Dramatic Increase in Incidence of Ulcerative Colitis and Crohn's Disease (1988-2011): A Population-Based Study of French Adolescents.

OBJECTIVES: Few data are available to describe the changes in incidence of pediatric-onset inflammatory bowel disease (IBD). The aim of this study was to describe changes in incidence and phenotypic presentation of pediatric-onset IBD in northern France during a 24-year period. METHODS: Pediatric-onset IBD (<17 years) was issued from a population-based IBD study in France between 1988 and 2011. Age groups and digestive location were defined according to the Paris classification. RESULTS: 1,350 incident cases were recorded (8.3% of all IBD) including 990 Crohn's disease (CD), 326 ulcerative colitis (UC) and 34 IBD unclassified (IBDU). Median age at diagnosis was similar in CD (14.4 years (Q1=11.8-Q3=16.0)) and UC (14.0 years (11.0-16.0)) and did not change over time. There were significantly more males with CD (females/males=0.82) than UC (females/males=1.25) (P=0.0042). Median time between onset of symptoms and IBD diagnosis was consistently 3 months (1-6). Mean incidence was 4.4/105 for IBD overall (3.2 for CD, 1.1 for UC and 0.1 for IBDU). From 1988-1990 to 2009-2011, a dramatic increase in incidences of both CD and UC were observed in adolescents (10-16 years): for CD from 4.2 to 9.5/105 (+126%; P<0.001) and for UC, from 1.6 to 4.1/105 (+156%; P<0.001). No modification in age or location at diagnosis was observed in either CD or UC. CONCLUSIONS: In this population-based study, CD and UC incidences increased dramatically in adolescents across a 24-year span, suggesting that one or more strong environmental factors may predispose this population to IBD.

[Skin and mucosal erosions revealing secondary syphilis with otologic and eye disorders]. / Érosions cutanéo-muqueuses révélant une syphilis secondaire avec atteintes otologique et ophtalmologique.

BACKGROUND: The clinical polymorphism of syphilis leads to diagnostic issues. We report a case of secondary syphilis revealed by skin and mucosal erosions, and responsible for sensorineural hearing loss and asymptomatic papillitis. PATIENTS AND METHODS: A 55-year-old man presented oral and peri-anal erosions as the initial symptoms of secondary syphilis. He reported hypoacusis and a pure-tone audiogram revealed bilateral sensorineural hearing loss. Ophthalmological investigation revealed isolated right papillitis and superior temporal scotoma with blind-spot enlargement. TPHA-VDRL serology was strongly positive for plasma (TPHA 1/10,240 and VDRL 1/64) but doubtful for cerebrospinal fluid. For his hearing and eye disorders, considered as related to neurosyphilis, the patient received a 14-day course of intravenous penicillin G, associated with systemic corticosteroids with gradual reduction over a period of fifteen weeks. The patient's skin and mucosal erosions resolved, as did his papillitis. His hearing loss remained stable. Serological monitoring at three months showed a sixteen-fold decrease in VDRL titre. DISCUSSION: The re-emergence of syphilis has led to increasing incidence of related ophthalmological and otological disorders. This report highlights the first-line role of the dermatologist in systematic diagnosis and in screening for associated involvement.

[Tuberculosis, mycobacterium infection and hairy cell leukemia]. / Tuberculose, infection à mycobactéries et leucémie à tricholeucocytes.

OBJECTIVES: Diagnosis of tuberculosis and/or mycobacteria infection is particularly difficult in immunocompromised patients. PATIENTS AND METHODS: We examined the clinical presentation, means of diagnosis, treatment and outcome of tuberculosis in a retrospective study of 6 patients among 75 with hairy cell leukemia diagnosed from 1982 to 1995. RESULTS: Hearlding symptoms of tuberculosis diagnosis were: fever (6/6), weight loss (4/6), pleural effusion (1/6), superficial adenopathy (1/6), persistence of cytopenia or splenomegaly during the treatment of hairy cell leukemia. Pulmonary symptoms were present in only two cases. Diagnosis was obtained by positive culture of mycobacteria in 2 cases (Mycobacterium tuberculosis in pleural effusion, Mycobacterium kansaii in adenopathy). Microbiological diagnosis was never obtained from sputum (6/6). Diagnosis was obtained by histopathology in all cases: from bone marrow (2 cases), lymph nodes (2 cases), liver (1 case), spleen (1 case), umbilical fat (1 case). Tuberculosis was disseminated in all cases. By clinical, biological, microbiological histopathological means and response to treatment, tuberculosis was considered as: hematopoietic in all cases, hepatic (in 4/6), pleural (1/6), pulmonary (1/6). A favorable outcome of tuberculosis was observed in all cases. No death was observed. CONCLUSIONS: Tuberculosis was found in 8% of hair cell leukemia patients. In hairy cell leukemia, tuberculosis is characterized by few pulmonary symptoms and scarse microbiological documentation. In contrast, histopathology is very interesting to confirm diagnosis. Tuberculosis is in most cases disseminated and in particular hematopoietic diffusions is always present. In spite of existensive localization, the prognosis remains excellent and all patients can be cured. In our opinion, this good prognosis may be linked to the improvement of hairy cell leukemia treatment observed since the advent of interferon pentostatin and 2cdA.

Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.

The mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal and neurological symptoms. It is a rare autosomal recessive mitochondrial disorder with multiple mitochondrial DNA deletions and/or depletion. It is caused by thymidine phosphorylase (TP) gene mutations resulting in a complete abolition of TP activity. We tested 31 unrelated patients presenting either with a complete MNGIE syndrome (8 patients), a severe intestinal pseudo-obstruction (10 patients), and multiple deletions and/or depletion of mitochondrial DNA (13 patients). All the tested patients presenting with a complete MNGIE had increased thymidine levels in plasma and urine, and no TP activity. The group with pseudo-obstruction syndrome had normal or partial reduction of TP activity. We found pathogenic mutations on TP gene only in the MNGIE syndrome group: all the MNGIE patients were compound heterozygous or homozygous for mutations in the TP gene. Eight of these mutations are yet unreported, confirming the lack of genotype/phenotype correlation in this syndrome. Enzymatic activity and thymidine level are thus rapid diagnosis tests to detect MNGIE affected patients prior to genetic testing for patients with gastrointestinal symptoms.

Secondary acute lymphoblastic leukemia with t (4;11): report on two cases and review of the literature.

We report two cases of secondary acute lymphoblastic leukemia (ALL) with t (4;11) (q21;q23) translocation occurring after chemotherapy and radiotherapy for a prior cancer. Seven previously published cases of secondary ALL with t (4;11) (q21;q23) are also reviewed. Most patients had received a combination of topoisomerase II inhibitors (anthracyclines, mitoxantrone, or the epipodophillotoxin derivatives VP16 or VM26) and cyclophosphamide, which have also been implicated in the pathogenesis of secondary acute myeloid leukemia (AML) with 11q23 rearrangements. These observations give further support to the existence of a subgroup of secondary acute leukemias with cytogenetic findings "specific" for de novo ALL and AML, especially those with translocations involving the 11q23 region.