Soft tissue
General
Syndromes


Topic Completed: 1 July 2012

Minor changes: 31 July 2020

Copyright: 2002-2020, PathologyOutlines.com, Inc.

PubMed Search: Soft tissue syndrome

Komal Arora, M.D.
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Page views in 2020 to date: 1,041
Table of Contents
Definition / general
Cite this page: Arora K. Syndromes. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/softtissuesarcomasyndromes.html. Accessed September 30th, 2020.
Definition / general
Bannayan Zonana syndrome:

Beckwith-Wiedemann syndrome:

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:

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:

Mazabraud's syndrome:

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:

Neurofibromatosis type 1:

Neurofibromatosis type 2:

Osler-Weber-Rendu syndrome:

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:

Turner syndrome:
  • 45 X0, associated with cystic hygroma (eMedicine), rarely familial desmoids or GIST


Sarcomas associated with hereditary nonpolyposis colorectal cancer:
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