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Biomedical subjects

B Sans

Publications and source records attributed to B Sans.

13 recordsLinked to original sources
PubMed1998

[Atypical manifestations in familial type 1 Waardenburg syndrome].

BACKGROUND: Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). CASE REPORT: We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. DISCUSSION: This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Adult↗
PubMed1995

Acquired localized elastolysis associated with varicose veins.

Localized elastolysis refers to a group of heterogeneous conditions which includes cutis laxa. We report a form of localized and non-inflammatory elastolysis evocative of cutis laxa, localized to the anteromedial aspect of the left thigh and knee, acquired at the age of 8 years and associated with unilateral adjacent venous dilatations appearing at the age of 39 years. Our case is clinically and ultrastructurally compatible with cutis laxa. Localized forms of cutis laxa not preceded by inflammation are exceptional; localization on the leg has never been described. This clinical form of elastolysis calls into question the classification of acquired elastolysis. The adjacent varicose veins also raise the question of the risk of subcutaneous damage in this condition.

Adult↗
PubMed1995

Shave excision and phenol peeling of generalized verrucous epidermal nevus.

BACKGROUND: Generalized verrucous epidermal nevus is a disorder characterized by papulokeratotic and verrucous plaques involving a large area of the skin. This disease has been associated with a number of malformations including osseous, neurological, and ophthalmologic anomalies. OBJECTIVE: To report clinical and histologic features of verrucous epidermal nevus that developed in association with osseous anomalies, and the surgical technique employed. METHODS: Treatment consisted of razor blade shaving using a dermatome, followed by phenol peeling on the pigmented areas of the face. RESULTS: The described procedure resulted in a cure of the verrucous epidermal nevus with good cosmetic outcome. CONCLUSION: Generalized verrucous epidermal nevus can be successfully managed by surgical excision using a razor blade mounted on a dermatome.

Chemexfoliation↗
PubMed1982

Comparative study of terfenadine in allergic skin of patients in France.

The results of a double-blind comparative study of a new antihistamine, alpha-[4-(1,1-dimethylethyl)phenyl]-4-(hydroxydiphenylmethyl)-1- piperidinebutanol (terfenadine, RMI 9918, Triludan, Teldane, resp.), are presented. Carried out on a total of 136 patients, this multicentre investigation had three main objectives: Firstly to evaluate the efficacy of terfenadine in skin allergies; secondly to evaluate its tolerance; and finally, to compare its activity with the activity of clemastine or with placebo. The results obtained with terfenadine are comparable to those obtained with the reference product clemastine and show that terfenadine is similar in efficacy to that expected when antihistamine drugs are used for the treatment of general allergic manifestations of skin. With respect to patient tolerance, the results are in agreement with those of previous studies which have demonstrated that terfenadine is well tolerated and that its sedative effect is negligible.

Adolescent↗
PubMed1982

[Oculo-cutaneous tyrosinase-positive albinism].

In the present work, the authors discuss the participation of prostaglandins in inflammatory reaction due to U. V. light and the consequences of prostaglandins deficiency. A patient of algerian origin was observed: this 60 year old woman, exhibited an albinism thyrosinase positive and tolerated fairly well an exposure to the U. V. light despite her disease. For ten years she has presented face, neck and arms hyperkeratosis, for five years, arm actinic porokeratosis, and for two years back and face carcinomas. M. E. D. is higher than the standard value. The discussion is open on the fact that this M. E. D. rise might result from prostaglandins deficiency (PE E2 F2). Moreover prostaglandins deficiency increases epidermal multiplication and could account for hyperkeratosis and malignant change, especially so as the patient suffers from albinism and lives in a sunny country. The authors, besides, attempts to relate the other symptoms of this patient to the hypothetical deficiency of prostaglandins; absence of the melanosome maturation, delays in cicatrisation and perhaps immunity perturbations.

Aged↗