Brief case study of a rare disease seen at Hospital Regional in Cuzco, Peru.
HPI: 28 year old male described symptoms of cough and malaise for the past year. Recently in the past few months, he began having hemoptysis. Patient went to a regional clinic, where he was diagnosed with pulmonary tuberculosis and started on RIPE therapy. Patient has been continuing therapy, but was referred to Hospital Regional for further management.
PMHx, PSHx, FHx: Has had short stature and some deformities of his extremities since growing up as a child.
Social Hx: Non-contributory.
Physical Exam:
Gen: Short stature, pale, with some diaphoresis, using oxygen.
Lungs: Significant adventitious sounds including wheezing in both lung fields. Some respiratory distress.
Heart: Regular rate and rhythm, no murmurs, rubs, gallops.
Abdomen: Soft, non-tender, bowel sounds present.
Extremities: Significant hard non-tender lesions located in both arms and legs, causing some deformity of the extremities and shorted stature.
Brief Differential Dx:
-Chondrosarcoma
-Ewing’s sarcoma
-Fibrosarcoma
-Osteosarcomas
-Endochondroma
-Multiple Endochondroma (Ollier, Marfucci)
-Chondrosarcoma
Lab Tests:
-Extremity X-rays
-Chest X-rays
Discussion:
From Silve & Jüppner, 2006:
“Enchondromas are common intraosseous, usually benign asymptomatic cartilaginous tumors, which develop in the metaphyses and may become incorporated into the diaphyses of long tubular bones, in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma.”
(Continued):
“Roentgenograms typically show multiple, radiolucent, homogenous lesions with an oval or elongated shape and well defined slightly thickened bony margin. The lesions and long bone axis run parallel. The lesions usually calcify with time and become diffusely punctated or stippled, a light trabeculation may be visible.”
(Continued):
“Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas, which usually occurs in young adults, and thus at an earlier age than observed in patients with chondrosarcoma alone. The reported incidence of malignant transformation is variable and estimated to occur in 5–50% of the cases.”
(Continued):
“There is no medical treatment for Ollier disease. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation).”
References:
1. Silve C, Jüppner H. Ollier disease. Orphanet Journal of Rare Diseases. 2006, 1:37.
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