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We report five patients from two different pedigrees with the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC). All had features of ectodermal dysplasia, but only three had limb ectrodactyly and orofacial clefting. The present patients illustrate the great phenotypic variability in the EEC syndrome. As no single feature, including any of the three cardinal signs, is mandatory for syndrome diagnosis, a meticulous examination of all family members is needed.

Background: Various alloplastic injectable implants have been developed for soft tissue augmentation without surgery, but different local or systemic adverse reactions have limited their use for cosmetic purposes., Objective: To examine the problems associated with silicone injection., Methods: Case report and literature review., Results: We describe an adverse granulomatous reaction after the injection of liquid silicone for lip augmentation, causing facial disfigurement. Although the initial response to steroids was poor, after 3 years of follow-up the nodules have almost disappeared spontaneously., Conclusion: We advise that silicone injection be performed solely by trained physicians using medical-grade silicone or consider other injectable materials.

A consistent relationship has been established between the development of Kaposi's sarcoma (KS) and human herpes virus-8 (HHV8) infection. HHV8-encoded v-cyclin, through its complexing with cyclin-dependent kinase 6, contributes to the phosphorylation and proteasome-mediated degradation of p27(Kip1). On the other hand, down-regulation of p27(Kip1) expression seems to facilitate metastatic dissemination in a variety of human neoplasms. Although the neoplastic nature of KS remains controversial, it has been repeatedly demonstrated that in some patients KS may behave as a malignant neoplasm and follow an ominous course, especially in HIV-positive patients and when associated with extracutaneous involvement. To determine whether decreased p27(Kip1) levels are also related to more aggressive behaviour in KS, it was decided to investigate p27(Kip1) immunoreactivity in KS biopsy specimens and its possible changes in relation to cutaneous versus extracutaneous involvement and HIV serological status. Forty-nine cases of KS (29 AIDS-related and 21 classical) corresponding to 30 cutaneous biopsy specimens (ten macules, seven plaques, and 13 tumours) and 19 extracutaneous biopsy specimens were immunostained to determine the expression of p27(Kip1) and the proliferation marker Ki-67 antigen. The mean percentages of p27(Kip1)-positive cells were significantly higher in biopsy specimens from skin lesions (77.8+/-21.1) than in those from extracutaneous locations (42.0+/-26.0). Amongst cutaneous lesions, p27(Kip1) expression was significantly higher in macules (83.8+/-18.5) and plaques (91.4+/-6.4) than in tumours (65.8+/-22.6). Ki-67 immunoreactivity showed no correlation with any of the variables studied. These results lend support to the hypothesis that decreased levels of p27(Kip1), which may have been brought about by HHV8 infection, play a role in KS progression through its various histopathological stages, to its eventual extracutaneous spread., (Copyright 2000 John Wiley & Sons, Ltd.)

Background: In order to plan the pertinent surgical technique for each patient with melanoma or other skin malignancies, it is mandatory to identify those lymphatic basins at risk for metastases. The advent of radiotracers for functional studies of the cutaneous lymphatic system during the last decade has resulted in the disclosure of an unexpected interindividual variability of the lymphatic drainage in both head and neck and trunk., Objective: To ascertain the usefulness of lymphoscintigraphy for depicting the cutaneous lymphatic draining basins in patients with primary melanoma of the head, trunk and limbs, and to compare the observed lymphatic drain with the expected pattern of lymph flow according to the classical anatomical studies., Material and Methods: Prospective study in a university hospital (Barcelones Nord area). Consecutive patients with the diagnosis of cutaneous melanoma were recruited after excisional biopsy of the primary tumor. Every patient was intradermally injected with rhenium-sulfide colloids or colloidal technetium labelled with Tc-99m in four quadrant doses of 0.3 ml around the lesions or its excisional scar. Scintigraphic imaging of the migrating radiotracer resulted in a flow pattern that was compared with its "classical" expected counterpart., Results: Altogether, 55 lesions were studied, including 9 in the head, 21 in the trunk and 25 in the limbs (7 upper and 18 lower). The scintigraphic drain pattern did not match the expected classical pattern in 37.0% of the lesions overall (14% upper limbs, 42% truncal lesions out from an area 2.5 cm at both sides of Sapey's line or the midline, 16.6% lower limbs and 89% head and neck)., Conclusions: Lymphatic drain of the skin shows a very high intrapersonal variability leading to the need for an individual work-up in order to know the lymphatic basins at risk for metastases. The high rate of unexpected or non-matching patterns casts some doubts over those previous studies that did not include lymphoscintigraphy on a patient-basis.