Anatomic Pathology: Bone and Joint Pathology

• Albers-Schönberg disease is the hereditary abnormality of skeletal remodeling caused by osteoclastic dysfunction resulting in diffuse sclerosis (marble bone disease).

• Crouzon syndrome involves craniofacial deformities, maxillary hypoplasia, shallow orbits, and exophthalmos.

• Hutchison syndrome refers to the predominant skeletal pattern of metastases in neuroblastoma.

• Pepper syndrome is mainly associated with hepatic metastases. Lymph nodes, ovaries, and testes are also frequently involved, but lung metastases are rare.

• Turcot syndrome is characterized by colonic polyposis with brain tumors (gliomas).

Cotran RS, Kumar V, Collins T (eds): Robbins Pathologic Basis of Disease, 6th ed. Philadelphia: Saunders, 1999.

Wold LE, Adler CP, Sim FH, et al (eds): Atlas of Orthopaedic Pathology, 2nd ed. Philadelphia: Saunders, 2004.

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