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Bone
Developmental abnormalities
Syndromes
Reviewers: Dariusz Borys, M.D. (see Reviewers page)
Revised: 2 June 2012, last major update June 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.
Maffuci’s 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)
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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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
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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)
Ollier’s disease
General
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● Multiple enchondromas
● May be associated with ovarian sex-cord tumors
SAPHO syndrome
General
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● 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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