Hereditary benign telangiectasia is an autosomal dominant inherited dermatosis with typical presentation of telangiectasia of the skin and lips. The cause is still unknown. It is a primary telangiectasia that develops during childhood without systemic symptoms. Clinically round, oval, dendritic, or punctate telangiectasias are present, mostly asymptomatic, and they may cause only aesthetic problems. Because a similar clinical picture can be seen in several other skin diseases that may manifest not only with vascular lesions of the skin but also with systemic involvement and possible serious complications, we must be aware of all differential diagnostic possibilities. We present the case of a 37-year-old patient with hereditary benign telangiectasia to emphasize the importance of establishing the correct diagnosis and presenting proper information about the disease in a patient with telangiectasia of the skin.
The Hashimoto Research Group for Comprehensive Research of Gene Mutation-related Rare and Intractable Diseases of the Skin is a contributor to the Project for Research on Intractable Diseases of the Ministry of Health, Labor, and Welfare (MHLW) of Japan. Our research group performs clinical research on 23 rare intractable genetic skin diseases that are classified into eight disease groups. Among the 23 diseases, 17 are mainly studied by our research group, and 6 diseases are studied in collaboration with other research groups.
Von Hippel-Lindau (vHL) is a hereditary disease characterized by the development of benign and malignant tumors across multiple organ systems. It is seen in approximately 1 in 36,000 live births. Given that vHL is a rare disease, studies that seek to characterize vHL are often hampered by small sample sizes.
Hemangioblastoma (HAB) is a benign, richly vascularized tumor that accounts for 2-6% of all spinal cord neoplasms and ranks third in the structure of intramedullary space-occupying lesions of the spinal cord. Hemangioblastoma may occur sporadically or, in approximately 30% of cases, as part of the clinical picture of a hereditary disease, von Hippel-Lindau disease. The aim of this study was to evaluate the efficacy and safety of stereotactic irradiation of hemangioblastomas of the spinal localization in patients with sporadic and von Hippel-Lindau-associated hemangioblastomas The results of stereotactic radiotherapy were evaluation of 210 spinal hemangioblastomas in 74 patients.
Hereditary multiple exostoses (HME) is a genetic disorder defined by the formation of benign bone tumors known as exostoses, which can lead to chronic pain and functional impairment. This case report details a 57-year-old man with a long-standing history of severe diffuse bone pain attributed to HME. Despite various treatments, his pain remained poorly controlled until an intrathecal pump with fentanyl was implanted.
Objective: Ampullary neoplastic lesions can be resected by endoscopic papillectomy (EP) or transduodenal surgical ampullectomy (TSA) while pancreaticoduodenectomy is reserved for more advanced lesions. We present the largest retrospective comparative study analysing EP and TSA.
Design: Of all patients in the database, lesions with prior interventions, benign histology advanced malignancy (T2 and more), patients with hereditary syndromes and those undergoing pancreatoduodenectomy were excluded.
