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Background The p.E318K variant of the Melanocyte Inducing Transcription Factor (MITF) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is not entirely defined. The purpose of our study was to assess the association between the p.E318K germline variant and clinic-phenotypical features of MITF+ compared to non-carriers (MITF−), including dermoscopic findings of melanomas and dysplastic nevi. Methods we retrospectively analyzed a consecutive series of 1386 patients recruited between 2000 and 2017 who underwent genetic testing for CDKN2A, CDK4, MC1R and MITF germline variants in our laboratory for diagnostic/research purposes. The patients were probands of melanoma-prone families and apparently sporadic single or multiple primary melanoma patients. For all, we collected clinical, pathological information and dermoscopic images of the histopathologically diagnosed melanomas and dysplastic nevi, when available. Results After excluding patients positive for CDKN2A/CDK4 pathogenic variants and those affected by non-cutaneous melanomas, our study cohort comprised 984 cutaneous melanoma patients, 22 MITF+ and 962 MITF−. MITF+ were more likely to develop dysplastic nevi and multiple primary melanomas. Nodular melanoma was more common in MITF+ patients (32% compared to 19% in MITF−). MITF+ patients showed more frequently dysplastic nevi and melanomas with uncommon dermoscopic patterns (unspecific), as opposed to MITF− patients, whose most prevalent pattern was the multicomponent. Conclusions MITF+ patients tend to develop melanomas and dysplastic nevi with histopathological features, frequency and dermoscopic patterns often different from those prevalent in MITF− patients. Our results emphasize the importance of melanoma prevention programs for MITF+ patients, including dermatologic surveillance with digital follow-up.

This chapter deals with the etiology of disability in leprosy. The different dimensions of disability are introduced using the WHO International Classification of Functioning, Disability, and Health (ICF) framework. The major cause for disability is nerve function impairment (NFI). Nerve function assessment is briefly discussed, namely voluntary muscle testing and sensory testing with monofilaments. Distinction is made between primary and secondary impairments resulting from NFI. Simple exercises can prevent and overcome joint contractures as an often avoidable result of NFI. A major complication of loss of protective sensation are plantar ulcers. Basic principles regarding prevention of plantar ulcers and care for ulcers are presented.

The permanent paralytic deformities due to leprosy neuropathy can all be surgically corrected. Tendon transfer surgery can correct the muscular imbalance that may result from ulnar, median, and common peroneal paralysis. Surgery should be performed by surgeons who have had some training with a surgeon experienced in leprosy reconstructive surgery. Pre- and postoperative therapy by experienced therapists is equally important. Rehabilitation should also involve the social consequences of leprosy, e.g., inappropriate community attitudes, loss of work, etc., as they also often contribute to “disability.” Community-based rehabilitation involvement should be included in leprosy control projects to raise awareness, change attitudes, and ensure that leprosy-affected people can take and/or maintain their rightful places in society.

Background: CD4+/CD56+ hematodermic neoplasm (HN) (blastic natural killer (NK)-cell lymphoma) is a rare entity characterized by dense, monomorphous infiltrates of medium-sized cells with blastic appearance and a characteristic immunophenotype (positivity for CD4, CD56 and CD123). The combination of CD4 and CD56 positivity is thought to be so striking that it has been used to name this entity. Methods: Three cases of HN with ambiguous phenotypic profile were included in this study. In all cases, phenotypic, molecular and in situ hybridization studies were carried out. Results: All three cases showed an aberrant phenotype with negativity for CD4. Conclusions: CD4-negative or CD56-negative cases of HN have been rarely reported in the literature and represent a diagnostic problem. Our three cases confirm that CD4 is not always expressed in these neoplasms. The term 'CD4+/CD56+ hematodermic neoplasm' adopted in the World Health Organization-European Organization for Research and Treatment of Cancer classification of cutaneous lymphomas may be misleading and should probably be revised in the light of all data published in the literature. © Blackwell Munksgaard 2008.

Dear Editor, Genital lesions are estimated to occur in 30–40% of patients with psoriasis, with a slight predominance in men. Less frequently they are the first and rarely the sole presentation of this common inflammatory disease in only 2–5% of affected patients.1 Therefore, its differential diagnosis can be wide, including mainly inflammatory diseases. As genital psoriasis is also a source of anxiety and sexual embarrassment, with other quality of life limitations, mostly in young patients, a fast and preferably noninvasive diagnosis is needed.2 Dermoscopy and reflectance confocal microscopy (RCM) have been developed in recent years, aiming for a higher accuracy in in vivo diagnosis. They can be of particular interest as complementary tools in the examination of sensitive areas like genital skin.3-6 The aim of our study was to describe RCM features of biopsy‐proven psoriatic balanitis in patients with no other skin or nail involvement from psoriasis, with dermoscopic and histopathological correlation. Seven male patients were consecutively recruited (mean 36 years of age, range 26–53). The genital lesions were first assessed using dermoscopy and RCM (Table 1). A punch biopsy from each suspicious glans lesion was also performed for histopathological examination. RCM imaging was obtained using a near infrared, reflectance mode, confocal laser scanning microscope (VivaScope1500®; Caliber I.D., Rochester, NY, U.S.A.).

Background: Deep learning convolutional neural networks (CNN) may facilitate melanoma detection, but data comparing a CNN's diagnostic performance to larger groups of dermatologists are lacking.Methods: Google's Inception v4 CNN architecture was trained and validated using dermoscopic images and corresponding diagnoses. In a comparative cross-sectional reader study a 100-image test-set was used (level-I: dermoscopy only; level-II: dermoscopy plus clinical information and images). Main outcome measures were sensitivity, specificity and area under the curve (AUC) of receiver operating characteristics (ROC) for diagnostic classification (dichotomous) of lesions by the CNN versus an international group of 58 dermatologists during level-I or -II of the reader study. Secondary end points included the dermatologists' diagnostic performance in their management decisions and differences in the diagnostic performance of dermatologists during level-I and -II of the reader study. Additionally, the CNN's performance was compared with the top-five algorithms of the 2016 International Symposium on Biomedical Imaging (ISBI) challenge.Results: In level-I dermatologists achieved a mean (±standard deviation) sensitivity and specificity for lesion classification of 86.6% (±9.3%) and 71.3% (±11.2%), respectively. More clinical information (level-II) improved the sensitivity to 88.9% (±9.6%, P = 0.19) and specificity to 75.7% (±11.7%, P < 0.05). The CNN ROC curve revealed a higher specificity of 82.5% when compared with dermatologists in level-I (71.3%, P < 0.01) and level-II (75.7%, P < 0.01) at their sensitivities of 86.6% and 88.9%, respectively. The CNN ROC AUC was greater than the mean ROC area of dermatologists (0.86 versus 0.79, P < 0.01). The CNN scored results close to the top three algorithms of the ISBI 2016 challenge.Conclusions: For the first time we compared a CNN's diagnostic performance with a large international group of 58 dermatologists, including 30 experts. Most dermatologists were outperformed by the CNN. Irrespective of any physicians' experience, they may benefit from assistance by a CNN's image classification.Clinical trial number: This study was registered at the German Clinical Trial Register (DRKS-Study-ID: DRKS00013570; https://www.drks.de/drks_web/). (Less)

In the WHO classification, subcutaneous panniculitis-like T-cell lymphoma (SPTL) is defined as a distinct type of T-cell lymphoma with an aggressive clinical behavior. Recent studies suggest that distinction should be made between SPTL with an α/β T-cell phenotype (SPTL-AB) and SPTL with a γδ T-cell phenotype (SPTL-GD), but studies are limited. To better define their clinicopathologic features, immunophenotype, treatment, and survival, 63 SPTL-ABs and 20 SPTL-GDs were studied at a workshop of the EORTC Cutaneous Lymphoma Group. SPTL-ABs were generally confined to the subcutis, had a CD4-, CD8+, CD56-, βF1+ phenotype, were uncommonly associated with a hemophagocytic syndrome (HPS; 17%), and had a favorable prognosis (5-year overall survival [OS]: 82%). SPTL-AB patients without HPS had a significantly better survival than patients with HPS (5-year OS: 91% vs 46%; P < .001). SPTLGDs often showed (epi)dermal involvement and/or ulceration, a CD4-, CD8-, CD56 +/-, βF1- T-cell phenotype, and poor prognosis (5-year OS: 11%), irrespective of the presence of HPS or type of treatment. These results indicate that SPTL-AB and SPTL-GD are distinct entities, and justify that the term SPTL should further be used only for SPTL-AB. SPTL-ABs without associated HPS have an excellent prognosis, and multiagent chemotherapy as first choice of treatment should be questioned. © 2008 by The American Society of Hematology.

We investigated the feasibility and diagnostic agreement of a virtual slide system (VSS) in teledermatopathology. Forty-six biopsy specimens from inflammatory skin diseases were selected and scanned with a VSS at the Research Unit of Teledermatology, Medical University of Graz, Graz, Austria. Images were stored oil a virtual slide server on which a specific Web application suited for telepathology (http://telederm.org/research/dermatopath/) runs. Twelve teleconsultants from 6 different Countries reviewed the 46 cases, working directly oil the Web application. Telediagnoses agreed with gold standard and conventional diagnosis with an average of 73% and 74%, respectively. Complete concordance among all teleconsultants with gold standard and conventional diagnosis was found in 20% of the cases. In 10 cases in which complete clinical data were missing, the average agreement of telediagnosis with gold standard diagnosis and conventional diagnosis decreased to 65% and 66%, respectively. Only 3 of 4 cases of inflammatory skin diseases were correctly diagnosed remotely with VSS. The system that we have used, despite its usability, is not completely feasible for teledermatopathology of inflammatory skin disease. Moreover, the performance seems to have been influenced by the availability of complete clinical data and by the intrinsic difficulty of the pathology of inflammatory skin diseases. (c) 2007 Elsevier Inc. All rights reserved. RI Soyer, H. Peter/E-6000-2010

It is well documented that most dermoscopic colours and patterns of melanocytic naevi correspond to specific histopathological substrates.1 The most common chromophore in melanocytic naevi is melanin, which gives rise to black, brown, grey and blue colour when located in the upper epidermis, dermo‐epidermal junction, upper dermis, and deep dermis respectively.1 Among the four most common pattern of naevi are the network (pigmented crossing lines), globular (clods), starburst (peripheral lines) and structureless blue pattern.1-3

AIMS: Aggressive epidermotropic cutaneous CD8+ lymphoma is currently afforded provisional status in the WHO classification of lymphomas. An EORTC Workshop was convened to describe in detail the features of this putative neoplasm and evaluate its nosological status with respect to other cutaneous CD8+ lymphomas.METHODS & RESULTS: Sixty-one CD8+ cases were analysed at the workshop; clinical details, often with photographs, histological sections, immunohistochemical results, treatment and patient outcome were discussed & recorded. Eighteen cases had distinct features and conformed to the diagnosis of aggressive epidermotropic cutaneous CD8+ lymphoma. The patients typically present with widespread plaques and tumours, often ulcerated and haemorrhagic, and have striking pagetoid epidermotropism histologically. A CD8+ CD45RA+ CD45RO- CD2- CD5- CD56- phenotype, with 1 or more cytotoxic markers was found in 7/18 with a very similar phenotype in the remainder.. The tumours seldom involve lymph nodes but mucosae and central nervous system involvement are not uncommon. The prognosis is poor, with a median survival of 12 months. Examples of CD8+ mycosis fungoides, lymphomatoid papulosis and Woringer-Kolopp presented the typical features well documented in the CD4+ forms of those diseases.CONCLUSIONS: Aggressive Epidermotropic Cutaneous CD8+ Lymphoma is a distinct lymphoma that warrants inclusion as a distinct entity in future revisions of lymphoma classifications. This article is protected by copyright. All rights reserved.

BACKGROUND Clark nevi (atypical melanocytic nevi) can be considered as risk markers and potential precursors of melanoma. The authors report on the morphologic changes of an atypical nevus by dermoscopic follow-up examination over a 7-year period. CASE REPORT A 43-year-old man had a brown macule on his back, sized 5 mm, with an irregular shape, clinically and dermoscopically diagnosed as an equivocal melanocytic lesion. Dermoscopically during the initial examination, a predominant reticular pattern with peripheral eccentric hyperpigmentation in the lower portion of the lesion could be seen. After 7 months, the area of peripheral eccentric hyperpigmentation had regressed, and after 4.5 years the atypical pigment network had almost disappeared. After 7 years of follow-up, a diffuse area of hypopigmentation and a residual light brown pigmentation were detectable. The histopathologic diagnosis was consistent with an atypical junctional nevus with regression with features of a Clark nevus. CONCLUSION Based on our observation, even a dermoscopically atypical nevus may undergo regression as documented by long-term dermoscopic follow-up.

Background Various dermoscopic features are usually associated with benign melanocytic lesions. Our objective was to determine frequency and extension of benign dermoscopic features (BDF) in melanoma. Methods Retrospective review of dermoscopic images of a consecutive series of 516 histopathologically proven melanomas collected in 6 years in Graz. Correlation of BDF with mean Breslow thickness, with presence/absence of associated benign nevus component and with the pre-operative clinico-dermoscopic diagnosis, as reported on the original histopathologic reports. Results In addition to melanoma specific criteria, 42% of melanomas showed BDF. In 12.3% cases, the benign features occupied more than the half of the lesion. The BDF typical pigment network, homogeneous pattern and regular globules/cobblestone pattern had the highest frequency. BDF were associated with relatively thinner melanomas (mean Breslow thickness of 0.51 mm). The presence of BDF was observed in 67.1% of histopathologically documented nevus-associated melanoma and in 35.7% of melanoma de novo. A pre-operative clinico-dermoscopic diagnosis of melanoma was achieved in only 54.1% of cases displaying BDF. Conclusion A significant proportion of melanomas may exhibit BDF. Clinicians should be aware of the presence of BDF in melanoma as possible diagnostic pitfall.

It has been suggested that both negative pigment network (NPN) and shiny white streaks (SWS) were related to an increase of dermal collagen. To study precisely the dermoscopic-histopathologic correlation of NPN and SWS, we have performed a dermoscopic-pathological correlation study. A total of 25 skin lesions dermoscopically characterized by the presence of NPN and/or SWS, including histopathologically confirmed dermatofibroma (2), Spitz nevus (3), compound nevus (6), dysplastic nevus (7), and melanoma (7), were evaluated for the presence of NPN, SWS, and blue-white veil. The histopathologic features such as orthokeratosis, orthokeratosis plus nests of pigmented melanocytes at the junction, hypergranulosis, hypergranulosis plus nests of pigmented melanocytes at the junction, epidermal invagination plus orthokeratosis, fibrosis, lamellar fibrosis, and elongation and bridging of rete ridges were evaluated. We found a disagreement in 80% of skin lesions between NPN and fibrosis (P = 0.02). For SWS, a significant agreement emerged with hypergranulosis (76%; P = 0.01), and the same occurred with fibrosis (80%; P = 0.01). Moreover, blue-white veil also displayed a significant agreement with hypergranulosis (68%; P = 0.04). Our findings confirm the correlation of SWS with fibrosis, whereas a clear-cut histopathologic substrate of NPN could not be established.

Background: Early excision is the only strategy to reduce melanoma mortality, but unnecessary excision of benign lesions increases morbidity and healthcare costs. Objective: To assess accuracy in melanoma detection based on number-needed-to-excise (NNE) values over a 10-year period. Methods: Information was retrieved on all histopathologically confirmed cutaneous melanomas or melanocytic nevi that were excised between 1998 and 2007 at participating clinics. NNE values were calculated by dividing the total number of excised lesions by the number of melanomas. Analyses included changes in NNE over time, differences in NNE between specialized clinical settings (SCS) versus non-specialized clinical settings (NSCS), and patient factors influencing NNE. Results: The participating clinics contributed a total of 300,215 cases, including 17,172 melanomas and 283,043 melanocytic nevi. The overall NNE values achieved in SCS and NSCS in the 10-year period were 8.7 and 29.4, respectively. The NNE improved over time in SCS (from 12.8 to 6.8), but appeared unchanged in NSCS. Most of the effect on NNE in SCS was due to a greater number of excised melanomas. Higher NNE values were observed in patients younger than 40 years and for lesions located on the trunk. Limitations: No data concerning the use of dermatoscopy and digital monitoring procedures were collected from the participating centers. Conclusion: Over the 10-year study period, accuracy in melanoma detection improved only in specialized clinics maybe because of a larger use of new diagnostic techniques such as dermatoscopy. (J Am Acad Dermatol 2012;67:54-9.)

Background: We tested the relevance of clinical information in the histopathologic evaluation of melanocytic skin neoplasm (MSN). Methods: Histopathologic specimens from 99 clinically atypical MSN were circulated among ten histopathologists; each case had clinical information available in a database with a five-step procedure (no information; age/sex/location; clinical diagnosis; clinical image; dermoscopic image); each step had a histopathologic diagnosis (D1 through D5); each diagnostic step had a level of diagnostic confidence (LDC) ranging from 1 (no diagnostic certainty) to 5 (absolute diagnostic certainty). The comparison of the LDC was employed with an analysis of variance (ANOVA) for repeated measures. Findings: In D1 (no information), 36/99 cases (36.3%) had unanimous diagnosis; in D5 (full information available), 51/99 cases (51.5%) had unanimous diagnosis (p for difference between proportions

Background The dermoscopic diagnosis of cutaneous melanoma (CM) may be difficult because some CM lack specific dermoscopic features for melanoma diagnosis. Objective To evaluate whether a diagnosis of CM could be achieved using the classic dermoscopic melanoma-specific criteria, we conducted a retrospective multicenter study of 508 CM samples. Methods All the dermoscopic images were analyzed to identify the dermoscopic criteria found in dermoscopically difficult melanomas (DDM) and to examine the possible relation of dermoscopic diagnosis with respect to the difficulty of the dermoscopic diagnosis and the melanoma thickness. Results A significant percentage of melanomas, 89 of 508 (17.5%), were DDM. The criteria leading to a significant increased risk of DDM were presence of streaks [odds ratio (OR), 2.26; 95% confidence interval (CI), 1.15-4.47), absence or presence of regular pigmentation (OR, 3.41; 95% CI, 1.70-6.85), absence of a blue-whitish veil (OR, 4.04; 95% CI, 2.33-6.99), absence of regression structures (OR, 4.31; 95% CI, 2.42-7.66), and the presence of hypopigmentation (OR, 2.61; 95% CI, 1.49-4.58). Conclusions A significant number of melanomas defy even dermoscopic diagnosis. Only a meticulous comparative and interactive process based on an assessment of all the individual's other nevi ("ugly ducking" sign) and a knowledge about recent changes can lead to the recognition of DDM.

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Background: Melanocytic nevi with eccentric foci of hyperpigmentation ("Bolognia sign") can be considered as a melanoma-simulating type of acquired melanocytic nevus. We report on the morphologic changes of this type of melanocytic nevus over a 39-month period of dermoscopic follow-up. Observations: A 5-year-old girl had a 4-mm brown papule with a peripheral blue-black area on her right upper arm. The eccentric focus of the hyperpigmentation corresponded dermoscopically to a blue-gray area of pigmentation associated with irregular brown-black globules or dots and partially with a superficial black network. After 39 months, a globular type of acquired melanocytic nevus was detectable, which clinically and dermoscopically appeared to be completely benign. A nearly identical situation was observed in 5 other melanocytic nevi, underlining the involution of the pigmented foci in these nevi. The histopathologic diagnoses of 2 lesions were consistent with a compound type of acquired melanocytic nevus with eccentric foci of hyperpigmentation. Conclusions: Dermoscopy allows identification of a morphologic pathway of modifications, probably typical for this type of melanocytic nevus in children, and therefore enables avoidance of surgical excision with attendant hypertrophic scarring in children. Conversely, in adults, when dermoscopic follow-up of melanocytic nevi reveals eccentric foci of hyperpigmentation, surgical excision of the lesion is indicated. ©2006 American Medical Association. All rights reserved.

A non-commercial teledermatology network based on store-and-forward operation was established in April 2002. The aim was to create an easy-to-use platform for teleconsultation services, where physicians could seek diagnostic advice in dermatology from a pool of expert consultants and where they could present and discuss challenging dermatology cases with special emphasis on diagnosis and therapy. An online moderated discussion forum was added in October 2003. During the first two years, 348 health-care professionals from 45 countries registered to use the Website. A total of 783 requests for consultations were answered; 285 requests concerned pigmented skin lesions, 440 requests were from the whole range of clinical dermatology and 58 requests were about non-melanoma skin cancer. Of a total of 133 requests analysed, 80 (60%) were answered within one day, 47 (35%) within one week, five (4%) within two weeks and one (1%) consultation was answered in more than two weeks. Our experience with a discretionary, non-commercial, multilingual Website for open-access teleconsulting in dermatology appears to be successful. The Website represents an example of user-generated content, together with active interaction between users, who can present and discuss cases with remote colleagues.

Background: Antibodies to stratified epithelia characterize chronic ulcerative stomatitis, an entity that very closely resembles erosive lichen planus both clinically and histologically. These antibodies are directed against a 70-kd antigen. Objective: Our aim was to verify whether antibodies to stratified epithelia are present in patients with common lichen planus. Patients and methods: One hundred thirty-eight patients with various forms of lichen planus were studied. Indirect immunofluorescence was performed on both monkey esophagus and HEp2-2000 cells. Immunoblotting was done with cultured keratinocytes used as the source antigen. Results: Nineteen patients had antibodies to stratified epithelia (in 9 directed against an antigen of 70 kd). Forty-eight patients had circulating antibodies detected by indirect immunofluorescence on both monkey esophagus and HEp2-2000 cells (in 7 directed against an antigen of 70 kd). Indirect immunofluorescence was positive only on HEp2-2000 cells in 21 patients. Indirect immunofluorescence was negative in 50 patients on both HEp2-2000 cells and monkey esophagus. None of the last 71 patients had antibodies directed to an antigen of 70 kd. Limitations: This is a serological study; results from direct immunofluorescence studies would be interesting. Conclusion: Antibodies to stratified epithelia directed to an antigen of 70 kd are not exclusive to chronic ulcerative stomatitis, but are also present in some patients with lichen planus. © 2007 American Academy of Dermatology, Inc.

ejd.2011.1405 Auteur(s) : Alessandro Pileri1 alessandropileri@hotmail.it, Alexandra Maria Giovanna Brunasso2, Hemma Tilz2, Peter Wolf2, Cesare Massone2 1 Division of Dermatology, University of Bologna, Via Massarenti 1, Bologna, Italy 2 Department of Dermatology, Medical University of Graz, Auenbruggerplatz 8, Graz, Austria Drug rash with eosinophilia and systemic symptoms (DRESS) is a rare, life-threatening, non-dose related and unpredictable adverse drug reaction manifesting with exanthema, eosinophilia, [...]

PubMed ID: 15839749, [No abstract available]