Bone
Developmental abnormalities
Syndromes

Author: Dariusz Borys, M.D. (see Authors page)

Revised: 2 December 2016, last major update June 2012

Copyright: (c) 2003-2016, PathologyOutlines.com, Inc.

PubMed Search: Bone[title]Developmental abnormalities
Cite this page: Syndromes. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/bonesyndromes.html. Accessed December 4th, 2016.
MAFFUCI’S SYNDROME
General
  • Multiple enchondromas and soft tissue hemangiomas
  • Also ovarian carcinoma, brain gliomas, spindle cell hemangioendotheliomas (Am J Surg Pathol 1995;19:1029)

Radiology images
    Images hosted on Pathout server:
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    Various images


Micro images
    Images hosted on Pathout server:
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    Biopsy of scapular lesion


MCCUNE-ALBRIGHT SYNDROME
General
  • Polyostotic fibrous dysplasia
  • Café au lait skin pigmentation
  • Endocrine abnormalities
  • Almost exclusively women

Gross images
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    Missing Image

    4 year old girl with mosaic pattern of darkened skin and body cast due to fractures


Additional references

MULTIPLE HEREDITARY EXOSTOSIS
General
  • Autosomal dominant disorder
  • Multiple osteochondromas diagnosed during childhood
  • Bowing of underlying bones
  • Wide metaphyses
  • Cartilaginous cap may transform to chondrosarcoma

Additional references
MULTIPLE OSTEOMAS
General
  • Associated with Gardner syndrome (autosomal dominant, epidermal cysts, fibromatosis, pigmented ocular fundus lesions, multiple colorectal adenomas with carcinoma at ages 35 - 40 years)

Additional references
OLLIER’S DISEASE
General
  • Multiple enchondromas
  • May be associated with ovarian sex-cord tumors
SAPHO SYNDROME
General
  • Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis
  • Variable and nonspecific histologic findings
  • Often peculiar bone lesions of anterior chest wall and pustular dermatoses
  • Mean age 35 years, range 5 - 63 years

Micro description
  • Early lesions resemble bacterial osteomyelitis with acute inflammation, edema, prominent periosteal bone formation
  • Late lesions have markedly sclerotic bony trabeculae with prominent marrow fibrosis and mild chronic inflammation (Am J Surg Pathol 1996;20:1368)