Bone
Developmental abnormalities
Syndromes


Topic Completed: 1 June 2012

Revised: 28 June 2019

Copyright: 2003-2019, PathologyOutlines.com, Inc.

PubMed Search: Bone[title]Developmental abnormalities

Dariusz Borys, M.D.
Page views in 2018: 241
Page views in 2019 to date: 314
Cite this page: Borys D. Syndromes. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/bonesyndromes.html. Accessed December 5th, 2019.
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

    AFIP images
    Missing Image

    Various images


Micro images

    AFIP images
    Missing Image

    Biopsy of scapular lesion


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

Gross images

    Images hosted on other servers:
    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)
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