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P Vabres

Publications and source records attributed to P Vabres.

10 recordsLinked to original sources
PubMed1995

The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq.

Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early onset of multiple basal cell carcinomas. Previous reports suggested an X-linked mode of inheritance. We therefore performed linkage analysis with microsatellite markers of the X chromosome in three families. We obtained evidence for X-linkage and regional assignment to Xq24-q27 of this syndrome (maximal lod score = 5.26 with a recombination fraction of 0% at the DXS1192 locus). This represents a first step towards the identification of a gene involved in hair follicle development and skin tumor formation.

Basal Cell Carcinoma↗
PubMed1995

Incontinentia pigmenti: late sequelae and genotypic diagnosis: a three-generation study of four patients.

Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis. An infant was born with a typical IP rash. Dermatologic examination of the women in her family revealed that her mother, her maternal aunt, and her grandmother had subtle skin signs reminiscent of IP. The four family members proved to be informative for DNA markers in the Xq28 region. Familial cases of IP are sometimes missed due to the lack of recognition of some late skin signs that are not always hyperpigmented streaks. Subtle, faint, hypochromic or atrophic lesions in a linear pattern may occur. Thus an accurate diagnosis of the women in a particular family also requires anamnestic data and recognition of extracutaneous anomalies. When a clinical diagnosis has been made, DNA marker analysis allows us to offer a prenatal diagnosis with minimal risk of error in case of further pregnancy. However, early testing of chorionic villus samples does not allow one to predict the severity of the disease in an affected fetus.

Adult↗
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↗
PubMed1994

The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28.

Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is confirmed (Z max = 11.85 at theta = 0.028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at theta = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus.

Animals↗
PubMed1994

[Acute arthritis during isotretinoin treatment].

We report a case of acute arthritis of the knee which occurred in a dose-dependent manner during treatment with isotretinoin. Recurrence was seen at rechallenge. Only three observations of acute arthritis induced by isotretinoin have been reported in the literature. This side effect is rare and does not require drug withdrawal but rather an adapted dose.

Acne Vulgaris↗