Soft tissue
General
Syndromes
Author: Komal Arora, M.D.
Last author update: 1 July 2012
Last staff update: 9 March 2023
Copyright: 2002-2024, PathologyOutlines.com, Inc.
PubMed Search: Soft tissue syndrome
Table of Contents
Definition / generalCite this page: Arora K. Syndromes. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/softtissuesarcomasyndromes.html. Accessed December 4th, 2024.
Definition / general
Bannayan Zonana syndrome:
Beckwith-Wiedemann syndrome:
Blue rubber bleb nevus syndrome:
Carney syndrome / complex:
Carney triad:
Gardner syndrome:
Kasabach-Merritt syndrome:
Klippel-Trenaunay-Weber syndrome:
Launois-Bensaude syndrome:
Li Fraumeni syndrome:
Lipomatosis, multiple syndrome:
Maffucci syndrome:
Mazabraud's syndrome:
McCune-Albright syndrome:
Multiple endocrine neoplasia 1:
Neurofibromatosis type 1:
Neurofibromatosis type 2:
Osler-Weber-Rendu syndrome:
Proteus syndrome:
Stewart-Treves syndrome:
Sturge-Weber syndrome:
Turner syndrome:
Sarcomas associated with hereditary nonpolyposis colorectal cancer:
- Multiple lipomas and hemangiomas
- OMIM #153480
Beckwith-Wiedemann syndrome:
- Congenital overgrowth syndrome associated with alveolar rhabdomyosarcoma (Pediatr Dev Pathol 2001;4:550)
- OMIM #130650
Blue rubber bleb nevus syndrome:
- Autosomal dominant or sporadic syndrome of skin or visceral hemangiomas
- Elevated expression of c-kit has been noted in small venous malformations
- 14 year old girl with multiple recurrent hemangiomas of skin and GI tract (Korean J Intern Med 2008;23:208)
- 19 year old man with severe syndrome (Rare Tumors 2010;2:e36)
Carney syndrome / complex:
- Autosomal dominant multiple neoplasia syndrome with myxomas and pigmented lesions of skin and mucosa, due to mutation in PRKAR1A gene (OMIM #160980) or 2p16 abnormalities (OMIM #605244)
Carney triad:
- Gastric GIST, pulmonary chondroma and extra-adrenal paraganglioma (Mayo Clinic Proceedings 1999;74:543, Mayo Clinic Proceedings;1999;74:638)
- OMIM # 604287
Gardner syndrome:
- Fibromatosis, familial adenomatous polyposis and osteomas
- OMIM #175100
Kasabach-Merritt syndrome:
- Microangiopathic hemolytic anemia associated with childhood hemangioma or kaposiform hemangioendothelioma
- OMIM #141000
Klippel-Trenaunay-Weber syndrome:
- Hemangiomas with hypertrophy of associated bone and soft tissue
- OMIM #149000
Launois-Bensaude syndrome:
- Painless symmetrical diffuse deposits of fat beneath the skin of the neck, upper trunk, arms and legs
- Also known as multiple symmetrical lipomatosis, cephalothoracic lipodystrophy and Madelung disease
Li Fraumeni syndrome:
- Various soft tissue sarcomas, osteosarcoma, breast cancer, brain tumors, leukemia and adrenocortical carcinoma
- Usually due to p53 mutation
- OMIM #151623
Lipomatosis, multiple syndrome:
Maffucci syndrome:
- Hemangiomas, enchondroma, chondrosarcoma
- OMIM #166000
Mazabraud's syndrome:
- Fibrous dysplasia and intramuscular myxoma (J Cancer Res Clin Oncol 1998;124:401)
McCune-Albright syndrome:
- Major features are polyostotic fibrous dysplasia, cafe-au-lait skin pigmentation and precocious puberty
- Myxomas are minor feature (see Mazabrauds syndrome)
- OMIM #174800
Multiple endocrine neoplasia 1:
- Multiple lipomas may be a minor feature
- OMIM #131100
Neurofibromatosis type 1:
- Neurofibroma, MPNST
- OMIM #162200
Neurofibromatosis type 2:
- Schwannoma, neurofibroma, meningioma, astrocytoma, rarely perineurioma (Am J Surg Pathol 2006;30:1624)
- OMIM #101000
Osler-Weber-Rendu syndrome:
- Telangiectasias
- OMIM #187300
Proteus syndrome:
- Various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation and nevi (eMedicine)
Stewart-Treves syndrome:
- Cutaneous angiosarcoma that develops in long-standing chronic lymphedema (eMedicine)
Sturge-Weber syndrome:
- Port-wine spot of face
- OMIM #185300
Turner syndrome:
- 45 X0, associated with cystic hygroma (eMedicine), rarely familial desmoids or GIST
Sarcomas associated with hereditary nonpolyposis colorectal cancer:
- Uterine sarcomas, liposarcoma, leiomyosarcoma, and carcinosarcoma (Fam Cancer 2009;8:209)
