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Y de Prost

Publications and source records attributed to Y de Prost.

At least 55 records · Page 3Linked to original sources
PubMed1994

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.

The generalized mutilating form of recessive dystrophic epidermolysis bullosa (i.e., the Hallopeau-Siemens type; HS-RDEB) is a life-threatening disease characterized by extreme mucocutaneous fragility associated with absent or markedly altered anchoring fibrils (AF). Recently, we reported linkage between HS-RDEB and the type VII collagen gene (COL7A1), which encodes the major component of AF. In this study, we investigated 52 unrelated HS-RDEB patients and 2 patients with RDEB inversa for the presence, at CpG dinucleotides, of mutations changing CGA arginine codons to premature stop codons TGA within the COL7A1 gene. Eight exons containing 10 CGA codons located in the amino-terminal domain of the COL7A1 gene were studied. Mutation analysis was performed using denaturing gradient gel electrophoresis of PCR-amplified genomic fragments. Direct sequencing of PCR-amplified products with altered electrophoretic mobility led to the characterization of three premature stop codons, each in a single COL7A1 allele, in four patients. Two patients (one affected with HS-RDEB and the other with RDEB inversa) have the same C-to-T transition at arginine codon 109. Two other HS-RDEB patients have a C-to-T transition at arginine 1213 and 1216, respectively. These nonsense mutations predict the truncation of approximately 56%-92% of the polypeptide, including the collagenous and the noncollagenous NC-2 domains. On the basis of linkage analysis, which showed no evidence for locus heterogeneity in RDEB, it is expected that these patients are compound heterozygotes and have additional mutations on the other COL7A1 allele, leading to impaired AF formation.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1992

Unilateral laterothoracic exanthem in children: a new disease?

BACKGROUND: We have examined 18 children with a similar laterothoracic exanthem that appears to represent a distinct entity. OBJECTIVE: Our purpose was to describe the characteristic signs and clinical course of this eruption and its epidemiology data. METHODS: We observed the clinical course of the eruption in each child. RESULTS: The eruption has characteristic features. It occurs in a homogeneous age group (mean 23.3 months). It is initially unilateral and localized close to the axilla. The basic lesion is eczematous or scarlatiniform. The eruption evolves in two phases: it spreads centrifugally during the first 8 days and becomes more widespread on the tenth to fifteenth days, with predominant involvement on the half of the body initially affected. The lesions resolve spontaneously within 4 weeks. The long-term course is uneventful. CONCLUSION: The similarity of the cases suggests the existence of a new clinical entity. Many features favor a viral origin.

Axilla↗
PubMed1992

Atopic dermatitis: recent therapeutic advances.

New treatments were recently proposed for the management of severe atopic dermatitis (AD). They all act on some component of the immune reaction. Oral cyclosporine reduces the number of CD4+ cells, the secretion of interleukins, and the function of Langerhans cells. Although the action of oral cyclosporine at moderately high dosages is regular and rapid, the risk of serious side effects and the reappearance of progressive disease after stopping treatment limits the use of this drug in AD. Thymic hormone extracts in patients with severe AD affect the deficit of cellular immunity. gamma-Interferon inhibits IgE synthesis induced by interleukin-4, increases expression of Fc gamma receptors, and increases superoxide production by circulating monocytes. More recently, two other treatments were published: complexes of allergen and specific antibodies to Dermatophagoides pteronyssinus, and interleukin-2. All of these modalities have only a transitory effect, but they can help to modify a flare of severe AD.

Adult↗
PubMed1992

Management of severe atopic dermatitis.

The lack of knowledge concerning the pathophysiology of atopic dermatitis (AD) explains the absence of any specific treatment specially in severe atopic dermatitis. New treatments were recently suggested for the management of the disease. They all act on some component of the immune mechanisms which provoke the eczematous reactions. Among recent treatments proposed, I will discuss the use of cyclosporin A, puva therapy, thymopoietin and thymostimulin, antifungal therapy, alpha and gamma interferon, and treatment with interleukin 2.

Cyclosporine↗
PubMed1992

[Kasabach-Merritt syndrome in children].

Kasabach-Merritt syndrome is a combination of thrombocytopenia, intravascular coagulation, and a rapid increase in the size of an angioma. Anemia and disseminated intravascular coagulation may develop. This infrequent syndrome is severe and may be life-threatening. Pathophysiologic mechanisms underlying the condition are incompletely understood and, consequently, many different treatments are used, including systemic corticosteroids, compression, embolization, antifibrinolytic agents, platelet aggregation inhibitors, irradiation, and others. From findings in eight personal cases, the authors review clinical and biological features, pathophysiologic hypotheses and therapeutic strategies.

Aspirin↗
PubMed1992

[Cutaneous lesions in the orofaciodigital syndrome].

The term OFD syndrome designates a group of heterogeneous clinical patterns of which seven different types have been described. Type I, or Papillon Léage syndrome, is the most common pattern and the only type in which skin lesions occur. Type I OFD is a sex-linked dominant disorder. Two cases of OFD Type I with cystic lesions of the face are reported herein. The second patient also had polycystic kidneys. This combination has already been reported previously and all children with OFD should be investigated for polycystic kidney disease.

Female↗
PubMed1991

[Dubowitz syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗