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We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two cafe au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis have been discussed. Finally, we maintain this case is an example of the multiple lentigines syndrome/LEOPARD syndrome spectrum.

Background: Melanocytic nevi in the genital, acral, and flexural sites often display clinical and histologic features that may simulate melanoma. We verified whether this is the case also for nevi of the breast. Methods: Eleven dermatopathologists, from nine Italian Institutions, collected the specimens of melanocytic lesions from the breast and other body sites, excluding the acral, genital, and flexural areas, as controls. Cases and controls were matched for sex and age. All nevi were observed ‘blindly’ and simultaneously by all participants. For each lesion, 10 histological parameters were analyzed: asymmetry, absence of lateral demarcation of melanocytes, lentiginous proliferation, nested and dyshesive pattern, intraepidermal melanocytes above the basal layer, involvement of the hair follicle, absence of maturation of dermal melanocytes, melanocytic atypia, fibroplasia of the papillary dermis, and lymphocytic dermal infiltrate. Each parameter was scored 2 when present and 1 when absent or not valuable. A total score was calculated for each lesion. Results were statistically analyzed by the chi-square test and the Mann–Whitney U-test. Results: One hundred and one nevi came from the breast area and 97 from elsewhere. Breast nevi exhibited significantly more atypical features than nevi from other sites. In particular, breast nevi with intraepidermal melanocytes, melanocytic atypia, and dermal fibroplasia were significantly more numerous. We did not find any sexual difference. Conclusions: To avoid undue concerns, dermatopathologists should be aware that melanocytic nevi of the breast may show a high degree of atypical features.

We describe two boys affected by Down syndrome (DS), who showed milia-like idiopathic calcinosis cutis (MICC). The clinical diagnosis was confirmed by histological examination. All reported cases are reviewed and compared. Syringeal structures play a significant part in the pathogenesis of this dermatosis. MICC appears to be a poorly recognized condition which, rarely, is associated with DS.

Background: Tenascin is an extracellular matrix protein frequently expressed around neoplastic and non-neoplastic lesions of the skin. Actinic keratoses (AKs) are intraepidermal neoplastic lesions of the sun-exposed skin. They are classified according to the extension of dysplasia in four stages; they also present different histological varieties. Methods: We performed an immunohistochemical study using tenascin monoclonal antibody diluted 1 : 50 on 150 cases of AKs classified, respectively, in histotypes (38 hypertrophic, 18 atrophic, 21 bowenoid, 19 acantolytic, and 40 mixed) and in stages (27 stage I, 46 stage II, 42 stage III, and 35 stage IV; 14 in tumoral progression). Results: Tenascin positivity was observed in all cases at the dermal level close to the epithelial lesion. The intensity of reaction increased from stage I to stage IV and, of course, also in tumoral progression. Its expression was not related to the histotypes. In very few cases, the atypical keratinocytes were positive. Conclusions: Tenascin expression in AKs is related to the stages of dysplasia. In fact, the immunostaining intensity corresponds to the degree of the dysplasia rather than the thickness of the involved epidermis. Tenascin plays a role in neoplastic progression working as an anti-adhesive factor.

AIMS: The histological features used in the diagnosis of melanoma may be present in benign naevi, but quantitative data are not available. The aim of this study was to establish the real prevalence of such features in naevi. METHODS: Ten dermatopathologists, from nine Italian institutions, studied a series of naevi. Eleven histological parameters currently used in melanoma diagnosis were analysed: asymmetry, poor circumscription, predominance of single melanocytes, irregular confluent nests, suprabasal melanocytes, hair follicle involvement, absence of maturation, cytological atypia, dermal lymphocytic infiltrate, mitoses, and necrosis. RESULTS: Ninety one naevi were examined: 22 junctional, 59 compound, and 10 intradermal. None of the studied parameters was seen in 22 of the benign naevi studied. One or more investigated features were found in 69 naevi. Poor circumscription was found in 49 cases, single melanocytic predominating in 42, asymmetry in 41, irregular confluent nests in 16, cytological atypia in 14, suprabasal melanocytes in seven, and hair follicle involvement in seven; absence of maturation, mitoses and necrosis were not found. CONCLUSIONS: The histological features used for the histological diagnosis of melanoma are often present in benign melanocytic naevi. This suggests a critical, non-mechanical use of them in melanoma diagnosis.

An 11-year-old girl with Down syndrome had whitish, milia-like lesions on the acral areas of the limbs, and periorbital syringomas. Calcium deposits were the histologic counterparts of the milia-like lesions. This is the first European report of this feature in Down syndrome.

To assess if the quantity of silver-stained nucleolar organizer region (AgNOR) proteins predicts the behavior of actinic keratosis (AK), we performed a standardized AgNOR analysis on 51 cases of AK; in addition, 10 cases of squamous cell (SCC) and 10 cases of basal cell (BCC) carcinomas and 10 normal skin samples were also studied. AgNOR analysis was performed on formalin-fixed and paraffin-embedded sections according to the guidelines of the Committee on AgNOR Quantification (1995), evaluating the mean area (microm(2)) of AgNORs per nucleus (NORA). A highly significant P value (< 0.001) was found in the comparison among NORA values of normal skin (1.869 microm(2); SD + 0.332), AK (3.988 microm(2); SD + 0.914), BCC (3.044 microm(2); SD + 0.254), and SCC (5.286 microm(2); SD + 0.920). In AK, a progressive increase of mean NORA values was observed moving from Stage I (3.161 microm(2); SD + 0.600) to Stage II (3.455 microm(2); SD + 0.562), Stage III (4.360 microm(2); SD + 0.295), and Stage IV (5.168 microm(2); SD + 0.694); highly significant differences (P < 0.001) were noted when Stages I or II were compared with Stage III or Stage IV or between these latter stages. The AgNOR quantity may identify AKs with high proliferative activity and increased tendency to develop into invasive SCC.

We describe an 8-year-old boy with Rubinstein-Taybi syndrome, a multiple congenital anomaly/mental retardation syndrome characterized by broad thumbs and great toes, peculiar facies, and mental retardation caused by mutations in the transcriptional coactivator CREB binding protein (CBP). He had on his right side yellowish papular lesions organized in narrow bands according to Blaschko lines, later confirmed by histology as an epidermal nevus. Epidermal nevus syndrome has been ruled out because the patient failed to meet the criteria for inclusion under this designation. This association may be coincidental.

✓ Primary intramedullary melanoma is a very rare tumor that occurs most frequently in the middle or lower thoracic spinal cord. The authors present a case of primary cervical cord melanoma that developed in a 62-year-old man who was surgically treated and subsequently underwent radiation therapy. Clinical and histogenetic features of this neoplasm and results of chemo-, radio-, and immunotherapy are reported. Both “dysembryogenetic” and “mesodermal” hypotheses on the origin of primary spinal melanoma are discussed.

Three patients, two females and one male, presented with white fibrous papulosis of the neck. This condition is characteristically located on both sides of the neck ; however, it also appears on the upper sternal region, with a necklace-like configuration, in the two female patients, aged 72 and 78 years, respectively. A differential diagnosis was carried out with respect to other dermatoses that show a similar skin aspect, and to the pseudoxanthoma elasticum-like papillary dermal elastolysis. This is because this condition, as well as fibrous papulosis, can be interpreted as a clinical-histological variant of the same process of cutaneous ageing. However, environmental factors can play a role in the aetiopathogenesis of fibrous papulosis in the Sicilian population.

A 67-year-old housewife was referred to us for a papulonodular keratotic lesion on the left side of the left eyebrow (Fig. 1). The lesion had started to develop 6 months earlier and had gradually reached a size of 2 cm in diameter. It was firm, nonitching, and painless on pressure. Figure 1. Papulokeratotic lesion on the left eyebrow Download figure to PowerPoint Histologic examination of a punch biopsy obtained from the reddish edge of the nodule showed a jagged epidermal profile with areas of hyperplasia alternating with areas in which the epidermis was thin. The epidermis showed multifocal acanthosis, diffuse hypergranulosis, and hyperorthokeratosis; only focal hyperparakeratosis was present. The basal layer showed spotty areas of liquefaction degeneration, with superimposed lymphocytic infiltrate, and exocytoses that indented the profile of the dermo-epidermal junction. Focally, some eosinophilic bodies were present. Keratinocytes with hyperchromatic nuclei were also present in the lower layer of the epidermis (Fig. 2). Figure 2. Histologic examination showing epidermis with acanthosis, hypergranulosis, and hyperorthokeratosis; keratinocytes with hyperchromatic nuclei can also be seen in the lower layer. The papillary dermis shows a band-like lymphocytic infiltrate (original magnification, × 10) Download figure to PowerPoint The papillary dermis showed a mostly band-like infiltrate consisting predominantly of lymphocytes, a few melanin-poor histiocytes, and very rare eosinophils; telangiectases and solar elastosis were also present.

Primary intramedullary melanoma is a very rare tumor, most frequently occurring in the middle or lower thoracic spinal cord. The authors present a new case of primary cervical cord melanoma that developed in a 62-year-old man whose tumor was surgically treated and subsequently received radiation therapy. Clinical and histogenetic features of this neoplasm, results of chemo-, radio-, and immunotherapy are reported. Both “disembryogenetic” and “mesodermal” hypotheses on the origin of primary spinal melanoma are discussed.