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Background: Follow-up protocols in patients after complete resection of high-risk cutaneous tumors lead to a discovery of metastases in very early stages, but surgery on non-palpable lesions proves to be challenging., Patients and Methods: In this monocenter retrospective study 39 patients suffering from malignant skin tumors with suspicious non-palpable lesions located in the lymph nodes (90%) or deep subcutaneously/intramuscularly (10%) were included. In 21 patients the lesions were excised under ultrasound guidance, and 18 patients received a wire marking before surgery. Both patient groups were compared regarding successful intraoperative finding of the lesion, duration of the procedure, and complications., Results: Wire marking led to a significantly higher intraoperative detection rate of 100% versus 76% (p < 0.05). The average time needed for the complete procedure (p = 0.91) or the rate of complications (p = 0.70) did not differ significantly between both groups. The size of the malignant lesions successfully removed by wire marking was significantly smaller (p < 0.05). Of all 34 detected lesions only 20 (58.8%) were confirmed to be malignant., Conclusions: Wire marking increases the detection rate of non-palpable suspicious subcutaneous or lymphatic lesions. It leads to earlier diagnosis of metastasis but also allows to avoid unnecessary complete lymph node dissection., (© 2024 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by Wiley‐VCH GmbH on behalf of Deutsche Dermatologische Gesellschaft.)

Prior to the first international consensus classification published in 1993, the clinical distinction between erythema multiforme (EM), Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) had been subject to uncertainty and controversy for more than a century. Based on this classification, the three conditions are defined by the morphology of the individual lesions and their pattern of distribution. Etiopathogenetically, the majority of EM cases is caused by infections (primarily herpes simplex virus and Mycoplasma pneumoniae), whereas SJS/TEN are predominantly triggered by drugs. The SCORTEN (score of toxic epidermal necrolysis) can and should be used to assess disease prognosis in patients with SJS/TEN. While supportive treatment is generally considered sufficient for EM, there is still uncertainty as to the type of systemic therapy required for SJS/TEN. Given the lack of high-quality therapeutic trials and (in some cases) conflicting results, it is currently impossible to issue definitive recommendations for any given immunomodulatory therapy. While there is always a trade-off between rapid onset of treatment-induced immunosuppression and an uptick in infection risk, there has been increasing evidence that cyclosporine in particular may be able to halt disease progression (i.e. skin detachment) and lower mortality rates. Assistance in diagnosis and management of the aforementioned conditions may be obtained from the Center for the Documentation of Severe Skin Reactions (dZh) at the Department of Dermatology, University Medical Center, Freiburg, Germany., (© 2020 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Ichthyoses are a group of rare genetic skin disorders that pose numerous clinical challenges, in particular with respect to the correct diagnosis and appropriate management. The present update of the German ichthyosis guidelines addresses recent diagnostic advances that have resulted in the Sorèze consensus classification. In this context, we provide an updated diagnostic algorithm, taking into account clinical features as well as the molecular genetic basis of these disorders. Moreover, we highlight current therapeutic approaches such as psychosocial support, balneotherapy, mechanical scale removal, topical therapy, and systemic retinoid therapy. General aspects such as the indication for physical therapy, ergotherapy, or genetic counseling are also discussed. The present update was consented by an interdisciplinary consensus conference that included dermatologists, pediatricians, human geneticists, and natural scientists as well as representatives of the German patient support organization Selbsthilfe Ichthyose e. V., (© 2017 The Authors | Journal compilation © Blackwell Verlag GmbH, Berlin.)

Genodermatoses comprise a clinically heterogeneous group of mostly devastating disorders affecting the skin. To date, treatment options have in general been limited to symptom relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. The present review revisits the advantages and drawbacks of engineered nuclease tools currently available: zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), meganucleases, and - the most innovative - clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas) nuclease 9 (CRISPR/Cas9) system. A mechanistic overview of the different modes of action of these programmable nucleases as well as their significance for causal therapy of genodermatoses is presented. Remaining limitations and challenges such as efficient delivery and off-target activity are critically discussed, highlighting both the past and future of gene therapy in dermatology., (© 2017 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Background: Certain melanoma histotypes carry a worse prognosis than others. We aimed to identify patient related factors associated with specific melanoma histotypes., Patients and Methods: Single center study including 347 melanoma patients, prospectively assessed for 22 variables leading to a database of more than 7,600 features., Results: Melanomas were histologically categorized as superficial spreading (SSM, 70.6%), nodular (NM; 12.7%), acrolentiginous (ALM; 4.0%), lentigo maligna (LMM; 3.8%), or unclassified melanoma (UCM; 8.9%). Well recognized melanoma risk indicators (i. e. many atypical nevi, freckles, previous melanoma), were significantly associated with SSM and LMM histotypes. NM and ALM patients carried significantly less common and/or atypical nevi. NM were mostly self-detected or detected by relatives. In contrast, SSM, LMM, and ALM were most frequently detected by dermatologists. NM and UCM were preferentially located on poorly observable sites, SSM on the lower limbs, ALM on plantar sites, and LMM on the head and neck. ALM and LMM patients were significantly older than other patients. A multinomial logistic model was designed to predict a certain melanoma histotype (overall accuracy 81%), which could be helpful to focus the attention of clinicians or may be integrated into fully automated diagnostic algorithms., Conclusions: Melanoma histotypes show significant differences regarding patients' characteristics., (© 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Xeroderma pigmentosum (XP) is an autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or in translesional DNA synthesis. At the age of eight, patients already develop their first skin cancers due to this DNA repair defect. In contrast, in the Caucasian population the first tumor formation in UV exposed skin regions occurs at a mean age of 60. The clinical picture among patients suffering from XP is highly diverse and includes signs of accelerated skin aging, and UV-induced skin cancers, as well as ophthalmologic and neurological symptoms. Patients should therefore receive interdisciplinary care. This includes dermatologists, ophthalmologists, ENT specialists, neurologists, and human geneticists. Patients with XP are clinically diagnosed, but this may be supported by molecular-genetic and functional analyses. These analyses allow pinpointing the exact disease-causing gene defect (complementation group assignment, detection of the type and location of the mutation within the gene). The resulting information is already relevant to predict the course of disease and symptoms and probably will be utilized for individualized therapeutic approaches in the future. Recently, enhanced repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons by certain antibiotics could be demonstrated., (© 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and genetic or hereditary forms exist. Differentiation between acquired and hereditary forms is essential for adequate treatment and patient counseling. Acquired forms of PPK have many causes. A plethora of mutations in many genes can cause hereditary PPK. In recent years several new causative genes have been identified. Individual PPK may be quite heterogeneous with respect to presentation and associated symptoms. Since the various hereditary PPK - like many other monogenic diseases - exhibit a very low prevalence, making of the correct diagnosis is challenging and often requires a molecular genetic analysis. Knowledge about the large but quite heterogeneous group of hereditary PPK is also important to dissect the molecular mechanisms of epidermal differentiation on palms and soles, ultimately leading to targeted corrective therapies in the future., (© 2014 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.)

Tumorigenesis is a multi-step process in which exogenous and endogenous mutational events lead to accumulation of DNA mutations resulting in loss of cellular growth control. During the last decades knowledge about the molecular mechanisms of DNA mutations and the cellular systems that counteract the degeneration of the genome has increased rapidly. This expansion was driven in part by clinical and molecular investigations of syndromes with genetic in-stability. These syndromes are typically associated with an increased predisposition for tumor formation. They include nucleotide excision repair defective syndromes, mismatch repair defective syndromes, and the chromosome break-age syndromes. These diseases mirror vividly the phenotypic consequences of the failure of important cellular systems for the maintenance of the genomic integrity. They significantly contribute to our understanding of the molecular mechanisms of (skin) carcinogenesis and for the development of preventive and therapeutic anticancer strategies.

Background: Compared with intraoperative sentinel lymph node identification using blue dye only, the introduction of a hand-held gamma probe has improved the identification rates. In this retrospective study, further aspects related to the introduction of gamma-guided preparation are analysed in detail., Patients and Methods: 81 patients who underwent sentinel biopsy using the blue dye technique were compared to 247 patients whose operations were guided by blue dye and gamma probe., Results: After the introduction of radio-guided surgery, the sentinel node identification rate increased from 87.7 % to 99.2 % (P < 0.00001). The number of harvested sentinel lymph nodes increased from 1.4 +/- 0.9 to 1.8 +/- 0.09 (P < 0.00001). The "clinical false-negative rate" decreased from 15.8 % to 9.6 %. The percentage of positive completion lymphadenectomy decreased from 50 % to 24.6 %. The risk of postoperative seroma decreased as a consequence of gamma guided preparation (5.1 % versus 15 %, P = 0.01). Regarding overall survival and recurrence-free survival, there were no significant differences between both groups. The 5-year-probability of nodal basin failure was 7.9 % after negative sentinel biopsy and 25.3 % after positive sentinel lymphonodectomy plus consecutive completion lymphadenectomy., Conclusions: Combined application of blue dye and gamma-probe improved sensitivity and decreased the risk of postoperative seroma. The probability of recurrence and survival was not influenced by the technique of intraoperative sentinel node identification.