Transporter associated with antigen processing deficiency syndrome: case report of an adolescent with chronic perforated granulomatous skin lesions due to TAP2 mutation.

A previously unreported case of transporter associated with antigen processing (TAP) deficiency syndrome (with no parental consanguinity) due to a homozygous TAP2 mutation is presented. Characteristic nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections led to this boy being diagnosed at 15 years old. The role of the dermatologist was crucial in making the correct diagnosis and thereby positively influencing the quality of life and life expectancy of this boy.

Development of a three-dimensional surface imaging system for melanocytic skin lesion evaluation.

Even though surface morphology is always taken into account when assessing clinically pigmented skin lesions, it is not captured by most modern imaging systems using digital imaging. Our aim is to develop a novel three-dimensional (3D) imaging technique to record detailed information of the surface anatomy of melanocytic lesions that will enable improved classification through digital imaging. The apparatus consists of three high-resolution cameras, a light source, and accompanying software. Volume measurements of specific phantoms using volumetric tubes render slightly lower values than those obtained by our 3D imaging system (mean%± SD, 3.8%± 0.98, P<0.05). To examine the reproducibility of the method, sequential imaging of melanocytic lesions is carried out. The mean%± SD differences of area, major axis length, volume, and maximum height are 2.1%± 1.1, 0.9%± 0.8, 3.8%± 2.9, and 2.5%± 3.5, respectively. Thirty melanocytic lesions are assessed, including common and dysplastic nevi and melanomas. There is a significant difference between nevi and melanomas in terms of variance in height and boundary asymmetry (P<0.001). Moreover, dysplastic nevi have significantly higher variances in pigment density values than common nevi (P<0.001). Preliminary data suggest that our instrument has great potential in the evaluation of the melanocytic lesions. However, these findings should be confirmed in larger-scale studies.

Prehistological evaluation of benign and malignant pigmented skin lesions with optical computed tomography.

Discrimination of benign and malignant melanocytic lesions is a major issue in clinical dermatology. Assessment of the thickness of melanoma is critical for prognosis and treatment selection. We aimed to evaluate a novel optical computed tomography (optical-CT) system as a tool for three-dimensional (3-D) imaging of melanocytic lesions and its ability to discriminate benign from malignant melanocytic lesions while simultaneously determining the thickness of invasive melanoma. Seventeen melanocytic lesions, one hemangioma, and normal skin were assessed immediately after their excision by optical-CT and subsequently underwent histopathological examination. Tomographic reconstructions were performed with a back-propagation algorithm calculating a 3-D map of the total attenuation coefficient (AC). There was a statistically significant difference between melanomas, dysplastic nevi, and non-dysplastic nevi, as indicated by Kruskal-Wallis test. Median AC values were higher for melanomas compared with dysplastic and non-dysplastic nevi. No statistically significant difference was observed when thickness values obtained by optical-CT were compared with histological thickness using a Wilcoxon sighed rank test. Our results suggest that optical-CT can be important for the immediate prehistological evaluation of biopsies, assisting the physician for a rapid assessment of malignancy and of the thickness of a melanocytic lesion.

Factors associated with the prevalence of atypical nevus in a Mediterranean pigmented skin lesion clinic.

Atypical melanocytic nevi constitute central risk factor and are precursor lesions for cutaneous melanoma. Data regarding factors associated with their prevalence are mainly derived from fair-skinned populations, whereas little is known regarding their epidemiological associations in darker-skinned, chronically sun-exposed populations. The aim of this study was to identify risk factors for the occurrence of at least one atypical nevus on Crete, the southernmost island of Greece. This hospital-based case-control study included 143 patients and 189 controls with at least one atypical nevus presented at the pigmented skin lesion clinic of the University of Crete. All participants were interviewed and underwent complete skin examination by the same two experienced dermatologists. Multivariate logistic regression analysis was used to adjust for potential confounders. In the multivariate analysis, common melanocytic nevi [odds ratio (OR): of 2.2, 7.5, and 58.9 for the presence of 11-25, 26-100, and >100 common nevi, respectively] and recreational sun exposure (OR: 4.4) increased significantly the risk of the presence of atypical nevus. A decreased risk for atypical nevi was related to an increasing age (OR: 0.96/age), and professional sun exposure (OR: 0.5). Intermittent, recreational sun exposure is mainly associated with the prevalence of atypical nevi in our sample and this effect does not depend on skin phototype. Promotion of sun protection, especially in patients with high numbers of common nevi, might serve as a measure to prevent the development of atypical nevi.