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Biomedical subjects

M Larrégue

Publications and source records attributed to M Larrégue.

11 recordsLinked to original sources
PubMed1995

[X-linked genodermatoses].

Chromosome X is one of the best genetically defined. Many disease loci are assigned to this chromosome, due to the peculiar mode of inheritance of X-linked disorders. Chromosome X undergoes X-inactivation in females. Recombination with chromosome Y occurs at pseudoautosomal regions. Some features of X-linked genodermatoses are a consequence of these phenomenons: variable expression, topography following Blaschko's lines. This can be seen in incontinentia pigmenti, focal dermal hypoplasia or hypohidrotic ectodermal dysplasia. Deletions at the pseudoautosomal region may cause contiguous gene syndromes. Hence ichthyosis with steroid-sulfatase deficiency may occur in association with various disorders. Transmitting females should be recognized by clinical examination or molecular studies, as this represents the main point in genetic counselling.

Female↗
PubMed1995

[Darier's erythema annulare centrifugum of neonatal onset with a 15 years' follow-up. Efficacy of interferon and role of cytokines].

INTRODUCTION: Darier's erythema annulare centrifugum (EAC) is a disease of unknown etiology. Some observations of EAC in infancy suggest a better prognosis for early EA. The observations presented herein gives different information regarding prognosis and pathogenesis. OBSERVATION: A child presents with typical lesions of EAC from early infancy up to the age of 15 years. Laboratory data are normal. Similar lesions were locally reproduced by intradermal injection by candidine but antifungal drugs were unsuccessful. Many antiinflammatory treatments failed to improve the disease. Because of the improvement during hyperthermic episodes, a treatment by subcutaneous interferon alpha (2 millions U 3 times a week) was given for six months with a dramatic success (with seric increase of TNF alpha and IL2) DISCUSSION: The long term duration of EAC suggests that EA of infancy may represent the early beginning of Darier's EAC. The efficacy of interferon suggests that cytokines are involved in the pathogenesis of EAC.

Cytokines↗
PubMed1991

[Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease].

Heterozygous Fabry's disease has an inconstant expression and very few complications. The theory of X-chromosome inactivation which, according to Lyon, occurs hazardly, is illustrated by the fact that the disease is expressed even in hemizygous women. Ophthalmic manifestations, as detected by the slit lamp method, are almost constant, 80 p. 100 of women with the disease having a verticillate cornea. Angiokeratoma is present in 20 p. 100 of the cases. Episodes of paraesthesia of the hands and feet are less common; in most cases they are attributed to the disease retrospectively, during family investigations. In two girls aged 10 and 11 years respectively and without history of Fabry's disease the only symptom suggestive of the diagnosis was paroxysmal acroparaesthesia. In one of the girls acroparaesthesia was associated with acrocyanosis, livedo and acro-osteolysis, but concordance was the only argument in favour of a link with Fabry's disease. Alterations of the extremities have been reported in this disease, including palmar erythema and a bluish discoloration of the palms due to dilatation of the superficial veins. Only two cases of livedo have been published. Acrosteolysis has never been documented in Fabry's disease, and its presence must be confirmed in further cases. The diagnosis of heterozygous Fabry's disease in these 2 girls was confirmed by the finding of ceramide trihexoside in urine and by leucocyte alpha-galactosidase levels that were 25 to 30 p. 100 of values obtained in controls. A study of the family of one of the girls showed that the father was involved; this hemizygous type of the disease with a 10 p. 100 alphagalactosidase level was totally asymptomatic.(ABSTRACT TRUNCATED AT 250 WORDS)

Acrodermatitis↗
PubMed1977

[Centrifugal annular erythema of Colcott-Fox type (erythema gyratum perstans)].

The case of a child with Colcott-Fox type of centrifugal annular chronic erythema is reported. It is a sporadic, non-familial form, associated with a bullous eruption, and an atrophic conjonctivitis with trichiasis. A review is made of 11 previously published cases, allowing a synthesis of their essential features. The action played by the slow reactive substances (S. R. S. A.) in the extension of the erythematous margin is discussed. The clinical diagnosis of centrifugal annular erythema is exposed.

Child, Preschool↗