Lipoma

Variant: Multiple Lipomas

Adiposis Dolorosa / Dercum Disease
- Multiple painful subcutaneous lipomas or fatty accumulations
  - May not always be circumscribed
- Usually lower extremities, pelvis or trunk
- Frequently associated with obesity or alcoholism
Bannayan-Riley-Ruvalcaba / Bannayan-Zonana
- Multiple congenital lipomas, macrocephaly, hemangiomas, mental retardation
Cowden syndrome
- Multiple lipomas, GI hamartomatous polyps, trichilemmomas
- Increased breast, endometrial and thyroid carcinoma
MERRF / Ekbom syndrome
- MERRF = myoclonus, epilelpsy and ragged-red fibers
- Lipomas, skeletal deformities, cerebellar ataxia, photomyoclonus
- mtDNA tRNA mutation
Multiple endocrine neoplasia type 1
- Lipomas and pancreatic, parathyroid, pitutitary tumors
Proteus syndrome
- Lipomas, congenital pelvic lipomatosis, macrodactyly, exostoses, hemangiomas, linear sebaceous nevi

Campen RB, Sang CN, Duncan LM. Case records of the Massachusetts General Hospital. Case 25-2006. A 41-year-old woman with painful subcutaneous nodules. N Engl J Med. 2006 Aug 17;355(7):714-22.
Perriard J, Saurat JH, Harms M. An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family. J Am Acad Dermatol. 2000 Feb;42(2 Pt 2):348-50.
Zigman AF, Lavine JE, Jones MC, Boland CR, Carethers JM. Localization of the Bannayan-Riley-Ruvalcaba syndrome gene to chromosome 10q23. Gastroenterology. 1997 Nov;113(5):1433-7.
Fistarol SK, Anliker MD, Itin PH. Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy. Eur J Dermatol. 2002 Sep-Oct;12(5):411-21.
Larsson NG, Tulinius MH, Holme E, Oldfors A. Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. Muscle Nerve. 1995;3:S102-6.
Traff J, Holme E, Ekbom K, Nilsson BY. Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA. Acta Neurol Scand. 1995 Nov;92(5):394-7.
Costa T, Fitch N, Azouz EM. Proteus syndrome: report of two cases with pelvic lipomatosis. Pediatrics. 1985 Dec;76(6):984-9.
Clark RD, Donnai D, Rogers J, Cooper J, Baraitser M. Proteus syndrome: an expanded phenotype. Am J Med Genet. 1987 May;27(1):99-117.