Search PubMed⌕ Search

Biomedical subjects

P Saiag

Publications and source records attributed to P Saiag.

At least 19 recordsLinked to original sources
PubMed2006

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.

The patched (PTCH) mutation rate in nevoid basal cell carcinoma syndrome (NBCCS) reported in various studies ranges from 40 to 80%. However, few studies have investigated the role of PTCH in clinical conditions suggesting an inherited predisposition to basal cell carcinoma (BCC), although it has been suggested that PTCH polymorphisms could predispose to multiple BCC (MBCC). In this study, we therefore performed an exhaustive analysis of PTCH (mutations detection and deletion analysis) in 17 patients with the full complement of criteria for NBCCS (14 sporadic and three familial cases), and in 48 patients suspected of having a genetic predisposition to BCC (MBCC and/or age at diagnosis < or =40 years and/or familial BCC). Eleven new germline alterations of the PTCH gene were characterised in 12 out of 17 patients harbouring the full complement of criteria for the syndrome (70%). These were frameshift mutations in five patients, nonsense mutations in five patients, a small inframe deletion in one patient, and a large germline deletion in another patient. Only one missense mutation (G774R) was found, and this was in a patient affected with MBCC, but without any other NBCCS criterion. We therefore suggest that patients harbouring the full complement of NBCCS criteria should as a priority be screened for PTCH mutations by sequencing, followed by a deletion analysis if no mutation is detected. In other clinical situations that suggest genetic predisposition to BCC, germline mutations of PTCH are not common.

Basal Cell Nevus Syndrome↗
PubMed2006

[Impact on the professional practices of French dermatologists of the 2001 consensus conference on the care of immunocompetent patients with cutaneous or mucous membrane herpes infection].

BACKGROUND: Our aim was to assess the impact of the 2001 French Consensus Conference on the professional practices of French dermatologists treating immunocompetent patients with mucocutaneous herpes simplex infection (ocular herpes excluded). This conference was preceded by a survey that revealed a lack of homogeneity in practices. METHODS: A questionnaire (similar to that of 2001) was submitted in 2003 to 205 dermatologists, half of whom had responded to the first survey. It contained 40 questions about diagnosis, prevention and treatment. The analysis compared the answers given in the 2001 survey with those of dermatologists either answering for the first time or answering again in 2003. RESULTS: In 2003, the response rate was of 96% (43% in 2001). Statistically significant changes were obtained for the following items: better knowledge of situations requiring a precise history of herpes infection, dramatic decrease in prescribing herpes serological tests, increase in prescribing serological tests for other sexually transmitted diseases in patients with genital herpes, better knowledge of prevention strategies, decreased intention of prescribing topical antiviral agents, increased intention of using oral antiviral agents in patients with recurrent genital or orofacial herpes and those with recurrent erythema multiforme. No statistically significant improvement was noted regarding: failure to prescribe any direct virology test to confirm herpes infection before prescribing long-term viral treatment, high use of "prophylactic" oral antivirals in patients with recurrence of UV-induced herpes. DISCUSSION: The fact that the telephone survey was conducted by a dermatologist rather than a service provider could account for the very high response rate observed. The utilization of a part of the sample of practitioners surveyed in 2001 lends credibility to the results. Our study nevertheless remains a survey of prescribing intentions rather than of actual practice. While the 2001 consensus conference on the practices of French dermatologists appears to have had a clear effect regarding numerous items, considerable progress is still required in certain diagnostic and therapeutic areas.

Consensus Statements as Topic↗
PubMed2005

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

The occuloalbinism 2 (OCA2) gene, localized at 15q11, encodes a melanosomal transmembrane protein that is involved in the most common form of human occulo-cutaneous albinism, a human genetic disorder characterized by fair pigmentation and susceptibility to skin cancer. We wondered whether allele variations at this locus could influence susceptibility to malignant melanoma (MM). In all, 10 intragenic single-nucleotide polymorphisms (SNPs) were genotyped in 113 patients with melanomas and in 105 Caucasian control subjects with no personal or family history of skin cancer. By comparing allelic distribution between cases and controls, we show that MM and OCA2 are associated (p value=0.030 after correction for multiple testing). Then, a recently developed strategy, the 'combination test' enabled us to show that a combination formed by two SNPs was most strongly associated to MM, suggesting a possible interaction between intragenic SNPs. In addition, the role of OCA2 on MM risk was also detected using a logistic model taking into account the presence of variants of the melanocortin 1 receptor gene (MC1R, a key pigmentation gene) and all pigmentation characteristics as melanoma risk factors. Our data demonstrate that a second pigmentation gene, in addition to MC1R, is involved in genetic susceptibility to melanoma.

Adult↗
PubMed2004

[The cost of Mohs micrographic surgery for basal cell carcinoma. The Ambroise Paré hospital's experience (Boulogne, France)].

OBJECTIVE: Mohs'micrographic surgery is generally considered as the best procedure for the treatment of difficult basal cell carcinomas. It is supposed to be costly, but an economic evaluation, with a cost-outcome analysis, is necessary to estimate the actual contribution of this procedure in skin cancer treatment, in comparison with the reference procedure, i.e. traditional surgical excision. Our aim was to evaluate the actual cost of Mohs'surgery applied on basal cell carcinoma treatment in France. METHODS: The charts of 97 patients treated by Mohs'surgery between january 1997 and july 2001 in a teaching hospital near Paris (Ambroise Paré hospital, Boulogne), where Mohs'surgery is exclusively performed in France, were reviewed. Direct costs were derived from resource utilization of staff and material required for Mohs'surgery, estimated by a micro-costing method. Indirect costs and total costs were then calculated. RESULTS: When adding surgery and pathology facility costs, mean direct and total costs per basal cell carcinoma were 776.0 (range: 538.4-1273.9), and 1014.6 Euros (range: 777-1512.4), respectively. When including costs of diagnosis, the average total cost per procedure was 1084.3 Euros. DISCUSSION: These costs appear higher than those obtained with other methods of valuation of hospital costs used in France, but they are slightly lower than those found in the literature. The next stage will be to estimate, in the same way, the cost of traditional surgical excision for the same type of lesions, and to calculate the incremental cost-effectiveness ratio between the two procedures, with rate of recurrence at five years as the effectiveness outcome.

Adult↗
PubMed2004

[Treatment of dermatofibroma protuberans with fixed Mohs' micrographic surgery].

INTRODUCTION: Dermatofibrosarcoma protuberans is a tumor of intermediate malignancy characterized by its aggressive local growth due to pseudopodium-like outgrowths and marked propensity to recur after surgical excision. To achieve complete cure with conventional surgery, surgical margins up to 5 cm are required, leading to wide scars. Mohs' micrographic surgery is used for the removal of certain malignant tumors, both ensuring complete excision by examination of all margins as well as minimizing normal tissue loss. However, differentiating minimal residual tumor from normal skin can be difficult on the frozen sections used in Mohs' micrographic surgery. Our aim was to develop a procedure of Mohs' micrographic surgery in conjunction with rush formalin-fixed, paraffin-embedded tangential sections. PATIENTS AND METHODS: Ten consecutive cases have been prospectively treated since 1998. Under local anesthesia, the tumor was first excised including lateral margin of 1 cm and a deep margin including the underlying muscle aponevrosis. A 2 to 3 mm thick horizontal section of the surgical bed was then removed, rush formalin-fixed, paraffin-embedded, tangentially sectioned, hematin-eosin stained, and eventually stained with an anti-CD34 monoclonal antibody. While waiting for pathology results, the surgical bed was not definitively closed. If excision was incomplete, an oriented complementary excision was performed. RESULTS: Excision was complete after the first stage in 7 patients and incomplete only deeply in 3. Lateral surgical margins were reduced to 1.3 cm in all patients, facilitating wound closure: direct suture (5 patients), controlled wound healing (3 patients) or flap coverage (2 patients). No recurrence has been observed after a mean follow-up of 26 months. DISCUSSION: The use of Mohs' micrographic surgery in conjunction with rush formalin-fixed, paraffin-embedded tangential sections reduce surgical margins in dermatofibrosarcoma protuberans. This procedure would be interesting in difficult sites, such as the genitalia, the breast, or the periarticular regions. Other cases, and longer follow-up are however necessary to validate this promising technique.

Adult↗
PubMed2004

[Mohs' micrographic surgery: history, principles, critical analysis of its efficacy and indications].

OBJECTIVES: To systematically review the literature for studies reporting on the role of Mohs' micrographic (MMS) surgery in the treatment of skin tumors. To show how it is performed in France. DESIGN: We reviewed with a quality grid all studies indexed in MEDLINE before 2003/01/01 and published in English or French. Data were extracted by two independent reviewers. MAIN OUTCOME MEASURES: Quality of clinical studies, recurrence rates, number of patients lost to follow-up. RESULTS: No randomized study was found among the 493 references found. Studies of lower quality, on procedures similar to MMS, or previous systematic reviews were therefore selected. In tumors such as basal (BCC) or spinous (SCC) cell carcinoma, microcystic adnexal carcinoma, dermatofibrosarcoma protuberans, and Merkel cell carcinoma, MMS commonly induced lower recurrence rates than figures reported for conventional treatments and/or reduced surgical margins. Studies on melanoma were of low quality. CONCLUSIONS: Although no evidence-based guidelines could be developed, MMS should be used mainly for larger, morphea, micronodular or infiltrative-type, or recurrent BCCs located in danger zones, but also (sometimes with a slightly modified procedure) in microcystic adnexal carcinomas, dermatofibrosarcoma protuberans, Merkel cell carcinoma, and in aggressive forms of SCC. Randomized, controlled studies should be performed.

Humans↗
PubMed2004

[Unusual cutaneous lesions of familial Mediterranean fever].

BACKGROUND: Familial mediterranean fever belongs to the periodic fever syndromes. During the attacks, fever is associated with abdominal pain, arthralgia, or both. Cutaneous involvement occurs in 7 to 46 p. 100 of cases and mainly consists in erysipelas-like erythema. We report on three patients treated for familial Mediterranean fever who developed unusual cutaneous lesions. OBSERVATIONS: All the patients had long past history of familial mediterranean fever without cutaneous involvement except, for the third patient who had pseudo-erysipela. The first patient had diffuse Sweet's syndrome-like lesions, the second developed long lasting panniculitis of the thigh and the third had a persistent and lichenified erysipela-like plaque. In two patients, skin histology revealed an inflammatory infiltrate with neutrophils. In all cases, an increase in the colchicine dose led to the rapid resolution of the lesions. DISCUSSION: In our 3 case reports, the lesions were particular because of their atypical clinical appearance, their long duration, and they differed from the usual pseudo-erysipela aspect. Histopathologically, the lesions were similar to pseudo-erysipela, which has led some authors to hypothesize that cutaneous lesions of familial mediterranean fever belong to neutrophilic dermatoses. This hypothesis is supported by the response to the increase in colchicine doses.

Aged↗
PubMed2004

[Relationship between clinical findings of patients with bullous pemphigoid and antigens recognized by their circulating antibasement membrane zone antibodies].

INTRODUCTION: Clinical features and extent of bullous pemphigoid lesions differed widely among patients. The pathogenic role of anti-BPAG2 antibodies has been recently demonstrated. The aim of this study was to analyze the relationship between clinical features of bullous pemphigoid patients and the antigens recognized by their serum. PATIENTS AND METHODS: One hundred and twelve bullous pemphigoid patients were included in this prospective multicenter study. Inclusion criteria were the following: 1) diagnosis of bullous pemphigoid established on the presence of 3 of the 4 clinical features of bullous pemphigoid, histological picture of bullous pemphigoid and positive direct immunofluorescence; 2) serum available for immunoblotting studies. The clinical and biological findings were prospectively recorded on standard forms. Sera were collected and analyzed using indirect immunofluorescence and immunoblotting on human epidermal extracts. RESULTS: Analysis of patient's clinical features depending on the antigens recognized by their serum showed that patients whose serum contained anti-BPAG1 antibodies had more frequently pruritus, blisters on the lower limbs and a positive indirect immunofluorescence. Patients whose serum contained anti-BPAG2 antibodies had blisters more frequently localized on the head, and a more frequently negative indirect immunofluorescence. Patients whose serum was negative by immunoblotting had less frequently urticarial and/or eczematous lesions, bullae less frequently localized on the lower part of the trunk, abdomen and lower limbs, lower eosinophilia and a more frequently negative indirect immunofluorescence. CONCLUSION: Patients with circulating anti-BPAG1 antibodies exhibited the most typical, clinical and biological features of bullous pemphigoid.

Aged↗
PubMed2003

[Treatment of pemphigus vulgaris by azathioprine and low doses of prednisone (Lever scheme)].

INTRODUCTION: The so-called "Lever scheme" therapeutic regimen has been proposed in the borderline forms of pemphigus to reduce the side effects of systemic corticosteroids. PATIENTS AND METHODS: A retrospective study was conducted in 8 hospital centers. The criteria for inclusion were the clinical diagnosis of pemphigus, confirmed by histological examination and direct immunofluorescence and first line therapy using the "Lever scheme" protocol, combining 40 mg of prednisone on alternate days and 100 mg/day of azathioprine. RESULTS: Twenty-two patients, seen between January 1990 and December 2000 were included in the study. Eighteen patients (82 p. 100) exhibited complete healing of their cutaneous-buccal lesions after a mean delay of 4.3 months. The lesions of 4 patients did not heal. Three of these patients died: a bed-ridden patient, a patient exhibiting a metastatic bronchial carcinoma and a hypertensive patient who died following a hemorrhagic cerebral vascular accident. Twelve patients (54 p. 100) were weaned off treatment after a mean duration of 2.9 years. Five severe adverse events were observed: one pneumonia, 2 unbalanced diabetes, one hepatitis and one pulmonary embolism. DISCUSSION: This study showed that the healing of the cutaneous-buccal lesions was obtained using the "Lever scheme" in 18 cases out of 22 (82 p. 100). The delay to healing was relatively long in view of the delayed effect of azathioprine. This limits the use of the "Lever scheme" protocol to non-extensive and/or early stage pemphigus. The severe adverse events occurred in low-weight patients in whom the dose related to weight was the highest. Hence the doses of azathioprine and prednisone should be adapted to patients' body weight.

Adult↗
PubMed2002

[National survey of dermatologists].

OBJECTIVE: The purpose of this survey was to ascertain current management practices of French dermatologists treating immunocompetent patients with cutaneomucosal herpes (ocular herpes excluded) as a prelude to the French consensus conference on this topic. METHOD: A random sample of French dermatologists were invited to respond to a telephone interview: 928 dermatologists were contacted. RESULTS: The 216 dermatologists who responded to the telephone interview provided care for five persons per month (pregnancy excluded) who consulted for orofacial or genital herpes. Nearly half of the dermatologists stated they do not talk about herpes spontaneously with their patients. When a suspect lesion is seen for the first time, 48 p. 100 of the dermatologists order one or two complementary exams. Their advice on prevention between partners basically concerns use of preservatives. Therapeutic attitudes vary depending on the type of herpes or the number of recurrences per year: 84 p. 100 of the dermatologists prescribe a specific antiviral treatment for patients with solar herpes. Virological proof of infection is not acquired in 84 p. 100 of the cases before initiating a long-term treatment for recurrence. The most widely used agents are valaciclovir 500 and aciclovir 200. CONCLUSION: This survey demonstrates a certain degree of divergence from the recommendations of the consensus conference. The participation rate appears to be satisfactory, but herpes serology is ordered too often and antiviral agents are not used in compliance with current guidelines. This survey will be redone after diffusion of the guidelines in order to evaluate their impact.

Acyclovir↗
PubMed2002

[National survey of gynecologists-obstetricians and general practitioners].

OBJECTIVE: The purpose of this survey was to ascertain current practices of French gynecologists-obstetricians (GO) and general practitioners (GP) treating immunocompetent patients with cutaneomucosal herpes (ocular lesions excluded) as a prelude to the French consensus conference on this topic. METHODS: A random sample of French GOs and GPs were invited to respond to a telephone interview: 330 GOs and 331 GPs were contacted. RESULTS: Response rate was 24 p. 100 among the GOs who could be contacted (49 responses) and 14 p. 100 among the GPs (45 responses). More than half the GPs cared for 1 to 5 cases of orofacial or genital herpes monthly. When a suspect lesion is seen for the first time, 51 p. 100 of the GOs order one or two tests to achieve virology proof: 65 p. 100 order herpes serology and 47 p. 100 PCR. For the GPs, 56 p. 100 do not order a complementary exam. Advice on prevention between partners basically concerns use of preservatives. The therapeutic attitude varies depending on the type of herpes and the number of recurrences per year. The most widely used agent is valaciclovir. A specific antiviral agent is prescribed for non-ocular herpes by 92 p. 100 of the GOs and 98 p. 100 of the GPs. Virological proof of herpes infection is not obtained by 65 p. 100 of the GOs and 78 p. 100 of the GPs before initiating long-term treatment for recurrence. Genital herpes during pregnancy appears to be rare; 57 p. 100 of the GOs had less than one case over the last five years. Only 33 p. 100 of them discuss herpes spontaneously with their consultants. When a suspect genital lesion is observed during pregnancy, 82 p. 100 seek virological proof. When there is a risk of neonatal herpes, the type of delivery depends on the type of herpes infection and the date of occurrence during the pregnancy. Cesarean section is performed systematically by 63 p. 100 of the GOs when there is a primary herpes infection after 34 weeks gestation. Most practitioners did not respond concerning their attitude for exams and surveillance for the infant. DISCUSSION: The number of responding practitioners was too small in this study to provide a representative sample. This study will be renewed with a larger sample of GOs in order to obtain reliable data. For general practitioners, there is a need for education concerning management of cutaneomucosal herpes which should be provided at the same time as the consensus conference guidelines are distributed.

Acyclovir↗
PubMed2002

[Bacterial cellulitis. Forms borderline between medical and surgical (3 cases)].

BACKGROUND: An acute infectious cellulitis may be managed medically (erysipelas or non-necrotizing infectious cellulitis) or surgically (necrotizing infectious cellulitis, necrotizing fasciitis). We report 3 cases of non-necrotizing infectious cellulitis borderline between medical and surgical forms, complicated by compartment syndrome, the surgical decompression of which permitted patients' cure. CASE REPORTS: Three patients, 27, 52 and 84 years old, were admitted for an acute infectious cellulitis of the leg. At admission, the leg area involved was erythematous, painful, indurated, with one or several bullae, purpura, pustules, hypoesthesia or limited skin necrosis, and no immediate need for surgical exploration. The clinical evolution was characterized by the slow appearance or extension of signs of severity, despite the modification in antibiotic treatment. Magnetic resonance imaging findings were indicative of a non-necrotizing infectious cellulitis in 2 patients. In one patient, necrotizing fasciitis could not be excluded. In all patients, surgical exploration showed an important quantity of non-purulent fluid between muscles and hypodermis, with no evidence of abscess or necrosis. A large incision rapidly cured all patients. DISCUSSION: These three observations were characterized by the initial signs of moderate severity and no response to an appropriate medical treatment, which led to surgical exploration. Surgery showed no abscess or necrosis but an important quantity of sterile fluid; it also permitted rapid cure of patients. These cases present a borderline form of infectious cellulitis, with severe local inflammation caused by a compartment syndrome. Surgical decompression was needed for cure. The potential value of magnetic resonance imaging in this situation should also be stressed.

Adolescent↗