HEAPHY 1 & 2CASE RACE 1 – DIAG

Kristina GREEN

Sat 31st Aug 2013Session 3 / CR1-2

13:06 – 13:10

WAIKATO / BAY OF PLENTY

ABSTRACTFibrous Dysplasia is an abnormal bone growth where normal bone is replaced with fibrous tissue. It can affect any bone in the body and has two types: monostotic (affecting one bone) or polystotic (involving many bones). The most severe form of polystotic fibrous dysplasia is known as McCune-Albright Syndrome. This condition has a broad spectrum of severity and includes associated abnormalities of bone disease, endocrine disease, and skin abnormalities. The case for discussion follows a 27 year old female that has McCune-Albright Syndrome with severe polystotic fibrous dysplasia.

McCune-Albright Syndrome

Kristina GreenNZIMRT Conference 2013

Genetic disorder of bones, skin pigmentation, and hormonal problems

Severe form of polyostotic fibrous dysplasia

Unilateral café-au-lait spotsEndocrine hyperfunction which can

lead to premature puberty

Fibrous DysplasiaAbnormal bone growth where normal

bone is replaced with fibrous bone tissue

This causes abnormal growth and swelling of bone

It can occur in any part of the skeleton, but bones of the skull, femur, tibia, ribs, and pelvis are most commonly affected.

Case Study

27 year old female with severe polyostotic fibrous dysplasia

Severe facial deformityAlmost entire skeleton affectedLimited imaging performed

Treatment and Future Prognosis

Pain managementAmnio-biphosphonatesExtensive reconstruction surgery

Follow-up imaging

References

Bruce, H (1937). “Progress in Pediatrics: Osteodystrophia Fibrosa”. Archives of Pediatrics & Adolescent Medicine 54 (4): 806.

Albright F, Butler AM, Hampton AO, Smith P (1937). “Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases”. New Eng. J. Med. 216 (17): 727-746.