Hereditary Multiple Osteochondromas (HMO)
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Hereditary Multiple Osteochondromas (HMO) is a rare autosomal dominant skeletal disorder caused by mutations in the EXT1 or EXT2 genes, which impair heparan sulfate synthesis. This deficiency triggers aberrant BMP and Hedgehog signaling, leading to the growth of multiple benign, cartilage-capped bone tumors known as osteochondromas. These growths frequently cause chronic pain, skeletal deformities, and mobility issues, significantly reducing the quality of life for both children and adults. While surgical excision remains the primary treatment for resolving physical obstructions, research into pharmacological interventions like the BMP inhibitor LDN-193189 and the RARγ agonist palovarotene shows promise in suppressing tumor formation. However, recent clinical trials for palovarotene were terminated due to safety concerns regarding premature growth plate closure in pediatric patients. Despite being predominantly benign, these lesions require lifelong monitoring due to a small risk of malignant transformation into chondrosarcoma.
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