ABSTRACT
Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.
Subject(s)
Humans , Female , Young Adult , Skin Neoplasms/pathology , Uterine Neoplasms/pathology , Neoplastic Syndromes, Hereditary/pathology , Leiomyomatosis/pathology , Skin/pathology , Skin Neoplasms/genetics , Uterine Neoplasms/genetics , Biopsy , Neoplastic Syndromes, Hereditary/genetics , Immunohistochemistry , Smooth Muscle Tumor/pathology , Leiomyomatosis/genetics , Age of Onset , Fumarate Hydratase/geneticsABSTRACT
Background: Narrow band ultraviolet-B (NB-UVB) is now one of the most widely used modalities in the treatment of psoriasis. However, despite its high effi cacy, conventional Goeckerman treatment has fallen out of favor in recent years and some institutions are now using NBUVB with coal tar as their regimen. Objective: To evaluate the effi cacy of NB-UVB, Goeckerman therapy and the effect of addition of retinoid to the treatment regimen in the treatment of psoriasis. Patients and Methods: A retrospective analysis of 65 patients who underwent 81 courses of treatment in our department was undertaken. The effi cacy of NB-UVB and Goeckerman therapy individually, and in combination with acitretin was assessed. Data were analysed to evaluate the contribution of acitretin to these modalities. Results: PASI-75 responses in the NB-UVB, retinoid + NB-UVB (re-NB), Goeckerman and retinoid + Goeckerman (re-Goeckerman) groups were achieved for 12 of 31 patients (39%), 13 of 21 patients (62%), 15 of 17 patients (88%) and 10 of 12 patients, respectively. The addition of acitretin to both modalities reduced both the number of sessions and the cumulative ultraviolet-B dose delivered. Limitations: This is a retrospective study, the patients were not randomized and the number of patients in the treatment groups were dissimilar. Conclusion: Goeckerman therapy is more effective than NB-UVB phototherapy. Although the addition of acitretin to both NB-UVB and Goeckerman therapy did not contribute to treatment outcomes in terms of PASI-75 responses, it enabled a reduction in UV exposures and enhanced efficacy.