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Multiple Cutaneous (multiple + cutaneous)
Selected AbstractsMultiple cutaneous and uterine leiomyomata resulting from missense mutations in the fumarate hydratase geneCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 1 2006G. S. Chuang Summary Multiple cutaneous and uterine leiomyomata (MCL) is an autosomal dominant disorder characterized by the development of benign smooth muscle tumours (leiomyomas) in the skin and uterus of affected women, and in the skin of affected men. In rare cases, MCL has been associated with a predisposition to the rare type II papillary renal cell cancer, also known as hereditary leiomyomatosis and renal cell cancer. The genetic locus for MCL has been mapped to chromosome 1q42.3,43 and subsequently, germline mutations in the fumarate hydratase (FH) gene have been identified. In addition, analysis of FH in some tumours of MCL patients revealed a second mutation inactivating the wild-type allele, suggesting that FH may function as a tumour suppressor gene. Here, we report two cases of MCL patients with FH mutations, designated as T287P and R190L. T287P represents a novel mutation of a highly conserved amino acid of the FH protein. In addition, a patient with an unusual clinical presentation of MCL was found to have the recurrent mutation, R190L, raising the possibility of incorporating FH sequencing as a diagnostic tool. Our findings extend the allelic series of mutations in FH and support its status as the underlying cause of MCL. [source] Phase I/II study of topical imiquimod and intralesional interleukin-2 in the treatment of accessible metastases in malignant melanomaBRITISH JOURNAL OF DERMATOLOGY, Issue 2 2007D.S. Green Summary Background, Patients with metastatic skin disease in malignant melanoma can be difficult to treat effectively, often requiring repeated treatments with different modalities in an attempt to control their disease. Treatment of nonsurgically resectable melanoma deposits is unsatisfactory, as they are often multiple and recurring. Anecdotal evidence from individual use of imiquimod in superficial metastases and intralesional interleukin (IL)-2 in subcutaneous deposits suggests that the combination may be more effective in bulky subcutaneous disease. Objectives, To investigate the combination of topical imiquimod and, for selected lesions, intralesional IL-2, to treat a small cohort of patients with accessible melanoma metastases resistant to other treatments. Methods, Thirteen patients were recruited: all had evidence of multiple cutaneous and/or subcutaneous metastases. Imiquimod was applied to the metastases on a daily basis for 4 weeks, before the introduction of intralesional IL-2. This was injected up to three times a week, into selected lesions, with 0ˇ1 mL injected per lesion at a concentration of 3ˇ6 MIU mL,1, a total of 1 mL being given at each session. The treated lesions were assessed individually at intervals of 3 months. Results, Thirteen patients were treated, with 10 being eligible for assessment. In total, 182 lesions were treated: 137 purely cutaneous lesions and 41 subcutaneous lesions. Overall, a clinical response was seen in 92 lesions (50ˇ5%) with 74 (40ˇ7%) of these being a complete response (CR) with 91% of the CRs being in the cutaneous lesions. New lesions did appear during the treatment course; however, patients with cutaneous disease experienced a marked slowing of the appearance of new cutaneous lesions. No cutaneous lesions that responded reappeared on cessation of treatment. Conclusions, The combination of imiquimod and IL-2 is effective in controlling this mixed cutaneous and subcutaneous disease, and is well tolerated. Imiquimod alone is often enough to elicit a response in purely cutaneous lesions. The addition of intralesional IL-2 increases the response rates in subcutaneous lesions, and in otherwise refractory cutaneous lesions. [source] Vincristine, an efficacious alternative for diffuse neonatal haemangiomatosisACTA PAEDIATRICA, Issue 2 2010S Pérez-Valle Abstract Diffuse neonatal haemangiomatosis (DNH) is an uncommon condition characterized by multiple cutaneous and visceral haemangiomas frequently causing severe complications. Corticosteroids constitute the first therapeutic line; however, when they fail, other alternatives are available, provided possible side effects are closely monitored during and after treatment. We present a case of life-threatening DNH, non-responsive to corticosteroids, successfully treated with Vincristine with minor side effects. We conclude that Vincristine is a valid alternative in corticosteroid-resistant DNH. [source] | ||||||||||