Qatar medical journal · 2026
Lipoid proteinosis in a 36-year-old woman: An index case from Qatar.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Abdelhamed Engy, Veettil Shajitha Thekke
Аннотация
BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 (ECM1) gene. Reporting index cases is important for enhancing clinical recognition and understanding phenotypic variability.
CASE PRESENTATION: A 36-year-old woman presented with bilateral pruritic eyelid papules and long-standing hoarseness. Clinical examination revealed moniliform blepharosis, oral cobblestone plaques, and a broad tongue. Neuroimaging showed symmetrical calcifications in the medial temporal lobes. Fiberoptic laryngoscopy demonstrated an infantile larynx, an uncommon finding in LP. A positive family history and parental consanguinity supported the diagnosis. The patient declined genetic testing and neurological treatment despite experiencing a seizure episode and mood disturbances. Topical and systemic corticosteroids were ineffective. She continues ophthalmology follow-up but has discontinued dermatological and genetic care.
CONCLUSION: This case highlights the classic features of LP, a potentially novel laryngeal finding, and emphasizes the need for early diagnosis and multidisciplinary management to address neurological and psychosocial complications.
CASE PRESENTATION: A 36-year-old woman presented with bilateral pruritic eyelid papules and long-standing hoarseness. Clinical examination revealed moniliform blepharosis, oral cobblestone plaques, and a broad tongue. Neuroimaging showed symmetrical calcifications in the medial temporal lobes. Fiberoptic laryngoscopy demonstrated an infantile larynx, an uncommon finding in LP. A positive family history and parental consanguinity supported the diagnosis. The patient declined genetic testing and neurological treatment despite experiencing a seizure episode and mood disturbances. Topical and systemic corticosteroids were ineffective. She continues ophthalmology follow-up but has discontinued dermatological and genetic care.
CONCLUSION: This case highlights the classic features of LP, a potentially novel laryngeal finding, and emphasizes the need for early diagnosis and multidisciplinary management to address neurological and psychosocial complications.