[Facial papules and pneumothoraces. Birt-Hogg-Dubé syndrome]. / Faziale Papeln und Pneumothoraces. Birt-Hogg-Dubé-Syndrom.

A 43-year-old man presented with white to skin-colored shiny papules on the face and neck. In addition, he had a positive family history and reported on multiple pneumothoraces. Histopathological examination revealed a papular mucinosis. Considering these findings, we made the diagnosis of Birt-Hogg-Dubé syndrome (BHDS) that was confirmed by molecular genetic analysis. This autosomal dominantly inherited tumor disorder is caused by germline mutations in the folliculin (FLCN) gene that encodes for the eponymous protein folliculin. Clinically, BHDS is predominantly characterized by the occurrence of fibrofolliculomas and trichodiscomas. A papular mucinosis, as encountered in our patient, has been described only once previously. Besides the cutaneous symptoms the disease can be associated with lung cysts and pneumothoraces as well as the development of benign and malignant kidney tumors. Following confirmation of BHDS on the DNA level, all patients with multiple cutaneous fibrofolliculomas should be treated in an interdisciplinary setting and undergo regular prophylactic screening examinations due to the association with renal cell carcinomas.

[Operative therapy of acral melanomas]. / Operative Therapie von akral lokalisierten Melanomen.

Acral lentiginous melanomas (ALM) represent 4-10% of cutaneous melanomas in white populations. Patients with ALM seem to have a poor prognosis, often due to late diagnosis. Micrographic surgery (3D-histology) is not seen as surgical procedure but more as histopathological technique. With micrographic surgery, continuously spreading ALM can be excised with smaller excision margins and good functional and cosmetic outcomes. In a recent study, 244 patients with ALM were compared using conventional histology versus 3D-histology. Clinical and surgical risk factors influence the prognosis of ALM. Tumor thickness and ulceration are the most important prognostic factors. 3D-histology with paraffin technique (optionally combined with immunohistological methods) can reduce excision margins and avoid local recurrences. Subungual melanomas represent only 2-3% of cutaneous melanomas in Caucasian and 20% in African or Asian skin type and are often clinically misdiagnosed. They are often localized on the thumb or great toe, which are most important for the function of the affected limb. The excision of subungual melanoma with 3D-histology and tumor-free excision margins including the nail matrix can be seen as a safe surgical strategy, which does not hazard the prognosis of the patient. Function and cosmesis of the finger or toe are preserved. Amputation in subungual melanoma is not recommended and should be reserved only for infiltrating melanomas with affection of the bone or joint.

[Chronic actinic dermatitis. Therapy with systemic PUVA and mycophenolate mofetil]. / Chronisch aktinische Dermatitis. Therapie mit systemischer PUVA und Mycophenolatmofetil.

A 66-year-old man was diagnosed with psoriasis in 2001 and treated accordingly; in 2007, the diagnosis was switched to atopic dermatitis and the therapy modified. Initially he improved with fumarates and methotrexate, but then experienced recurrent exacerbations with erythroderma and severe superinfection requiring hospitalization. Based on the modified clinical picture with striking accentuation on the head and back of the hands, we diagnosed chronic actinic dermatitis. In September 2008 immunosuppressive therapy with mycophenolate mophetil (2×500 mg/d) was started. Since the response was modest, photo-hardening with systemic photochemotherapy (PUVA) was added, producing close to complete recovery within 6 months.

Professional risk for skin cancer development in male mountain guides--a cross-sectional study.

OBJECTIVE: For reasons of their outdoor work, mountain guides (MG) are heavily exposed to ultraviolet radiation during their work. METHODS: A standardized interview and examination were performed on 283 male MG (median 41 years) from Germany, Switzerland and Austria and 309 age-matched controls. The median occupation time as MG was 17 years; 39.9% were working full-time. RESULTS: The incidence of skin cancer and precancerous lesions was obtained. Precancerous lesions as solar keratosis (SK) were significantly more frequent in MG (25.4% vs. 7.4%). There was no skin cancer [BCC, SSC, melanoma (MEL)] in the control subjects. Basal cell carcinoma (BCC) was diagnosed in 20 MG (7.1%) and SSC in four MG (1.4%). There were 10 highly suspicious melanocytic lesions; one MG had a histologically confirmed malignant MEL. Risk factors for SK in the multivariate analysis included occupation (P < 0.0001), age (P < 0.0001) and skin type (P = 0.0002). Within the MG group, age (P < 0.0001) and hair colour (P = 0.0058) were independent risk factors for SK. Severe lifetime sunburns (P = 0.0007) and skin type (P = 0.041) were the significant risk factors for BCC, within the MG group in addition to the number of guiding days (P = 0.010). The risk factor for skin cancer (BCC, SCC and MEL) was the number of heavy sunburns during lifetime (P = 0.0014). CONCLUSION: The present study demonstrates an association between high occupational ultraviolet-exposure and an increased prevalence of precancerous skin lesions and skin cancer. MG may be considered as an example for other outdoor professionals. Skin cancer of outdoor workers is likely to be an occupational disease. Primary and secondary prevention should be enforced.

Acral lentiginous melanoma: conventional histology vs. three-dimensional histology.

BACKGROUND: Patients with acral lentiginous melanoma (ALM) seem to have a poor prognosis. ALMs represent 4-10% of cutaneous melanomas in white populations. Surgery is mostly based on conventional histological evaluation. With micrographic surgery, continuously spreading tumours can be excised with smaller excision margins for better cosmesis and function. OBJECTIVES: Clinical parameters and surgical strategies influencing the prognosis of patients with ALM were evaluated. METHODS: Two hundred and forty-one patients (44% male, 56% female) with stage I/II ALM were recorded during 1980-2006. One hundred and thirty-three patients underwent complete histology of three-dimensional excision margins (3D histology) using the paraffin technique. Risk factors for disease-specific and recurrence-free survival were estimated. RESULTS: Patients were aged 26-87 years (median 63) with median tumour thickness of 2.0 mm. The median follow-up was 41 months. Multivariate analysis identified ulceration, conventional histology and tumour thickness as risk factors for recurrence-free and disease-specific survival. Using 3D histology, excision margins were significantly smaller (median 7 vs. 20 mm) without an increased risk of local recurrences. Patients with 3D histology had a 5-year survival of 81% compared with 63% with conventional histology. Retrospective analysis with immunohistological methods (anti-Melan-A) could improve the diagnostic specificity in detecting further melanocytic cell nests. CONCLUSIONS: Clinical and surgical risk factors seem to have different influences on the outcome of ALM. 3D histology allows reduction of excision margins by two-thirds without an increased risk of local recurrences and with better prognosis. 3D immunohistology could be a valuable diagnostic tool to reduce the rate of local recurrences.