpatient units, and from the registry of capillaroscopy. A specific questionnaire was designed and missing data were completed after a phone interview of the parents. RESULTS: A definite diagnosis of Raynaud's syndrome was ascertained in 23 patients with marked female predominance (SR = 0.27). Triggering factors were essentially a cold environment and emotions. The mean age at the diagnosis was 11 y (5 to 16 y) with an onset after ten years in 65% of cases. Eleven of these Raynaud's syndromes were secondary with ten connectivitis, eight remained essential and four were suspected to be secondary. DISCUSSION: This series of pediatric Raynaud's syndromes was important according to scarcity of literature on this topic. The diagnosis is made upon exclusive clinical basis and we underline the high frequency of serious underlying conditions. Further etiologic investigations are mandatory for any pediatric patient with Raynaud's syndrome. The sensitivity (78%) and specificity (80%) of capillaroscopy were of interest in our patients; its prognosis value needs to be evaluated in a larger group of patients.
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Keratitis, ichthyosis and deafness are the dominant signs of KID syndrome. The lesions involving cornea, epidermis and internal ear are probably the result of a congenital ectodermal abnormality. Associated signs such as increased sensitivity to infections, and dermoskeleton dystrophies are also useful for the diagnosis. There are no specific biological signs. Most cases are sporadic but familial cases have been described with unclear mode of inheritance. Treatment is disappointing. Thus management mainly relies upon early detection of complications.
We report an unusual case of Cushing's syndrome manifested by anxiety over body image in a 26-year-old nurse. Initial presentation was a 'dermatological non-disease'. Clinical signs became increasingly evident during the course of the disease, justifying an adrenal gland evaluation which showed a secreting adrenocortical adenoma. Surgical treatment led to recovery with return to normal appearance and cessation of her aesthetic complaints. Our observation shows that persistent aesthetic complaints may sometimes reveal early hypercorticism.
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INTRODUCTION: Headache opposite to a blue nevus of the scalp can reveal intra cranial melanotic lesions. CASE REPORT: A 25-year-old man caucasian was admitted to hospital for a first generalized tonic-clonic seizure. For six months, he has had episodic frontal-temporal right headache opposite to a blue pigmentary cutaneous congenital lesion in frontal territory (histology confirmed benign blue nevus). Neurologic examination noted a right congenital hereditary ophtalmoplegia. Cerebral MRI showed a right rolandic tumor with diffuse leptomeninge infiltration. This patient was operated of a meningeal melanocytoma with leptomeninges melanosis. DISCUSSION: The apparition of headache related to a blue nevus must lead to realize a cerebral MRI to look for a neuroectodermic hamartoma: melanotic tumor (in particular melanoma), or leptomeninges melanosis with high potential of degeneration. Meningeal melanocytoma is a rare benign spinal or intra cranial melanotic tumor.