Atypical Stone Man Syndrome: Case Report and Literature Review
Journal Title: Journal of Medical Science And clinical Research - Year 2015, Vol 3, Issue 7
Abstract
Stone man syndrome (SMS) prominently known as Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder of progressive heterotopic ossification leading to severe restriction of mobility. The misdiagnosis and mismanagement rate of FOP is quite high. Atypical presentations of FOP are even more difficult to diagnose and ultimately end up in lifelong disabilities owing to iatrogenic injury. We present a case of a 10 year old girl who came with complaints of deformity of spine and multiple swellings over the back noted since 1 year with no history of preceding trauma or illness. On examination multiple bony hard swellings of variable sizes on the back with right sided mid-dorsal scoliosis exaggerated on forward bending were noted. Skeletal survey revealed fusion of lower cervical spinous process, hallux valgus deformity in the left foot, bilateral short and broad femoral neck and pseudo-exostosis over the distal femur and proximal tibia. Sequencing of the ACVR1gene revealed p.R206H mutation associated with FOP. Confirmation of the diagnosis by genetic analysis has averted the possibility of misdiagnosis and mismanagement in this atypical presentation of SMS/FOP. Insights into the variable phenotypic expressivity of FOP may pave the way for more effective therapeutic interventions for FOP in the future.
Authors and Affiliations
Dr. Maheshwar Lakkireddy
Keywords
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