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Bannayan–Riley–Ruvalcaba Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Gabriela Maria Abreu Gontijo, Clóvis Antônio Lopes Pinto
The first reported successful treatment attempt with the mTOR complex 1 (mTORC-1) inhibitor sirolimus for a patient with PHTS described a reduction of tumor masses and improvement of the patient's general state [37]. More recently, an experimental oral sirolimus treatment of vascular malformation in a patient with BRRS was successfully reported [38]. Later, a child with an extreme phenotype of PHTS, including lipomatosis and severe cachexia, was treated with sirolimus and had an improvement of symptoms. This patient received a daily oral sirolimus dose of 0.1 mg/kg body weight. After 4 weeks of sirolimus therapy without side effects, the parents reported subjective improvement of physical and mental activity. Under sirolimus therapy, the growth of the patient's abdominal lipomatosis was attenuated, but the tumor volume was not reduced [39].
The skin and subcutaneous tissues
Published in Kevin G Burnand, John Black, Steven A Corbett, William EG Thomas, Norman L Browse, Browse’s Introduction to the Symptoms & Signs of Surgical Disease, 2014
Kevin G Burnand, John Black, Steven A Corbett, William EG Thomas, Norman L Browse
Multiplicity Patients often have many lipomas, or have had others excised in the past. Multiple contiguous lipomas cause enlargement and distortion of the subcutaneous tissues. This condition is called lipomatosis. It usually occurs in the buttocks and sometimes in the neck.
Interatrial shunts: technical approaches to percutaneous closure
Published in Expert Review of Medical Devices, 2018
Gianluca Rigatelli, Marco Zuin, Nguyen Tuong Nghia
Interatrial septum thickness in the general population is about 6 mm and usually it increases to about 7 mm in aged population [35]. Interatrial septum hypertrophy (IASH) and lipomatosis have been defined when thickness is >8 mm and >15 mm, respectively. IASH is common in elderly people and is related with arterial hypertension and smoke but not with vascular disease. Lipomatosis of interatrial septum is a benign tumoral processcharacterized by fat accumulation in the interatrial septum [36]. Both conditions may have a deep impact on transcatheter closure because in case of both PFO and ASD, a stiff device such as those of the Amplatzer family should be contraindicated, due to the inability of such a device to stretch the waist zone of more than 7–8 mm.
Bilateral symmetric lipomatosis of the orbit in Madelung’s disease
Published in Orbit, 2022
Mingkwan Lumyongsatien, Dinesh Selva
A 42-year-old Thai man developed painless slow progressive masses of both lower eyelids for 3 years following neck swelling. He had a history of hypertension and previously treated for pulmonary tuberculosis. He also had a history of excessive alcohol consumption, 750 cc per day for 10 years. Physical examination showed marked swelling with soft consistency of both lower eyelids (Figure 1a,b). He had neck swelling secondary to fat infiltration, typical of “Madelung’s collar”. Best visual acuities were 20/30 of the right eye and 20/40 of the left eye. Color vision testing using Ishihara plates was normal in both eyes. Hertel exophthalmometry revealed axial proptosis of 21 mm bilaterally. Extraocular movements were full. Laboratory testing showed an elevated fasting blood sugar of 259 mg/dl (normal 70–110 mg/dl), abnormal liver enzyme (SGOT 112 U/L (normal < 50 U/L)), hypercholesterolemia (cholesterol 264 mg/dl (normal 150–200 mg/dl)), and thyroid function tests were unremarkable. CT scan showed excessive symmetrical non-encapsulated fat deposition in the orbital fat extending into the lower eyelids (Figure 2 a,b). In addition, there was fat deposition in the salivary glands, subcutaneous tissue along the neck and under the sternocleidomastoid muscles and supraclavicular areas. Debulking of the inferior pre and postseptal orbital fat was performed via subciliary incisions on both lower lids. Histopathology demonstrated mature adipose tissue interspersed with thin fibrous septae. The proptosis values remained unchanged postoperatively. He developed recurrent lipomatosis of both lower eyelids 1 year after surgery.
Characterization of two distinct lipomas: a comparative analysis from surgical perspective
Published in Journal of Plastic Surgery and Hand Surgery, 2018
Hak Chang, Seong Oh Park, Ung Sik Jin, Ki Yong Hong
Lipomas are common benign soft tissue tumors composed of mature white adipocytes. Lipoma, along with angiolipoma, spindle cell lipoma, pleomorphic lipoma, hibernoma, chondroid lipoma and lipoblastoma are categorized as benign lipomatous tumors [1]. Based on the depth of lesion, lipomas can be classified into superficial and deep lipomas. Superficial lipomas are typically asymptomatic and frequently found in the upper back, neck, shoulder and abdomen. Approximately 5–8% of lipomas present as lipomatosis, which lesions are microscopically indistinguishable from solitary lesion.