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. These included c.1821_1826+1delinsCT/L607Ffs*9, c.2666A>T/p.D889V and c.2712delT/p.905Kfs*8. By extending the spectrum of CYLD mutations, better understanding of the molecular mechanisms of BSS can be gained, which might later assist in finding new treatment options.

[Diagnosis of non dermatophyte onychomycosis ant its relevance for treatment]. / Diagnostic des onychomycose a moisissures et importance pour le traitement.

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. and Aspergillus spp. as infectious agents. However, NDM onychomycosis could be efficiently cured using topical amphotericin B. In conclusion, correct fungal species identification is important in onychomycoses in order to prescribe adequate treatments since dermatophytes and moulds have different sensitivities to antifungal drugs.

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. OBJECTIVE: The aim of this work is to report the efficacy of a topical amphotericin B solution on NDM onychomycosis in a series of 8 patients resistant to multiple conventional topical and systemic treatments. METHODS: Treatment consisted in the application of an optimized amphotericin B solution once daily to the affected nails and surrounding tissue. No mechanical debridement or medications were allowed except for trimming excessively long nails or in some cases occasionally applying urea-based cream to soften thickened nail plates. RESULTS: Onychomycosis was clinically cured in all patients after a 12-month treatment. Mycological cure was obtained in all but 1 patient. CONCLUSIONS: Topical amphotericin B is an efficacious, safe, cheap and easy-to-apply treatment which should be considered as first-line therapy for NDM onychomycosis.

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. RESULTS: PCR/RFLP identification of fungi in nails allows the identification of the infectious agent: Fusarium sp., Acremonium sp. and Aspergillus sp. were found as a sole infectious agent in 5, 2 and 1 cases, respectively. CONCLUSIONS: Fusarium spp. and other non-dermatophyte filamentous fungi are especially difficult to cure in onychomycoses utilising standard treatment with terbinafine and itraconazole. PCR fungal identification helps demonstrate the presence of moulds in order to prescribe alternative antifungal treatments.

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%). The laparoscopic approach can prevent the complications associated with the conventional approach when dealing with recurrent incisional hernias. The aim of this study was to evaluate the efficacy of laparoscopic treatment in such cases. MATERIALS AND METHODS: We prospectively analyzed data from 41 consecutive patients with recurrent incisional hernias, who submitted to a laparoscopic repair procedure with an expanded polytetrafluoroethylene Dual Mesh (Gore-Tex Dual Mesh Plus Biomaterial; W.L. Gore 8 Associates) from December 2001 to December 2004. All of the patients underwent clinical follow-up at 1, 6, and 12 months and then yearly. An ultrasound scan of the abdominal wall was performed at 6 and 12 months after the procedure. The parameters considered for the analysis were: mesh size, operating time, hospital stay, postoperative complications, and recurrences. RESULTS: The defects were usually localized along midline laparotomies. The mean mesh size was 400 cm2, the mean operating time was 68 minutes, and the mean length of hospital stay was 2.7 days. Complications were encountered in 17% of patients. The mean follow-up was 38 months (range, 18-54). Recurrence was reported in 1 case only (2.4%), which occurred within the first 6 months after the operation. CONCLUSIONS: The laparoscopic repair of recurrent incisional hernia seems to be an effective alternative to the conventional approach, as it can give lower recurrence and complication rates.

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. Diagnostic procedures including cystourethrography and cystoscopy revealed a giant bladder diverticulum causing ab extrinseco compression of the urethra. The iatrogenic aetiology of the vicious circle of chronic urethral obstruction and increased luminal pressure promoting diverticular growth is discussed.

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. Patient data, preoperative, intraoperative, and postoperative records, were recorded and analyzed. Mean defect size was 84 cm2, mean mesh size was 311 cm2, mean surgical time was 65 minutes, and mean hospital stay was 2.25 days. Postoperative complications occurred in four patients (9.1%). The laparoscopic approach is a safe, effective, and relatively complication-free option in the management of first-time and recurrent incisional hernias. The use of modified ePTFE mesh with a dual surface in incisional hernia repair enables early tissue attachment, reduces adhesions, and could reduce the incidence of recurrences.