Alexandra Carla Bobica

Phosphodiesterase-4 inhibition in localized scleroderma: A case series of topical roflumilast

Alexandra Carla Bobica, Hessah BinJadeed, Stephanie Ghazal, Elena Netchiporouk

Localized scleroderma, or morphea, is a chronic fibrosing skin condition with limited therapeutic options, particularly for patients who are elderly, immunocompromized, or intolerant to systemic immunosuppressants. We present three adult patients with severe, treatment-refractory localized scleroderma who demonstrated rapid and substantial clinical …

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From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response

Alexandra Carla Bobica, Sarah Moussa, Lydia Ouchene, Megha Udupa et autres

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Renal Cancer in Hereditary Leiomyomatosis and Renal Cell Cancer: A Scoping Review of Epidemiology, Clinical Features, Management, and Outcomes

Lorena Alexandra Mija, Reda Hessi, Megha Udupa, Alexandra Carla Bobica et autres

Purpose: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant syndrome caused by germline pathogenic variants in the fumarate hydratase ( FH ) gene. Affected individuals face up to a 15% to 20% lifetime risk of developing aggressive renal …

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Successful treatment of localized scleroderma using brodalumab: A case report

Alexandra Carla Bobica, Catherine Zhu, Catherine Silotch, Hessah BinJadeed et autres

We report the first documented use of brodalumab, an IL-17 receptor antagonist, for treating severe linear localized scleroderma refractory to conventional therapies, including methotrexate, mycophenolate mofetil and corticosteroids. The patient demonstrated rapid and sustained improvement in disease activity and severity, highlighting the …

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Quality of life and mental health amongst Canadian morphea patients: Findings from the Canadian morphea registry

Alexandra Carla Bobica

RésuméIntroductionLa sclérodermie localisée (SL), ou morphée, est une maladie auto-immune rare caractérisée par une fibrose de la peau et des tissus sous-jacents. Bien que la SL puisse entraîner une incapacité chronique, un fardeau psychosocial et une altération de la qualité de vie, …