Abortive hemangiomas. Description of clinical and pathological findings with special emphasis on dermoscopy.

Infantile hemangiomas (IH) are the most commonly found benign neoplasia in childhood. Up to a third of IH may be present at birth and develop in 3 clearly defined stages. In their endothelial cells, IH express an erythocyte type glucose transport protein (GLUT-1), highly specific to this type of lesion, which enables them to be differentiated from other types of vascular lesions, including congenital hemangiomas (RICH or NICH) and capillary malformations. We present clinical, dermoscopic and histological descriptions of two patients with vascular lesions present at birth whose immunohistochemical GLUT-1 confirmed that they were IH, although their course was not characteristic of this type of lesion. These IH have been called abortive or minimal-growth hemangiomas (AH). We believe that this is the first dermoscopic description of AH and suggest that this technique is a useful diagnostic tool that enables diagnosis to be made without the need for a biopsy.

Intermittent Hypoxia Is Associated With High Hypoxia Inducible Factor-1α but Not High Vascular Endothelial Growth Factor Cell Expression in Tumors of Cutaneous Melanoma Patients.

Epidemiological associations linking between obstructive sleep apnea and poorer solid malignant tumor outcomes have recently emerged. Putative pathways proposed to explain that these associations have included enhanced hypoxia inducible factor (HIF)-1α and vascular endothelial growth factor (VEGF) cell expression in the tumor and altered immune functions via intermittent hypoxia (IH). Here, we examined relationships between HIF-1α and VEGF expression and nocturnal IH in cutaneous melanoma (CM) tumor samples. Prospectively recruited patients with CM tumor samples were included and underwent overnight polygraphy. General clinical features, apnea-hypopnea index (AHI), desaturation index (DI4%), and CM characteristics were recorded. Histochemical assessments of VEGF and HIF-1α were performed, and the percentage of positive cells (0, <25, 25-50, 51-75, >75%) was blindly tabulated for VEGF expression, and as 0, 0-5.9, 6.0-10.0, >10.0% for HIF-1α expression, respectively. Cases with HIF-1α expression >6% (high expression) were compared with those <6%, and VEGF expression >75% of cells was compared with those with <75%. 376 patients were included. High expression of VEGF and HIF-1α were seen in 88.8 and 4.2% of samples, respectively. High expression of VEGF was only associated with increasing age. However, high expression of HIF-1α was significantly associated with age, Breslow index, AHI, and DI4%. Logistic regression showed that DI4% [OR 1.03 (95% CI: 1.01-1.06)] and Breslow index [OR 1.28 (95% CI: 1.18-1.46)], but not AHI, remained independently associated with the presence of high HIF-1α expression. Thus, IH emerges as an independent risk factor for higher HIF-1α expression in CM tumors and is inferentially linked to worse clinical CM prognostic indicators.

A prospective multicenter cohort study of cutaneous melanoma: clinical staging and potential associations with HIF-1α and VEGF expressions.

Melanoma is a highly prevalent cancer that is associated with substantial mortality. Although clinical staging procedures can serve as relatively robust prognostic indicators, we aimed to determine whether assessments of the abundance of hypoxia inducible factor-1α (HIF-1α) or vascular endothelial growth factor (VEGF) in postexcisional melanoma tumor tissues may enable more accurate determination of tumor aggressiveness. We carried out a multicenter prospective study, in which we systematically evaluated 376 consecutive patients diagnosed with melanoma, and performed histochemical assessments for both HIF-1α and VEGF immunoreactivity in the tumor biopsies. Multivariate analyses showed that higher HIF-1α expression, but not high VEGF, were associated significantly and independently with increased tumor aggressiveness as derived from several well-established aggressiveness criteria. A limitation of this study was that this was a descriptive prospective study lacking a post-hoc verification arm. Thus, the presence of increased numbers of positively labeled HIF-1α cells in melanoma tumors may potentially serve as an indicator of tumor phenotype and prognosis, and accordingly guide therapy.

Metástasis de melanoma sobre zona donante de injerto. Caso clínico / Melanoma metastases on skin graft donor site. Case report

Las metástasis cutáneas de melanoma en el área de donde se extrae la piel para cubrir el defecto de la extirpación de la lesión inicial son raras, existiendo pocas publicaciones al respecto. Presentamos el caso inusual de un paciente de 60 años de edad con diagnóstico de melanoma en región supraescapular izquierda, al que se realizó cirugía de ampliación de márgenes y reconstrucción con injerto de piel parcial, apareciendo posteriormente múltiples lesiones metastásicas de aspecto papular, gris-azuladas, en las zonas receptora y donante del injerto. El hallazgo coincidió con la detección de metástasis hepáticas, pulmonares, retroperitoneales y cerebrales, sugestivas de enfermedad diseminada

Cutaneous melanoma metastases in the area where the skin is removed to cover the defect of the initial lesion removal are rare, and there are few publications about it. We present the unusual case of a 60-year-old patient with a diagnosis of melanoma in the left suprascapular region, who underwent a wide local excision surgery and was reconstructed with a partial thickness skin graft, subsequently appearing multiple metastatic lesions of gray-blue papular appearance in the graft recipient and donor areas. This clinical finding coincided with the detection of liver, lung, retroperitoneal, and brain metastases, that lead us to suspect disseminated disease

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

Although CDKN2A is the most frequent high-risk melanoma susceptibility gene, the underlying genetic factors for most melanoma-prone families remain unknown. Using whole-exome sequencing, we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (chromosome 7, g.124493086C>T; p.Ser270Asn) in five unrelated melanoma-prone families from Romagna, Italy. Carriers of this variant had increased telomere lengths and numbers of fragile telomeres, suggesting that this variant perturbs telomere maintenance. Two additional rare POT1 variants were identified in all cases sequenced in two separate Italian families, one variant per family, yielding a frequency for POT1 variants comparable to that for CDKN2A mutations in this population. These variants were not found in public databases or in 2,038 genotyped Italian controls. We also identified two rare recurrent POT1 variants in US and French familial melanoma cases. Our findings suggest that POT1 is a major susceptibility gene for familial melanoma in several populations.

Siringomas de células claras y diabetes mellitus / Clear-cell syringoma and diabetes mellitus

Una mujer de 64 años, diabética tipo 2, presentaba múltiples pápulas eritematosas en la cara y el cuello. La biopsia mostró que se trataba de siringomas de células claras. Destacamos el aspecto atípico y distribución inusual de las lesiones en nuestra paciente; revisamos la histopatología de esta variedad de siringomas, así como su relación con la diabetes mellitus (AU)