Idiopathic Multicentric Osteolysis is a rare syndrome that manifests with progressive loss of carpal and tarsal bones in childhood. It typically manifests in early childhood with painful swelling of wrists and feet, and is associated with progressive deformity and radiographic evidence of disappearance of the carpal and tarsal bones. The disease is progressive and may lead to severe deformities and disabilities in late adolescence or early adulthood.
The Clinical Syndrome is categorized into five types all of which have onset of symptoms in early childhood. Three types are hereditary, while two are sporadic.
Idiopathic osteolysis comprises a group of rare diseases characterized by progressive resorption of bones, primarily in the hands and feet. In multicentric variety, as the name implies, there is more than one osteolytic focus. The osteolysis may progress for years, causing severe deformities and serious functional disabilities. Chronic renal failure is frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients.
The causes of Idiopathic Osteolysis of all types are unknown.
Table: CLASSIFICATION OF CARPOTARSAL OSTEOLYSIS BY Hardegger et al (1)
Type: 1
Inheritance : Autosomal dominant
Renal Disease: Infrequent proteinuria in some cases
Other findings: Multicentric osteolysis
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Type: 2
Inheritance: Autosomal recessive
Renal Disease: None
Other Findings: Multicentric osteolysis
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Type: 3
Inheritance: Sporadic
Renal Disease: Severe nephropathy, possible end-stage renal
disease
Other Findings: Multicentric Osteolysis
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Type: 4 (Gorham's Disease)
Inheritance: Sporadic
Renal Disease: None
Other Findings: Multicentric Osteolysis,
hemangiomatosis
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Type: 5 ( Winchester's Syndrome)
Inheritance: Autosomal Recessive
Renal Disease: None
Other Findings: Multicentric Osteolysis,
corneal clouding, skin lesions
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The specific carpotarsal osteolysis of this syndrome is easily differentiated from other rare hereditary bone diseases associated with nephropathy such as nail-patella syndrome ( nail dysplasia, patellar hypoplasia or aplasia) and osteo-onychondysplasia (ungual dystrophy, patellar hypoplasia or aplasia, elbow dysplasia, and iliac horns).
The natural history of idiopathic multicentric osteolysis is not modified by treatment. Therapy with vitamins, minerals, and hormones has been attempted, without significant benefit, although pain and swelling associated with flare-ups of the arthritis respond to salicylates and acetaminophen. Steroids have not proven beneficial.
In conclusion:
Multicentric osteolysis is a rare renal-rheumatologic syndrome with onset during childhood. Our patient developed end-stage renal disease at the age of 34 years, older than in any previous report of this disease. The crucial issues for clinical management are early detection and prevention of complications, as well as genetic counseling of patients and their families.
The clinical, radiologic, biochemical, and histologic manifestations of various forms of idiopathicmulticentric osteolysis are not distinctive enough to distinguish familial from sporadic cases, or to predict the probability of chronic renal failure in later years. Early recognition may allow the patient to receive optimal supportive care, although little can be done to decrease the progression of the osteolysis. This rare disease can be recognized in its earlier stages if clinicians keep the manifestations in mind. Studies in the earlier stages of this disease will provide a greater opportunity to understand the pathogenesis of this rare group ofdiseases.
Source: http://www.fma.org.tw/fagmag/pdfiles/99_3/99-3-243.pdf.
