Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Brooke-Spiegler syndrome is a rare autosomal-dominant genetic disorder characterized by multiple adnexal tumors, including cylindromas, spiradenomas, spiradenocylindromas and trichoepitheliomas. It is caused by germline CYLD mutations commonly leading to a premature stop codon. We here report on 3 novel CYLD mutations in 3 unrelated BSS patients, including the classic phenotype, multiple familial trichoepitheliomas phenotype and malignant transformation.

[Diagnosis of non dermatophyte onychomycosis ant its relevance for treatment].

PCR methods are reliable and suitable to in situ identify dermatophytes, yeasts and non dermatophyte moulds (NDM) in onychomycosis. Onychomycosis insensitive to standard treatment with topical agents as well as with oral terbinafine or itraconazole revealed Fusarium spp., Acremonium spp.

Efficacious treatment of non-dermatophyte mould onychomycosis with topical amphotericin B.

Background: Dermatophytes are the main cause of onychomycosis, but various non-dermatophyte moulds (NDMs) are often the infectious agents in abnormal nails. In particular, Fusarium spp. and other NDMs are mostly insensitive to standard onychomycosis treatment with topical agents as well as with oral terbinafine and itraconazole.

Onychomycosis insensitive to systemic terbinafine and azole treatments reveals non-dermatophyte moulds as infectious agents.

Background: Dermatophytes are the main cause of onychomycoses, but various non-dermatophyte filamentous fungi are often isolated from abnormal nails.

Objective: Our aim was the in situ identification of the fungal infectious agent in 8 cases of onychomycoses which could not be cured after systemic terbinafine and itraconazole treatment.

Methods: Fungal DNA was extracted from nail samples, and infectious fungi were identified by restriction fragment length polymorphism (RFLP) of amplified fungal ribosomal DNA using a previously described PCR/RFLP assay.

Laparoscopic approach to recurrent incisional hernia repair: a 3-year experience.

Background: Incisional hernias are one of the most frequent complications of open abdominal surgery. The incidence of relapses after a conventional repair procedure is higher in recurrent than in primary cases (30%-50% vs. 11%-20%).

Giant bladder diverticulum presenting with recurrent acute urinary retention--a rare event in adult patients: case report.

Acquired giant bladder diverticula of obstructive genesis are not particularly unusual. On the other hand, acute urinary retention due to bladder diverticula is an extremely rare event in adult patients, since most cases are paediatric. A 40-year-old white male with a history of invasive urological procedures presented with recurrent acute urinary retention.

Use of a new type of PTFE mesh in laparoscopic incisional hernia repair: the continuing evolution of technique and surgical expertise.

We present the results of our first 44 laparoscopic incisional hernia repairs. This study examines the effectiveness of this technique in patients presenting with a first-time or recurrent incisional hernia. From October 2001 to November 2002, a total of 45 consecutive patients underwent laparoscopic incisional hernia repair with a new form of expanded polytetrafluoroethylene (ePTFE) mesh.