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We present a case of SCALP syndrome, which was diagnosed in a male infant with the characteristic findings of sebaceous nevi, central nervous system malformations, aplasia cutis congenita, limbal dermoid, and giant congenital melanocytic nevi, or pigmented nevi. We identified a germline compound heterozygous DOCK6 mutation and a somatic mosaic NRAS Q61R mutation in the giant congenital melanocytic nevus. This report will increase clinician awareness of SCALP syndrome and augment the literature in characterizing this rare syndrome, including its genetic background.

Simple Summary: This research investigates the novel area of how Type 1 and Type 2 diabetic skin responds to ultraviolet (UV) radiation, compared to normal skin, a subject previously unexplored. By focusing on the well-documented carcinogenic effects of UV radiation on murine skin, the study compares these effects with those on diabetic murine skin. For the first time, our findings reveal that Type 1 diabetic skin shows reduced sensitivity in developing squamous cell carcinoma and nevi. This research could significantly impact the scientific community by enhancing our understanding of skin cancer's pathogenesis in diabetic mice and could potentially guide future research on skin carcinogenesis. This study explores the previously uncharted territory of the effects of ultraviolet (UV) radiation on diabetic skin, compared to its well-documented impact on normal skin, particularly focusing on carcinogenesis and aging. Employing hairless SKH-hr2, Type 1 and 2 diabetic, and nondiabetic male mice, the research subjected these to UV radiation thrice weekly for eight months. The investigation included comprehensive assessments of photoaging and photocarcinogenesis in diabetic versus normal skin, measuring factors such as hydration, trans-epidermal water loss, elasticity, skin thickness, melanin, sebum content, stratum corneum exfoliation and body weight, alongside photo documentation. Additionally, oxidative stress and the presence of hydrophilic antioxidants (uric acid and glutathione) in the stratum corneum were evaluated. Histopathological examination post-sacrifice provided insights into the morphological changes. Findings reveal that under UV exposure, Type 1 diabetic skin showed heightened dehydration, thinning, and signs of accelerated aging. Remarkably, Type 1 diabetic mice did not develop squamous cell carcinoma or pigmented nevi, contrary to normal and Type 2 diabetic skin. This unexpected resistance to UV-induced skin cancers in Type 1 diabetic skin prompts a crucial need for further research to uncover the underlying mechanisms providing this resistance. [ABSTRACT FROM AUTHOR]

Introduction: Congenital melanocytic nevi (CMN) are small, congenital pigmented moles on the skin that may appear after or shortly after the birth of a child (up to 12–24 months of age). CMN usually increases proportionately with the baby's physical development and occupies the same area of skin as at birth. The incidence of CMN among newborns is relatively low and ranges from 0.2% to 6%. Purpose of work: To collect information on the congenital melanocytic nevi. Summary: The initial step in caring for a patient with CMN involves obtaining a history and conducting a physical examination. We are able to examine the CMN using dermatoscopy, confocal microscopy, and histopathological examination. Melanoma is not common in people with CMN, but it can develop, so it is worth maintaining oncological vigilance and checking them regularly. In our literature review, we reviewed the clinical presentation of CMN and the dermatoscopic image, as well as the light microscopic and confocal microscopic picture of congenital melanocytic nevi.

Multiphoton microscopy (MPM) is a promising non-invasive imaging tool for discriminating benign nevi from melanoma. In this study, we establish a MPM morphologic catalogue of common nevi, information that will be critical in devising strategies to distinguish them from nevi that are evolving to melanoma that may present with more subtle signs of malignancy. Thirty common melanocytic nevi were imaged in vivo using MPM. Quantitative parameters that can distinguish between different types of nevi were developed and confirmed by examining the histology of eleven of the imaged nevi. MPM features of nevi examined included cytologic morphology of melanocytes in the epidermis and dermis, the size and distribution of nevomelanocytes both within and around nests, the size of rete ridges, and the presence of immune cells in the dermis. Distinguishing features include cytological morphology, the size of nevomelanocytes, the size of nevomelanocyte nests, and the distribution of nevomelanocytes. Notably, these distinguishing characteristics were not easily appreciated in fixed tissues, highlighting essential differences in the morphology of live skin. Taken together, this work provides a morphologic compendium of normal nevi, information that will be critical in future studies directed at identifying melanocytic nevi that are evolving to melanoma.

The high incidence of melanoma and unsatisfactory results of its treatment in some cases make the issue of timely diagnostics of pre-melanoma skin pathology, in particular the identification of pre-melanoma pigmented nevi, of great importance and can be used for choice an adequate tactics of treatment. The purpose of the study was to evaluate the informativeness of dermatoscopy in cases of patients with pigmented nevi of skin as a part of melanoma prevention. 168 patients with pigmented nevi were screened. All nevi were photographed with a digital camera SONY Cyber-Shot DSC-H3, first in normal mode with the capture of the localization zone of the tumor and its surrounding tissues, and then in macro mode (“Zoom 10”). To confirm the clinical diagnosis, additional characteristics of the pigment formation on the skin, the manual immersion dermatoscopy, was used using the contact non-polarized HEINE mini 3000 LED dermatoscope. Evaluation of images was carried out using the diagnostic algorithm ABCD and ABCD-E. Our findings suggest that the clinical diagnostic algorithm used by us for detecting signs of the activation of a pigmented nevi is highly informative — the sensitivity is 97.6 %. Performing immersion dermatoscopy allows to increase the informativeness of the clinical and instrumental examination at the preoperative stage up to 98.2 %, which is comparable with the data obtained at the stage of urgent cytological examination: the method sensitivityis 98.2 %.

Malignant melanoma is notoriously refractive to therapy and resistant to apoptosis. This may reflect the downregulation of Apaf-1, an important mediator of mitochondrial-dependent apoptosis, observed in vitro in melanoma cell lines and by immunohistochemistry for Apaf-1 protein in histological samples of primary and metastatic melanomas. Although it has been suggested that loss of Apaf-1 expression may be an indicator of malignant transformation in melanoma, previous studies on Apaf-1 expression in benign pigmented nevi were performed without reference to their histologic type. Here we have evaluated the expression of Apaf-1 mRNA by fluorescence in situ hybridization and of Apaf-1 protein by immunohistochemistry in a large panel of human melanomas and in eight types of pigmented nevi, considered potential precursors for cutaneous melanoma. We observe a strong negative correlation between melanoma progression assessed according to Clark classification and the expression of Apaf-1. A significant decrease in Apaf-1 expression was observed between Clark II and Clark III lesions, the stages usually associated with a transition from horizontal to vertical growth phase of melanoma. There was also statistically significant difference in Apaf-1 mRNA expression between melanomas of Breslow thickness <1 mm and >4 mm. No Apaf-1 expression could be detected in lymph node melanoma metastases. These results suggest that Apaf-1 expression may become a prognostic marker for progress of human cutaneous melanoma and further support the notion that loss of Apaf-1 may be an important contributory factor in the development of the disease. [ABSTRACT FROM AUTHOR]

Several lysosomal proteases including cathepsins B, D, H and L have been found to play a role in the metastasis of tumor cells. However, up to now no information on the role of cathepsin A, a lysosomal multifunctional peptidase, in the proliferative, invasive, and metastatic potential of malignant tumors has been available. In the present study we compared the activity of cathepsin A in lysates of 34 human melanocytic tumors: primary (n = 12) and metastatic (n = 5) malignant melanoma, dysplastic pigmented nevi (n = 6) and pigmented nevi without evidence of dysplastic melanocytes (n = 11). The carboxypeptidase activity of cathepsin A was assayed at pH 5.0 with its specific substrate Cbz-Phe-Ala. The amount of released C-terminal alanine was measured by the ninhydrin method. We found that lysates of primary malignant melanoma lesions exhibited significantly higher cathepsin A activity than lysates of dysplastic and normal pigmented nevi. The cathepsin A activity in lysates of metastatic lesions of malignant melanoma was significantly higher than in primary focus lysates. It seems that cathepsin A may play a role in malignant transformation and metastatic dissemination of malignant melanoma. [ABSTRACT FROM AUTHOR]

Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a 'new' syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this 'new' syndrome. [ABSTRACT FROM AUTHOR]