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Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The syndrome is characterised by numerous basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal abnormalities and intracranial calcifications. In this paper, the clinical features of 37 Italian patients are reviewed. Jaw cysts and calcification of falx cerebri were the most frequently observed anomalies, followed by BCCs and palmar/plantar pits. Similar to the case of African Ameri

[Multiple cutaneous neoplasms in cyclosporine therapy after kidney transplantation].

We report on a 56-year-old renal allograft recipient receiving cyclosporin A immunosuppression. During this therapy he subsequently developed the following cutaneous neoplasms: squamous cell carcinomas, basal cell carcinomas, Bowen's disease, actinic keratosis, sebaceous hyperplasia, a dysplastic naevus and, finally a nodular malignant melanoma. Adverse effects of the cyclosporin A therapy are discussed, with special reference to dermatologic effects and the implications for patient and doctor.

Primary hyperhidrosis: an updated review.

BACKGROUND: Hyperhidrosis (HH) is a condition characterized by excessive sweating beyond the physiological needs of thermoregulation. HH can be classified as primary (idiopathic) hyperhidrosis (PHH) or secondary hyperhidrosis (SHH), which is associated with underlying medical conditions, medications or systemic disorders. This narrative review provides an updated overview of PHH, with a focus on epidemiology, aetiopathogenesis, clinical manifestations, diagnostic approaches and current management strategies, particularly highlighting pharmacological and procedural treatment options. METHODS:

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… , pachyonychia congenita, eccrine nevus, unilateral nevus flammeus, epidermolysis bullosa, congenital ichthyosiform erythroderma, nail–patella syndrome, POEMS syndrome Respiratory | Chronic obstructive pulmonary disease, asthma Gastrointestinal | Inflammatory bowel disease, gastro-oesophageal reflux … Blue rubber bleb nevus syndrome: presentation of a case and review of the literature. Radiol Case Rep. 2021;16(8):2003–2006. doi: 10.1016/j.radcr.2021.04.086. 71. Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. …

Retrospective photographic review of nontattoo indications treated by picosecond laser.

BACKGROUND: Picosecond (PS) lasers were approved by the US FDA in 2012 after being shown to remove tattoos with more success and fewer treatments compared with traditional methods. PS lasers were shown to be versatile, indicated for the treatment of lentigines, café-au-lait macules (CALMs), and acne scars and skin rejuvenation. OBJECTIVE: We report our experience treating our patients for different indications using a PS laser. METHODS: We performed a retrospective chart and photographic review of all patients seen between 2016 and 2018 that were treated in our centers with a PS laser for no

IL-17, IL-23, and p73 expression in cutaneous melanoma: a pilot study.

The incidence of cutaneous malignant melanoma is increasing worldwide, resulting in the demand for clinically useful prognostic biomarkers, especially for invasive and metastatic disease. We studied the immunohistochemical expression of interleukin-17 (IL-17), IL-23, and p73 in 35 malignant melanomas and compared them with benign melanocytic nevi and Spitz nevi, correlating them with clinical-pathological variables. A higher and statistically significant difference (P<0.05) in the intensity and percentage of stained cells of IL-17 and IL-23 was found in the melanoma group than in ordinary beni

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients

MC1R variation and melanoma risk in relation to host/clinical and environmental factors in CDKN2A positive and negative melanoma patients.

Host, environmental and genetic factors differently modulate cutaneous melanoma (CM) risk across populations. Currently, the main genetic risk determinants are germline mutations in the major known high-risk susceptibility genes, CDKN2A and CDK4, and variants of the low-risk gene MC1R, which is key in the pigmentation process. This case-control study aimed at investigating the influence of the main host and environmental risk factors and of MC1R variation on CM risk in 390 CDKN2A-negative and 49 CDKN2A-positive Italian individuals. Multivariate analysis showed that MC1R variation, number of ne

Clinical manifestations and treatment for keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome: a study in 25 Japanese patients.

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder and is characterized by tumorigenesis and physical deformity. Keratocystic odontogenic tumors (KCOTs) of the jaws are a common manifestation of this syndrome. This study involved a pooled analysis of Japanese individuals with NBCCS and was performed with the aim of analyzing the clinical features of NBCCS and the patterns of occurrence and recurrence of KCOTs in Japanese individuals. METHODS: This study included 25 patients. The relative frequencies of the major symptoms in these patients were compared

Xeroderma pigmentosum skin: an immune privilege site for tumor development.

A unique feature of the skin immune system is its proximity to cells continuously exposed to sun rays, as it is located in the interface between the body and the environment. In this study, we aimed to determine the impact of DNA damaged keratinocytes on the expression of apoptotic-related molecules, in T-cells of the inflammatory component of the tumor environment. Immunohistochemistry was performed on tissue sections derived from skin biopsies of basal cell carcinomas (BCCs) of xeroderma pigmentosum (XP) patients, non-XP patients and nevoid basal cell carcinoma syndrome (NBCCS) patients, usi

Evidence for differential expression of Notch receptors and their ligands in melanocytic nevi and cutaneous malignant melanoma.

The Notch signaling has been implicated in the regulation of self-renewal of adult stem cells and differentiation of precursors along a specific cell lineage, in normal embryonic development and organogenesis. There is also evidence that signaling through Notch receptors regulate cell proliferation and cell survival in several types of cancer, with opposing results depending on tissue context. No data are available in the literature concerning modulation of the expression of Notch receptors, and their ligands, in human cutaneous malignant melanoma. Here, we have investigated, for the first tim

Sun exposure, phenotypic characteristics, and cutaneous malignant melanoma. An analysis according to different clinico-pathological variants and anatomic locations (Italy).

OBJECTIVE: The aim of the study was to examine the relation between sun exposure and other selected risk factors and the development of different clinico-pathological variants of cutaneous malignant melanoma (CMM) at different body locations. METHODS: We analysed data from a case-control study conducted in Italy between 1992 and 1994 on 542 cases of CMM and 538 hospital controls. Clinico-pathological variants included 391 superficial spreading (SSM), 72 nodular (NM) and 39 lentigo maligna (LMM) melanomas. RESULTS: The risk of SSM increased for a high education level (odds ratio, OR = 1.5, 95

Expression of the human erythrocyte glucose transporter Glut1 in cutaneous neoplasia.

BACKGROUND: The increased glucose uptake seen in cancer cells correlates with the expression of human erythrocyte glucose transporter (Glut1) protein in certain human malignancies. OBJECTIVE: Our purpose was to determine Glut1 expression in cutaneous neoplasms. METHODS: A polyclonal anti-Glut1 antibody (MYM) and a standard ABC immunoperoxidase technique were used to determine Glut1 expression in invasive squamous cell carcinomas (SCCs), SCC in situ, basal cell carcinomas (BCCs), melanomas, actinic keratoses (AKs), seborrheic keratoses, common acquired nevi, and scars with regenerative epider

Keratins and the skin.

Keratins are the major structural proteins of the vertebrate epidermis and its appendages, constituting up to 85% of a fully differentiated keratinocyte. Together with actin microfilaments and microtubules, keratin filaments make up the cytoskeletons of vertebrate epithelial cells. Traced as far back in the evolutionary kingdom as mollusks, keratins belong to the superfamily of intermediate filament (IF) proteins that form alpha-helical coiled-coil dimers which associate laterally and end-to-end to form 10-nm diameter filaments. The evolutionary transition between organisms bearing an exoskele

Microsatellite analysis of loss of heterozygosity on chromosomes 9q, 11p and 17p in medulloblastomas.

Medulloblastoma (MB) is a primitive neuroectodermal tumour of the cerebellum whose pathogenesis is poorly understood. Previous studies suggest a role for loci on chromosomes 11p and 17p in the pathogenesis of MB. Evidence for another potential MB locus has recently emerged from studies on Gorlin syndrome (GS), an autosomal dominant syndrome with multiple basal cell carcinomas, epithelial jaw cysts, and skeletal anomalies. Since GS can be associated with MB, we examined sporadic (non-GS) cases of MB for evidence of loss of heterozygosity (LOH) on chromosome 9 where a putative GS locus has been

[Analysis of clinical, pathological and molecular genetic characteristics of conjunctival melanoma].

Objective: To investigate the clinical, pathological and molecular genetic characteristics of conjunctival melanoma (CoM). Methods: A retros … ding 23 cases (32.9%) with atypical primary acquired melanosis and 2 cases (2.9%) with conjunctival nevus, and 48 cases (68.6%) had tumor infiltrating lymphocytes. Immunohistochemistry demonstrated positive melanin markers such as human melanoma-associated antigen 45, melanocyte antigen A, S-100 protein and sex-determining region Y-frame protein 10. Thi …

Patient-reported long-term outcome following allogeneic hematopoietic stem cell transplantation in pediatric chronic myeloid leukemia.

BACKGROUND: Pediatric CML is very rare. Before the introduction of tyrosine kinase inhibitors (TKIs), allogeneic hematopoietic stem cell tra … CT after failure of relapse treatment with TKIs. Six secondary malignancies (dysplastic melanocytic nevus and ALL, basal cell carcinoma (N=2), rhabdomyosarcoma, and thyroid carcinoma developed in 5 (13%) participants. As assessed by the SF-36 questionnaire, impaired physical health was mainly associated with cGvHD. The mental component summary score sho …