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Notizen: We report a 24-year-old woman, her 6-year-old son and her 1 7-month -old daughter, who all suffer from a rare congenital genodermatosis first delineated by Huriez et al. in the 1960s. The clinical features of this autosomal dominant condition include scleroatrophy of the hands and feel, nail hypoplasia, mild palmoplantar keratoderma and hypohidrosis. Histological changes are non-specific, but immunohistological and ultrastructural examination in our index patient revealed an almost complete absence of epidermal Langerhans cells in the affected skin. This new finding may be linked to the cancer proneness of the scleroatrophic skin. In this family, the grandmother had died at the age of 37 years from metastatic squamous cell carcinoma which had arisen on the thenar eminence.

Notizen: A 59-year-old woman with a single cuff-like plaque, consisting of multiple skin-coloured to bluish cysts and comedones on her right forearm is reported. The solitary lesion resembled, morphologically and histologically, the Favre–Racoucht syndrome. The above condition is another case of the previously described actinic comedonal plakque, which seems to be a rare entity within the spectrum of disease caused by actinic damage to the skin.

Notizen: Background Focal hyperhidrosis is a common condition mostly confined to the axillae, palms and soles. In some individuals, predominantly men, increased sweating of the forehead may be the major complaint and may interfere with the person’s quality of life. Botulinum toxin A has been shown to be a very effective treatment for focal hyperhidrosis of the axillae and palms. Objectives To assess the response in 10 men suffering from frontal hyperhidrosis treated with botulinum toxin A. Methods Botulinum toxin A Botox® was injected at multiple sites evenly distributed over the forehead (mean dose 86 mouse units) . Results The mean ± SEM amount of sweat was significantly reduced, 4 weeks after treatment, from 173·8 ± 38·6 mg min−1 to 53·7 ± 17·6 mg min−1. The effect lasted at least 5 months in nine of the 10 patients. All patients subjectively judged the treatment as very effective. Minor side-effects included painful injections and a transient weakness of forehead muscles without ptosis. Conclusions In this study, we provide evidence that botulinum toxin A is an effective and safe treatment for frontal hyperhidrosis.

Notizen: Summary We report three cases of acute generalized exanthematous pustulosis (AGEP) following oral administration of nystatin. All cases showed similar clinical features and hislopathological findings, and a delnyed-type hypersensitivily to nystatin could be demonstrated in patch and prick testing. Drug eruptions to nystatin are extremely rare, and, to our knowledge, AGEP has not been reported previously.

Notizen: Temporal arteritis, a variant of giant cell arteritis, is a systemic granulomatous vasculitis of large and medium-sized arteries. Usually the clinical Features arc dominated by ophthalmological and neurological complications. In rare instances, ischaemic necrosis, especially of the scalp, may lead patients to the dermatologist. We report a 76-year-old woman presenting with a unilateral scalp necrosis, accompanied by a dramatic ipsilateral impairment of vision. Immediately after duplex-sonography of the extracranial vessels and after initiation of corticosteroid therapy, the diagnosis of temporal arteritis was confirmed by temporal art en biopsy. One month later, because of insufficient secondary healing of the ulcer, the defect was covered by a mesh graft. The taking of the graft was delayed due to immunosuppressive therapy, but was complete. The patient unfortunately died as a result of complications related to surgical removal of an aspergilloma in the sphenoid cavity secondary to immunosuppressive therapy. We discuss the technique of artery biopsy and the possibility of surgical management of scalp necrosis in temporal arteritis.

Notizen: Congenital hyponychia and anonychia are rare malformations which may form part of syndromes such as nail–patella syndrome, ectodermal dysplasias and brachydactylies, or may occur as an isolated finding. Congenital hyponychia and anonychia are frequently accompanied by underlying skeletal abnormalities. A 20-year-old woman showed congenital bilateral hypoplasia or aplasia of the second, third and fourth toenails with corresponding phalanx dysplasia or aplasia of the affected toes. Malformations of the hands or other congenital defects were absent. The findings in this patient do not exactly fit any known entities. Our clinical observation prompted us to review the literature on congenital hyponychia/anonychia and to summarize recent advances in understanding molecular events in nail development. In conclusion, the association of nail anomalies with aplasia and/or hypoplasia of corresponding middle and/or distal phalanges supports the hypothesis of bone-dependent nail formation.

Notizen: We describe a 13-year-old girl with multiple pigmented nodules and plaques arranged in a cluster in the right lumbar region, which had developed since infancy.Eleven of 15 lesions which were examined histologically were found to be Spitz naevi. The remaining four lesions were compound naevocellular naevi, and two of them showed focal dysplasia. Eight Spitz naevi were investigated immunohistologically with monoclonal antibodies against HLA-antigens and malignancy-associated melanocytic antigens which are rarely present in common naevi. Naevus cells in all lesions expressed HLA-ABC antigens, but lacked HLA-DR antigens in seven of the eight lesions. All naevi were positive for ‘constitutive’ (KG-6-56) and ‘early’ (K-i-2) markers of nacvomelanocytic cells. In five of the eight Spitz naevi, at least one of the three malignancy-associated melanocytic antigens PAL-M1, A-1-43 and A-10-33 was found.The expression of malignancy-associated antigens in multiple agminate Spitz naevi is at variance with their benign clinical course.

Notizen: Background  Hyperhidrosis (primary or secondary) is excessive sweating beyond that required to return body temperature to normal. It can be localized or generalized, commonly affecting the axillae, palms, soles or face, and can have a substantial negative effect on a patient's quality of life.Impact of disease  Objective evaluation comprising quantitative assessment (gravimetric and Minor's iodine starch test) and subjective evaluation (Dermatology Quality of Life Index and Hyperhidrosis Impact Questionnaire) allow accurate assessment of the impact of hyperhidrosis on patients.Botulinum toxin type A  Botulinum toxin type A acts by inhibiting the release of acetylcholine at the presynaptic membrane of cholinergic neurones. It has proved useful in treating a number of diseases relating to muscular dystonia and is now proving beneficial in treating hyperhidrosis. Clinical trials investigating botulinum toxin type A use in axillary and palmar hyperhidrosis show significant benefits with few side-effects reported, with a favourable impact also being seen on patient quality of life. Botulinum toxin type A injections are generally well-tolerated with beneficial results lasting from 4 to 16 months.Conclusions  Botulinum toxin type A injections are an effective and well-tolerated treatment for hyperhidrosis. This paper proposes a positioning of this treatment along with current established treatments, and highlights the role of botulinum toxin type A as a valuable therapy for the treatment of hyperhidrosis.

Notizen: Summary Schwannomas are benign solitary tumours of the peripheral nerve sheaths. The occurrence of multiple schwannomas usually implies hereditary disease. The most frequent syndrome associated with multiple schwannomas is neurofibromatosis type 2 (NF2), which is defined by bilateral vestibular schwannomas. Schwannomatosis is a distinct disease characterized by multiple pathologically proven schwannomas in the absence of vestibular schwannomas. It is not currently known if the presence of multiple schwannomas confined to a limb may represent a mosaic form of NF2 or a distinct disease, because mutation analysis of these tumours is not routinely performed. We report a 31-year-old patient who presented with multiple slowly growing subcutaneous tumours on his left arm. His family history was negative for cutaneous tumours or central nervous system disease, and he did not have additional features of NF2. Magnetic resonance tomography and ophthalmological examination excluded vestibular schwannoma and eye stigmata of NF2. After resection of three tumours, histological analysis confirmed the diagnosis of benign schwannomas. Molecular genetic analysis by temperature gradient gel electrophoresis and microsatellite marker analysis demonstrated two distinct mutations of the NF2 gene (NF2) in two different schwannomas, with concomitant loss of heterozygosity in both tumours. In contrast, neither normal skin nor peripheral blood lymphocytes revealed mutations of NF2. The clinical and molecular genetic findings suggest that the diagnosis in our patient is schwannomatosis rather than segmental NF2 because the mutations found in different tumours were not identical. The possibility of a localized predisposition for the acquisition of NF2 mutations is discussed.

Notizen: Summary Background  Botulinum toxin type A (BTX-A) has been shown to be a safe and effective treatment for primary focal hyperhidrosis. However, the effect of BTX-A therapy on quality of life (QOL) in patients with this condition has only recently begun to be studied in controlled clinical trials. Objectives  To assess the impact on QOL of BTX-A treatment in patients with bilateral primary axillary hyperhidrosis. Methods  A multicentre, randomized, double-blind, placebo-controlled trial enrolled 320 patients who exhibited persistent, bilateral, primary axillary hyperhidrosis sufficient to interfere with daily activities. These patients were treated with either 50 U BTX-A (Botox ® , Allergan, Inc., Irvine, CA, U.S.A.) or placebo in each axilla. QOL was assessed using the Hyperhidrosis Impact Questionnaire © (HHIQ) at baseline and 1, 4, 8, 12 and 16 weeks post-treatment, as well as the Medical Outcomes Trust Short Form-12 Health Survey © (SF-12) at baseline and 16 weeks post-treatment. Results  At baseline, participants reported a marked negative impact of hyperhidrosis on various measures, including emotional status, ability to participate in daily and social activities, productivity at work and number of clothing changes per day. During the post-treatment period, statistically and clinically significantly greater improvements in all of these parameters were observed for the BTX-A group compared with the placebo group ( P  〈 0·01). The BTX-A group improvements were observed within 1 week of treatment, and were sustained with little or no decline throughout the 16-week follow-up period. Compared with the baseline HHIQ responses regarding treatment history, BTX-A treatment resulted in a greater level of overall treatment satisfaction than did many other hyperhidrosis treatments. In addition, patients treated with BTX-A exhibited statistically significantly greater improvement in the physical component summary score of the SF-12 at 16 weeks than did placebo-treated patients ( P  ≤ 0·019). Conclusions  Hyperhidrosis is associated with a substantial QOL burden; however, QOL is markedly improved with BTX-A treatment.