Diagnostic Dilemma: Multiple Autoimmune Syndrome Versus Incomplete Graham-Little-Piccardi-Lassueur Syndrome Overlap Mixed Connective Tissue Disease

    June 2023 in “ Romanian Medical Journal
    Tudorel Poalelungi, Alexandru Olaru, Mihaela Mariuta
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    TLDR The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
    The document describes a 53-year-old female patient with symptoms of autoimmune-related skin and hair conditions, including patchy scalp hair loss, partial eyebrow hair loss, facial erythema, and scaly atrophied facial patches. Biopsies indicated cicatricial alopecia due to Lichen Planus Pilaris and Lichen Spinulosus, and blood tests showed high levels of Antinuclear antibodies and U1-nRNP, leading to a diagnosis of Mixed Connective Tissue Disease. Despite unchanged laboratory findings, the patient experienced significant clinical improvement after one year of hydroxychloroquine treatment. The case emphasizes the difficulty in differentiating between Multiple Autoimmune Syndrome and overlapping autoimmune diseases and underscores the necessity of accurate diagnosis for effective treatment.
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