[Predisposition to infection in patients with pemphigus. Retrospective study of 141 cases]. / Prédisposition aux infections des malades ayant un pemphigus Etude rétrospective de 141 cas.

INTRODUCTION: The relation between pemphigus and infection is complex. The aim of this work was to determine the frequency and impact of infection as well as the factors associated with it among our patients with pemphigus. METHODS: This retrospective case series examined records of patients with pemphigus admitted to the dermatology unit of Ibn Sina University Hospital of Rabat between 1989 and 2004. We compared the patients with and without infections as well as the patients with and without severe bacterial infections according to patient profile and outcome. The principal outcome measure was death and the secondary measure, duration of hospitalization. RESULTS: Of the 141 patients with pemphigus included in our study, 68% developed an infection. Infections were bacterial in 52% of cases, fungal in 50%, herpetic in 19% and parasitic in 1.5%. They were associated with diabetes mellitus and immunosuppressive drugs. Severe bacterial infection was frequent in patients with diabetes and rare in those treated with corticosteroids or with pemphigus foliaceous. Death occurred significantly more often among infected subjects (p=0.01), especially those with severe bacterial infections (p<0.001). Hospitalization was slightly longer among patients with infections (p=0.01) but shorter in cases of severe bacterial infections (p=0.004). DISCUSSION: Our study confirms the predisposition to all types of infection among patients with pemphigus, as well as the undeniable role its treatment plays in promoting infection. Severe bacterial infections were most often contracted before hospitalization. The literature reports a wide variety of infections, with pemphigus-herpes documented most often. Prevention and management require hygienic measures as well as early diagnosis and treatment of pemphigus and infections. Preventive treatment may be considered, but studies are needed to define the patients who might benefit from it.

Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.

The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, whereas CYLD remained as a candidate. Mutation analysis identified a single bp germ-line deletion expected to result in truncation or absence of the encoded protein, which segregated with the multiple TE phenotype. In individual tumors, loss of heterozygosity at 16q or a somatic point mutation in the CYLD gene was detected. Hence, mutations of the tumor suppressor gene CYLD at 16q12-q13 may give rise to familial TE indistinguishable from the phenotype assigned to 9p21.