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Bone

Developmental abnormalities

Syndromes


Reviewers: Dariusz Borys, M.D. (see Reviewers page)
Revised: 9 August 2013, last major update June 2012
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.

Maffuciís syndrome

General
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● Multiple enchondromas and soft tissue hemangiomas
● Also ovarian carcinoma, brain gliomas, spindle cell hemangioendotheliomas (Am J Surg Pathol 1995;19:1029)

Radiology images
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Various images

Micro images
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Biopsy of scapular lesion



McCune-Albright syndrome

General
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● Polyostotic fibrous dysplasia
● Cafe-au-lait skin pigmentation
● Endocrine abnormalities
● Almost exclusively women

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

Additional references
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eMedicine-Pediatric


Multiple hereditary exostosis

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

Additional references
=========================================================================

LearningRadiology.com


Multiple osteomas

General
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● 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
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● Description by Gardner (Am J Hum Genet 1952 Mar;4:31)


Ollierís 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
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● 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)

End of Bone > Developmental abnormalities > Syndromes


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