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Biomedical subjects

M Larrègue

Publications and source records attributed to M Larrègue.

At least 37 records · Page 2Linked to original sources
PubMed1994

Checks for chromosomal instability in Gorlin and non-Gorlin basal-cell carcinoma patients.

The naevoid basal-cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with multiple basal-cell carcinomas, an increased risk for other neoplasms, and various malformations. Chromosome instability has been implicated in the pathogenesis of this syndrome, but these reports are somewhat contradictory. We have investigated five patients, two with confirmed NBCCS and three suspected. No evidence for chromosome instability was found in lymphocytes at three sample times after stimulation using metaphase aberration analysis, sister-chromatid exchange (SCE) in second division cells, or micronuclei. A significant lengthening of the cell cycle was found for the two confirmed NBCCS patients, but not for the suspected cases.

Adolescent↗
PubMed1994

Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero.

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.

Abnormalities, Drug-Induced↗
PubMed1993

Repeated skin expansion for excision of congenital giant nevi in infancy and childhood.

Three children with giant pigmented nevi were treated by repeated tissue expansion. Five flaps were expanded twice, and one flap was expanded three times. The delay between expansions was 4 to 15 months (mean 9 months). With full inflation, vascularization of the flap remained good. However, every new expansion decreased flap length by 50 percent. Overall results with this technique, especially in two infants with giant pigmented nevi involving respectively 20 and 40 percent of the body surface, have been most impressive. Only one major complication has occurred: erosion of the skin caused by a fold of the expander envelope resulting in exposure of the expander. This technique improves the early surgical management of giant pigmented nevi and may provide better long-term functional and cosmetic results.

Abdominal Neoplasms↗
PubMed1991

Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype.

A 6-week-old girl presented with cutis laxa, emphysema, heart anomalies and a diaphragmatic hernia. She died at 22 weeks. A recurrent ctb(7)(q31.3) was found and the laminin gene was suspected to be involved in the disease. Anti-human laminin antiserum showed that this protein was absent from the skin. This case, together with 17 other similar cases, could represent a new type of connective tissue disease.

Cells, Cultured↗