Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

    October 2023 in “ Curēus
    S Reinolds Pereira, Rita Rodrigues, Benevina Maria Vilar Teixeira Nunes, B. Silva, Diana Pestana
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    TLDR Parry Romberg syndrome requires awareness and teamwork in primary care for proper diagnosis and management.
    Parry Romberg syndrome (PRS) is a rare neurocutaneous disorder marked by progressive hemiatrophy of facial tissues, sometimes extending to the trunk and limbs. This case report discusses a 52-year-old man diagnosed with PRS at a family care unit, presenting with left facial hemiatrophy. Diagnosis was confirmed through clinical evaluation and imaging, showing mild maxillary bone resorption. The patient was referred for maxillofacial surgery, but treatment options were constrained by his cardiac conditions. The report highlights the need for awareness and multidisciplinary collaboration in diagnosing and managing rare diseases in primary care settings.
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