Biomedical subjects
J Revuz
Publications and source records attributed to J Revuz.
Oesophageal involvement in pemphigus vulgaris.
Explore the source record for details and available documents.
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
We studied the NF1 gene in 93 unrelated patients with neurofibromatosis type1, focusing the analysis on four exons that contain the highest number of possible mutations occurring at CpG sites. We used denaturing gradient gel electrophoresis to analyse exons 16, 28, 29 and 49, which contain 45 (25%) of the 183 possible mutations that could occur at the 120 CpG dinucleotides of the coding sequence. Six different mutations were identified, five of which are novel: two truncating mutations, W1810X and 5448insG, located in exon29; two splice defects leading to exon29 skipping, 5206-2A>G and 5546G>A; and one missense mutation, L844F, located in exon16. The already described R1748X mutation located in exon29 was found in two unrelated patients. The 5546G>A and R1748X mutations are located at CpG sites, whereas the W1810X involves a CpNpG site. Four novel polymorphisms, which may be helpful for family studies, were also identified. Overall, all but one mutations were found in exon29, a result which suggests that all the CpG sites of the NF1 coding sequence do not have the same mutability, and that exon29, the most CpG-rich exon, contains mutational hotspots associated with NF1.
Toxic epidermal necrolysis.
Toxic epidermal necrolysis (TEN) is a rare but life-threatening adverse drug reaction. Implicated drugs are sulfonamides, anticonvulsants, allopurinol, and pyrazolone derivatives. Recently, advances in pathogenesis have been made in two directions. It is now known that (1) most patients with TEN have an abnormal metabolism to the culprit drug; and (2) the mechanism leading to epidermal necrolysis seems to be a cell-mediated cytotoxic reaction. The treatment remains symptomatic.
Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients.
Neurofibromatosis 1 (NF1) is associated with many internal complications as well as skin manifestations, and patients may require a variety of medical and surgical interventions. We aimed to assess the medical needs of NF1 patients, and to evaluate the financial cost of the resources used for them in relation to the severity of the disease. We conducted a prospective analysis on a cohort of 201 patients in our referral centre for adults. Severity of the disease was assessed. Therapeutic management was considered as multidisciplinary if it required more than three different specialists. Plastic and dermatological surgery procedures performed were recorded. Hospital costs were computed over a 3-year period and included all hospitalization days, clinic visits and procedures performed in all departments where the patients were admitted. One hundred and thirty-seven patients had at least one out-patient procedure or one hospitalization during the follow-up period. The mean cost per patient per year was pound810 (median 240; range 0-13, 860). Multidisciplinary procedures were more frequent in moderately and severely affected NF1 patients than in milder cases (P < 0. 0001); hence, the costs for moderate and severe cases were higher than for less severe groups (P = 0.005). Plastic and/or dermatological surgery was performed with the same frequency in the different severity groups (71%). Regardless of the presence of serious intractable complications, the patients' priority is for treatment of the disfigurement due to the disease. The management of these patients can be considered relatively inexpensive from the viewpoint of the healthcare system.
CD101 expression by Langerhans cell histiocytosis cells.
AIMS: Our objective was to study the expression of a recently identified cell surface molecule, CD101 and in Langerhans cell histiocytosis (LCH) patients as CD101 has been shown to be present on dendritic cells. We wanted to determine if CD101 expression could be helpful for the diagnosis of LCH in conjunction with other markers (CD1a, S100 protein), and could be predictive of the evolution and dissemination of the disease. METHODS AND RESULTS: The expression of CD101 was studied by immunohistochemical technique in 11 cases of Langerhans cell histiocytosis on frozen sections. The expression of CD101 was positive in nine cases, high in six cases and low in three cases. There was no expression in the other two cases. No correlation with the evolution, the localization or the dissemination of the disease could be evidenced. CONCLUSIONS: CD101 is a new phenotypic marker that might be useful in combination with other markers for the diagnosis of LCH. However, as the anti-CD101 antibody works only in frozen sections, its value is limited compared to anti-CD1a antibody.
SCORTEN: a severity-of-illness score for toxic epidermal necrolysis.
The mortality of toxic epidermal necrolysis is about 30%. Our purpose was to develop and validate a specific severity-of-illness score for cases of toxic epidermal necrolysis admitted to a specialized unit and to compare it with the Simplified Acute Physiology Score and a burn scoring system. A sample of 165 patients was used to develop the toxic epidermal necrolysis-specific severity-of-illness score and evaluate the other scores, a sample of 75 for validation. Model development used logistic regression equations that were translated into probability of hospital mortality; validation used measures of calibration and discrimination. We identified seven independent risk factors for death and constituted the toxic epidermal necrolysis-specific severity-of-illness score: age above 40 y, malignancy, tachycardia above 120 per min, initial percentage of epidermal detachment above 10%, serum urea above 10 mmol per liter, serum glucose above 14 mmol per liter, and bicarbonate below 20 mmol per liter. For each toxic epidermal necrolysis-specific severity-of-illness score point the odds ratio was 3.45 (confidence interval 2.26-5.25). Probability of death was: P(death) = elogit/1 + elogit with logit = -4.448 + 1.237 (toxic epidermal nec-rolysis-specific severity-of-illness score). Calibration demonstrated excellent agreement between expected (19. 6%) and actual (20%) mortality; discrimination was also excellent with a receiver operating characteristic area of 82%. The Simplified Acute Physiology Score and the burn score were also associated with mortality. The discriminatory powers were poorer (receiver operating characteristic area: 72 and 75%) and calibration of the Simplified Acute Physiology Score indicated a poor agreement between expected (9.1%) and actual (26.7%) mortality. This study demonstrates that the risk of death of toxic epidermal necrolysis patients can be accurately predicted by the toxic epidermal necrolysis-specific severity-of-illness score. The Simplified Acute Physiology Score and burn score appear to be less adequate.
Paraneoplastic pemphigus with circulating antibodies directed exclusively against the pemphigus vulgaris antigen desmoglein 3.
A patient with follicular B-cell lymphoma presented with erythroderma associated with cutaneous and mucosal blisters. Histologic and direct immunofluorescence analysis of lesional skin showed a typical pattern of paraneoplastic pemphigus (PNP). Interestingly, indirect immunofluorescence on rat bladder was negative and immunoblot analysis of the patient's serum on epidermal extracts demonstrated antiepidermal antibodies that only recognized the pemphigus vulgaris antigen desmoglein 3, with no antibodies directed against the different proteins of the plakin family. To our knowledge this has never been reported in the literature. It exemplifies the overlap between pemphigus vulgaris and PNP and the pathogenic role of anti-desmoglein 3 antibodies in PNP. Moreover, it underscores the need to consider clinical, histologic, and immunologic features for the diagnosis of PNP.
[What's the true value of a consensus conference?].
Explore the source record for details and available documents.
[Response to the anatomopathologists].
Explore the source record for details and available documents.
[Quality of life index in dermatology].
Explore the source record for details and available documents.
[Androgenetic alopecia and quality of life].
Explore the source record for details and available documents.
Polymerase chain reaction analysis of immunoglobulin gene rearrangement in cutaneous lymphoid hyperplasias. French Study Group for Cutaneous Lymphomas.
UNLABELLED: The differential diagnosis of cutaneous lymphoid hyperplasia and B-cell lymphoma may be difficult. Whether the detection of clonal immunoglobulin gene rearrangement in the cutaneous lesion is predictive of a malignant outcome remains controversial. We therefore studied cases of cutaneous lymphoid hyperplasia by polymerase chain reaction analysis. DESIGN: Retrospective study of patients seen between 1988 and 1996. SETTING: Two dermatology university departments. PATIENTS: Twenty-four patients with cutaneous lymphoid hyperplasias were included according to clinical, histopathological, and immunophenotypic criteria. MAIN OUTCOME MEASURES: Clinical, histopathological, and laboratory findings. RESULTS: There were 13 men and 11 women (mean age, 49 years) who presented with erythematous or violaceous papules or nodules. The lesions were unique in 13 cases and multiple in 11 cases. All patients had immunochemical evidence of a mixed T- and B-cell infiltrate with polytypic B cells. Polyclonality was demonstrated in 23 patients, whereas a dominant B-cell clone was detected in 1 patient. No lymphoma developed during the follow-up (median, 4 years). In the same period, we studied 53 cases of B-cell lymphomas. Thirty-five (66%) of the 53 cases had a detectable clonal immunoglobulin gene rearrangement. CONCLUSIONS: In the majority of our cases, polyclonality demonstrated by polymerase chain reaction analysis was in accordance with the diagnosis of cutaneous lymphoid hyperplasia. In 1 of the 24 patients, the presence of a B-cell clone could be evidenced. This fact did not modify the treatment as there were no histological or immunophenotypic signs suggestive of a lymphoma.
Oral Crohn disease: clinical characteristics and long-term follow-up of 9 cases.
BACKGROUND: Oral localization of Crohn disease is uncommon and must be differentiated from nonspecific lesions. Its natural course and its long-term prognosis are unknown. OBSERVATIONS: We studied 9 patients (8 male, 1 female; age range, 7-52 years; median age, 16 years) with Crohn disease and specific oral lesions, including deep linear ulcers, pseudopolyps, and/or labial or buccal swelling and induration. The prevalence of such lesions was 0.5%. The median follow-up was 11 years. Oral localization developed before (n = 2), at the same time as (n = 2), or after (n = 5) the onset of the digestive disease. Noticeable associated localizations were observed in the anoperineum (n = 8) and the esophagus (n = 3). The median duration of the oral lesions was 4 years (range, 1-13 years), without necessary parallelism with the digestive localization. Five patients had complete healing after a median delay of 2 years. CONCLUSIONS: Oral localization of Crohn disease is characterized by a marked male predominance, a young age at onset of Crohn disease, and a very protracted course. The high prevalence of associated anal and esophageal involvement suggests that Crohn lesions have a particular trophicity for squamous cell epithelium.
Hepatitis C virus infection in cutaneous polyarteritis nodosa: a retrospective study of 16 cases.
Explore the source record for details and available documents.
Allergic emergencies encountered by the dermatologist. Severe cutaneous adverse drug reactions.
Explore the source record for details and available documents.
Treatment of cutaneous lymphoid hyperplasia with thalidomide: report of two cases.
Cutaneous benign lymphoid hyperplasia is a B-cell pseudolymphoma of unknown origin. The most favored sites of involvement include the face. We report two cases involving the nose that showed complete and stable regression after a 2-month treatment course with thalidomide.
Nevirapine-induced overlap stevens-johnson syndrome/toxic epidermal necrolysis.
Explore the source record for details and available documents.