Osteogenesis Imperfecta Diagnosed in an Active Duty Female Due to CREB3L1 Heterozygosity.

INTRODUCTION: Osteogenesis imperfecta (OI) is a heritable, collagen-related disorder with varying degrees of disease severity and systemic involvement. The hallmark of OI is bone matrix fragility, but diverse effects related to structural integrity and impaired development of connective tissue can account for hearing loss, blue sclera, dentinogenesis imperfecta, frequent fractures, joint hypermobility, and cardiac valve or vessel fragility in some cases. There is emerging recognition of unique genetic mutations leading to OI including CREB3L1, which codes for an important transcription factor for differentiation of osteoblasts. CASE PRESENTATION: We present a case of OI diagnosed in an active duty female with multiple prior fractures and heterozygous CREB3L1, a rare cause of OI. CONCLUSION: This case highlights the importance of consideration of the variable phenotypes of OI and careful assessment of fracture history during evaluation at the Military Entrance Processing Station and subsequent encounters at military treatment facilities to improve readiness.

Is axillary botulinum toxin efficient in controlling secondary Raynaud's phenomenon? A case report.

Raynaud's phenomenon when secondary to underlying systemic disease such as systemic sclerosis occurs early in the disease course and progression can bring significant morbidity such as pain, digital ulceration, and necrosis. Standard medical therapies are aimed at promoting distal arterial vasodilation but are often inadequate in managing Raynaud's phenomenon. Options for refractory cases include surgical and chemical sympathectomy with Botulinum neurotoxin type A (BoNT/A) hand injections but the latter can be associated with transient hand weakness. We describe the case of a 35-year-old woman with undifferentiated connective tissue disease, Raynaud's phenomenon, and concomitant primary focal axillary hyperhidrosis for which she received axillary BoNT/A therapy every 6 months who noted significant improvement in her Raynaud's phenomenon and hand arthralgias for 5 months following the axillary injections. This effect remained durable after 24 months of therapy. This improvement in Raynaud's phenomenon after axillary BoNT/A has not been previously described.