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We report the case of an 8-year-old child with subungual exostosis, whose diagnosis was suspected on the basis of dermoscopic findings and subsequently confirmed by X-ray and histopathology.

Importance: To date, no dermoscopic features have been described for the diagnosis of primary cutaneous B-cell lymphoma (PCBCL). This tool might be helpful for the clinical differential diagnosis in the context of single erythematous nodules of the skin. Observations: Ten cases of PCBCL, presenting clinically as solitary red/pinkish nodules, were retrospectively retrieved. Patient data were collected along with dermoscopic and histopathological features of each lesion. Most lesions (9/10) showed white circles with a salmon-colored background/area (6 lesions), scales (7 lesions), arborizing vessels (5 lesions) or a polymorphous vascular pattern (2 lesions). Histology revealed a cutaneous marginal zone lymphoma in 6 lesions, a follicle center lymphoma in 2 lesions and a diffuse large B-cell lymphoma in 2 lesions. Conclusions and Relevance: Dermoscopic examination may be helpful for improving the clinical recognition of PCBCL although skin biopsy remains mandatory.

BACKGROUND Pink skin tumours are difficult to differentiate, clinically and dermoscopically. In previous studies, mainly focused on pigmented lesions, pattern analysis provided the best sensitivity and specificity values, as compared to other algorithms. These findings suggest that the global dermoscopic appearance, based on the evaluation of prevalent features, could represent a valuable and practical approach even when dealing with pink lesions. OBJECTIVE In this study, we aimed to evaluate the diagnostic accuracy of a new dermoscopic approach for pink tumours based on the prevalent criterion, as compared to a standard diagnostic method (Menzies algorithm). METHODS The databases of two referral centres were retrospectively evaluated to retrieve dermoscopic images of amelanotic/hypomelanotic skin lesions. Two experts in dermoscopy, blinded for the final diagnosis and for clinical and demographic information, evaluated separately dermoscopic pictures of 1000 lesions according to the Menzies score and to the prevalent criterion method. RESULTS According to the high sensitivity model of the Menzies score, 129 (12.9%) lesions were considered as non-suspicious (of which 16 were false negative) and 871 (87.1%) as suspicious (of which 212 were false positive), with 97.6% sensitivity and 34.8% specificity. According to the high specificity model, 370 (37%) lesions were evaluated as non-suspicious (of which 105 were false negative) and 630 (63%) as suspicious (of which 60 were false positive), with 84.4% sensitivity and 81.5% specificity. Concerning the prevalent criterion method, 316 (31.6%) lesions were evaluated as non-suspicious (of which 46 were false negative) and 684 (68.4) as suspicious (of which 55 were false positive), with 93.2% sensitivity and 83.1% specificity. CONCLUSIONS This study demonstrated that focusing on the prevalent dermoscopic features could allow to detect malignant pink tumours with similar sensitivity but higher specificity than using the conventional Menzies scoring system.

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Background Limited data on dermatoscopy of nodular/plaque-type T-/B-cell primary cutaneous lymphomas (PCLs) is available. Objective To describe dermatoscopic features of nodular/plaque-type PCLs, comparing them with those of clinical mimickers (pseudolymphomas, tumors, and inflammatory lesions) and investigating possible differences according to histologic subtypes. Methods Participants were invited to join this retrospective, multicenter case-control study by submitting histologically/immunohistochemically confirmed instances of nodular/plaque-type PCLs and controls. Standardized assessments of the dermatoscopic images and comparative analyses were performed. Results A total of 261 lesions were included (121 PCLs and 140 controls). Orange structureless areas were the strongest PCL dermatoscopic predictor on multivariate analysis compared with tumors and noninfiltrative inflammatory dermatoses. On the other hand, a positive association was found between PCLs and either unfocused linear vessels with branches or focal white structureless areas compared with infiltrative inflammatory dermatoses, whereas white lines were predictive of PCLs over pseudolymphomas. Differences in the vascular pattern were also seen between B- and T-cell PCLs and among B-cell PCL subtypes. Limitations Retrospective design and the lack of a dermatoscopic-pathologic correlation analysis. Conclusion Nodular/plaque-type PCLs display dermatoscopic clues, which may partially vary according to histologic subtype and whose diagnostic relevance depends on the considered clinical differential diagnoses.

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Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikiloderma and congenital neutropenia, which explains the recurrence of respiratory infections and risk of developing bronchiectasis. Patients are also prone to develop hematological and skin cancers. Here, we present the case of a patient, the only child of apparently unrelated Serbian parents, affected by PN resulting from the homozygous mutation NM_024598.3:c.243G>A (p.Trp81Ter) of USB1; early onset of poikiloderma (1 year of age) was associated with cutaneous mastocytosis. We also provide a review of the literature on this uncommon condition with a focus on dermatological findings.

Cutaneous squamous cell carcinoma (cSCC) is the second most frequent nonmelanoma skin cancer (NMSC). The majority of in situ cSCC [cSCC (Tis)] can be cured surgically, while local advanced and metastatic ones require other treatments, but there are no therapies approved by U.S. Food and Drug Administration (FDA). Available treatments for these stages included radiotherapy, chemotherapy as cisplatin, but responses to these treatments are usually of short duration. Programmed death-1 (PD-1) inhibitors (pembrolizumab, nivolumab, and cemiplimab) are an innovative immunologic treatment that now has been shown to be useful for the treatment of advanced cSCC. Nowadays, data about the response rate with the use of PD-1 inhibitors in cSCC are still few and, especially, the duration of the response after the start of treatment is short. Moreover, the number of cases is too small to express the beneficial effects of these treatments, although most data reported in the literature show quite good response rates. This review focused on some of the studies and associated results through an interesting research on search engines of all the cases about these systemic drugs, analyzing effects and side effects, and the research has been conducted considering published cases since March 2016 to October 2019.

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Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequencing of target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification and RNA analysis. We clinically and genetically investigated 281 patients, almost all pediatric cases, presenting with either NF1 (n = 150), only pigmentary features (caf&eacute, au lait macules with or without freckling, (n = 95), or clinical suspicion of other RASopathies or neurocutaneous disorders (n = 36). The causative variant was identified in 239 out of the 281 patients analyzed (85.1%), while 42 patients remained undiagnosed (14.9%). The NF1 and SPRED1 genes were mutated in 73.3% and 2.8% of cases, respectively. The remaining 8.9% carried mutations in different genes associated with other disorders. We achieved a molecular diagnosis in 69.5% of cases with only pigmentary manifestations, allowing a more appropriate clinical management of these patients. Our findings, together with the increasing availability and sharing of clinical and genetic data, will help to identify further novel genotype&ndash, phenotype associations that may have a positive impact on patient follow-up.

The use of reflectance confocal microscopy (RCM) for imaging the skin non-invasively has risen constantly during the last decade. One of the main fields of application is in skin cancer diagnosis and, in particular, melanoma diagnosis. Nowadays, RCM is regarded as a secondary level imaging tool, after clinical and dermoscopic examination. Several studies have investigated the diagnostic accuracy of RCM as compared to dermoscopic examination, and its value in enhancing early diagnosis of dermoscopic difficult melanomas. Its axial resolution and its non-invasive and easy clinical application represent the key features for the diffusion of this technique. Areas covered: The purpose of this paper was to review the principles behind RCM image acquisition as well as to describe and discuss key RCM features of melanoma. Moreover, we conducted a literature search in order to highlight the current available evidence about RCM sensitivity and specificity in the diagnosis of melanoma. Expert opinion: During the last decade, we have witnessed an increased interest in noninvasive imaging tools for the diagnosis of skin cancer. RCM is one of the most studied of a series of diagnostic methods emerging in the field of melanoma imaging. RCM is nowadays a well-established technique, integrated in the diagnostic armamentarium of the dermatologist in many referral centres. Most probably in the future, RCM will be more and more frequently available in tertiary referral centres, thus the knowledge of the pros and cons of the tool and its clinical applicability is of upmost importance in order to allow correct referrals with the final aim of improving diagnostic accuracy.

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Erosive pustular dermatosis of the scalp (EPDS) is an uncommon disease and primarily affects older men who have photo-damaged bald scalp, as was confirmed by our case series. EPDS is probably an overlooked disease, whose diagnosis is often missed because of a higher incidence of other cutaneous diseases affecting the same area and usually secondary to chronic actinic damage, such as actinic keratosis, basal cell carcinoma, and squamous cell carcinoma. For the first time, we report a case series of misdiagnosed EPDS with the aim of understanding why a diagnosis of EPDS was initially missed and try to give some tips to avoid future diagnostic delay.

The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease. Background: The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease.Objectives: The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa.Methods: We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer. We selected only articles reporting a link between nephrology and dermatology in pediatrics, and they are all included in this comprehensive review.Results: Kawasaki disease, Henoch-Schonlein purpura, systemic lupus erythematosus, Dent disease, subcutaneous fat necrosis, Langerhans cell histiocytosis, renal cell carcinoma, non-Hodgkin lymphoma, tuberous sclerosis complex and syndromes with increased risk for Wilms tumor, Fabry disease, nail-patella syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Adams-Oliver syndrome 1, Apert syndrome, Fanconi pancytopenia syndrome, Pallister-Hall syndrome, and Fanconi pancytopenia syndrome are all conditions in which there can be both nephrological and dermatological manifestations in children.Conclusions: We could not find any reports that focused attention on the link between nephrological and dermatological manifestations of the same disease in children. It is also important for clinicians to keep in mind that in what may appear to be an exclusively dermatological disease, there can be nephrological manifestations as part of the same disorder and vice versa.

Peroxisomal biogenesis disorders (PBD) are rare autosomal recessive disorders with various degrees of severity caused by hypomorphic mutations in 13 different peroxin (PEX) genes. In this study, we report the clinical and molecular characterization of a 9-years-old female presenting an apparently isolated pre-lingual sensorineural hearing loss (SNHL) and early onset Retinitis Pigmentosa (RP) that may clinically overlap with Usher syndrome. Genetic testing by clinical exome sequencing identified two variants in PEX1: the missense variant c.274G > C; p.(Val92Leu) that was already reported in a PBD patient, and the variant c.2140_2145dup; p.(Ser714_Gln715dup) which is a novel, non-frameshift variant, absent in control databases. On the basis of the molecular analysis, a thorough clinical examination revealed nail and dental abnormalities, a mild cognitive impairment, learning disabilities and poor feeding, apart from the retinal and audiological features initially identified. The clinical and molecular findings led us to the diagnosis of a mild form of PBD. This study further emphasizes that mild forms of PBD can be a differential diagnosis of Usher syndrome and suggests that patients with mild cognitive impairment associated to visual and hearing loss should perform a comprehensive mutation screening that includes PEX genes.

Dent disease 2 (DD2) is a rare X-Linked disorder characterized by proximal tubule dysfunction. It is considered as mild variant of Lowe Syndrome (LS) and both conditions are secondary to OCRL1 gene mutations.1Mutations in this gene drastically reduce (

Cutaneous vascular lesions (VLs) represent a very common reason for dermatologic consultation for patients. In most cases, VLs are benign and self-limiting. However, because they often mimic malignant skin tumors, their correct and prompt identification is very important in daily practice. Dermoscopy may play a key role in achieving that purpose. This article reviews current knowledge of dermoscopic features of the most frequent VLs.

Dermoscopy represents a new and effective tool that assists dermatologists in improving the accuracy of clinical diagnosis in onco-dermatology. The aim of this article is to provide an overview of the latest and important dermoscopic progress and observations in this ever-evolving field of dermatology.

Darier-Ferrand dermatofibrosarcoma protuberans (DFSP) is a locally aggressive fibrohistiocytic tumour with a low metastatic potential.(1) Because of its rarity, slow progression and lack of early clinical clues, the diagnosis of DFSP is often delayed. Classical DFSP clinically appeared like an indurated, irregularly-shaped plaques exhibiting flesh to reddish-brown colour. Some lesions also showed thin teleangectasia on the surface (Fig. 1, a). This article is protected by copyright. All rights reserved.

Although most melanocytic lesions can be diagnosed by histopathologists as benign or malignant with high confidence, a subset of morphologically ambiguous lesions does exist and still represents a significant problem for pathologists. These lesions have been defined as MELTUMP, i.e. melanocytic tumors of uncertain malignant potential. MELTUMP could be considered as a large cauldron in which melanocytic lesions with equivocal morphologic features fall into, including most benign lesions and a minority of melanomas, unfortunately recognizable only a posteriori for their unfavorable outcome. As a consequence of the lack of uniformity in the biologic behavior of melanocytic lesions belonging to the heterogeneous subset of MELTUMP, confusion and lack of agreement in the management of these difficult lesions is increasingly growing up. As most MELTUMP have a favorable prognosis we recommend a conservative approach, avoiding over treatment for this group of lesions.

Dermoscopy is a widely used technique whose role in the clinical (and preoperative) diagnosis of melanocytic and non-melanocytic skin lesions has been well established in recent years. The aim of this paper is to clarify the correlations between the "local" dermoscopic findings in melanoma and the underlying histology, in order to help clinicians in routine practice.

Introduction: Subungual exostosis (SE), the most common nail tumor of young adults, is a benign bony proliferation of the distal phalanx occurring beneath the nail. Misdiagnosis or late diagnosis frequently occurs and no dermoscopy features of this tumor were previously outlined. Material and Methods: To describe the dermoscopic appearance of SE, 10 patients with radiologically and histologically confirmed SE were retrospectively retrieved from our tertiary referral centers. Data regarding age, gender, time to diagnosis, clinical presentation, dermoscopic features, involved nail and history of trauma were recorded for each patient. Results: In our patients, clinical findings were similar to previous reports. Among the dermoscopic features, vascular ectasia was the most common finding (70%), followed by hyperkeratosis (60%), onycholysis (40%), and ulceration (30%). Conclusion: Dermoscopy could be a useful technique aimed at creating diagnostic suspicion of this benign nail condition, although X-ray examination and histopathology are mandatory for the diagnosis.

Lymphedematous areas are sites of regional immune destabilization depicting a typical example of an immunocompromised cutaneous district (ICD). This study evaluates the expression of some components of the skin innate immunity on lymphedematous limbs with the aim to clarify some facets of the ICD. Patients selected underwent two skin biopsies: One was obtained from the limb affected by lymphedema, another from the contralateral healthy limb. Expression of some components of the skin innate immunity was analyzed by reverse transcription–polymerase chain reaction. Stronger gene expression of Toll-like receptor 2 (TLR-2), human β-defensin 2 (HBD-2), desmoglein 1, desmoglein 3, matrix metallopeptidase 9 (MMP-9), and interleukin 10 (IL-10) was found in keratinocytes derived from the affected limb compared with that of keratinocytes derived from contralateral healthy limb. Downregulation of survivin and vasoactive intestinal polypeptide (VIP) gene expression was found in the affected limbs. No induction of IL-1α and tumor necrosis factor α (TNF-α) was detectable in keratinocyte cultures obtained from both lymphedematous and normal limbs. Different phases and components of skin innate immunity turned out to be altered in the lymphedematous sites. Molecular alterations were similar in all patients recruited in the study. These changes might favor the local appearance or progression of opportunistic diseases such as tumors, infections, and immune-mediated skin disorders.

Uncombable hair syndrome (pili trianguli et canaliculi) is a rare genetic disease characterized by unruly hair, whose diagnosis could be made through an easy test such as hair cross-sectioning typically showing triangular and oval shapes.

Melanoma in childhood is rare, and appears more commonly either in association with a preexisting (congenital) nevus, or with spitzoid features than de novo. Thus, problematic melanocytic lesions in children are essentially represented by congenital nevi and Spitz nevi that can be regarded as melanoma precursors and melanoma simulators, respectively. As a consequence, clinical and dermoscopic features of melanoma in children differ from those in an adult population. Herein we describe common clinical and dermoscopic features of problematic lesions in children, focusing on congenital and Spitz/Reed nevi, and including other problematic lesions, such as atypical, blue, acral, and scalp nevi.

The use of dermoscopy has offered a new morphological dimension of skin lesions and has provided an effective diagnostic tool to differentiate melanoma from other benign or malignant skin tumors but also to support the clinical diagnosis in general dermatology. The aim of this article is to provide an overview of the most recent and important advances in the rising world of dermoscopy.

We read with great interest the paper by Combalia etal recently appeared on Journal of European Academy of Dermatology(1) . The authors reported two cases of yellow urticaria related to liver cirrhosis, one due to hemochromatosis, and the other one to alcohol(1) . With a total of ten cases reported in literature by now, we considered relevant to report another case we recently came across. This article is protected by copyright. All rights reserved.

In order to enhance our knowledge of milk sheep rationing, 30 Sarda primiparous ewes, for which single birth was diagnosedby ultrasonography prior to lambing, were divided into two homogeneous groups (L-NSC and H-NSC) and fed isoproteicdiets containing different amounts of non-structural carbohydrates (NSC, 36 vs 40 % DM). The lambs wereweighed both at birth (between February and March 2002) and at sale (about one month later) in order to estimate milkproduced by their mothers during the lactation period, by using a specific equation developed on Sarda ewes. Individualmilk yield and quality were then monitored monthly until the ewes dried off (July 2002). Our results showed that groupH-NSC (which received the diet with the highest NSC content) was associated to the highest milk yield (Pthe suckling period. In contrast, in the milking period group L-NSC showed significantly higher (P(996.2 vs 899.8 g/d) and fat and protein corrected milk yield (979.6 vs 877.7 g/d). Dietary treatments did not significantlyaffect milk composition.In conclusion, considering the milk production of each group as a function of the lactation month, group H-NSC had itsbest performance during the first two months of lactation, while group L-NSC was more productive during the remainingmonths. Also the percentage of protein, fat and casein of the milk during milking showed a similar trend. While the latterparameters were higher in the H-NSC group during the first two months of milking, from the 4th control onward higherlevels were observed in the L-NSC group. These results suggest, at least for Sarda primiparous ewes, the adoption ofdiets with different contents of non-structural carbohydrates according to the productive period (40 %, DM basis, in thefirst two months of lactation, 36 %, DM basis, in subsequent months).

The effect of pasture on the fatty acid profile of milk was evaluated using 30 pluriparous goats, which were divided into two homogeneous groups (H and P) of 15 goats each after kidding. Group H (control) goats were housed in a stall and received alfalfa hay, while group P was led to pasture. The goats of both the groups received the same concentrate. Average milk yield did not differ statistically between the groups. The goats of the P group had significantly higher fat content in milk than those of group H (53.7 vs. 61.5 g/day, p < 0.01), while lactose content was significantly higher for group H (66.2 and 61.4 g/day, for groups H and P, respectively, p < 0.05). Among milk fatty acids, pasture significantly affected the percentages of C18:1 cis9, C18:1 trans11, octadecadienoic acid, mono-unsaturated fatty acid and polyunsaturated fatty acid. Pasture highly influenced the c9 t11 conjugated linoleic acid (CLA) (0.778 and 0.513 g/100 g of fat, for group P and H, respectively, p < 0.01), t10 c12 CLA (0.046 vs. 0.029 g/100 g of fat: p < 0.01, for group P and H, respectively, p < 0.01) and SigmaCLA (0.84 vs. 0.56 g/100 g of fat for group P and H, respectively, p < 0.01) concentrations of milk.

The aim of this study was to detect plant DNA sequences from low copy number genes of barley grain and soybean meal, the latter being subjected to solvent extraction process, in blood, liver, kidney, spleen, muscle tissue and digesta (duodenum, caecum and faeces from rectal ampulla) of rabbits. For fattening, Hyla rabbits (20 males and 20 females) were fed a diet including barley grain (15%) and soybean meal (12%). Animals were slaughtered at 74 d of age (2 ± 0.2 kg live weight) and samples collected from each animal. The quality of each DNA sample was verified using the UNIV P/Q primers used to amplify a mammalian specifi c portion of mtDNA 16S rRNA gene. The presence of plant DNA was subsequently ascertained on the same DNA samples, as well as on barley and soybean (control). Two classes of plant DNA sequences were monitored via real-time PCR, using SYBR® Green I Dye: a high copy number chloroplast gene (trnl) and a low copy number specific for barley (metal-dependent hydrolase-like protein) and soybean (lectin) genes. Melting curve analysis was used to identify the PCR products. The chloroplast fragment detection frequency was higher (P