Jahanimoghadam Fatemeh, Hasheminejad Jelveh
Social Determinants on Oral Health Research Center, Kerman University of Medical Sciences, Kerman Iran.
Pediatric Dentistry Resident, School of Dentistry, Kerman University of Medical Sciences, Kerman, Iran.
J Dent (Shiraz). 2022 Sep;23(3):321-326. doi: 10.30476/DENTJODS.2021.89748.1435.
Lipoid proteinosis (LP) is a sporadic congenital metabolic disorder characterized by deposition of hyaline material in various organs. It has a very low prevalence rate of approximately 300 cases reported up to now. It has a vast spectrum of manifestations ranging from asymptomatic skin lesions to the rare but life-threatening laryngeal obstruction. The knowledge of the clinical features of the disease such as hoarseness of voice from infancy, mucocutaneous manifestations, moniliform blepharosis (multiple, beaded papules along the eyelash line) and dental anomalies such as hypoplasia or aplasia of teeth may help oral health care practitioners improve the quality of their patient's life. This case report describes a typical 10-year-old boy who presented to the Department of Pediatric Dentistry, Faculty of Dentistry, University of Medical Sciences, Kerman, Iran with the typical recurrent skin and mucosal lesions, hoarseness, and blepharosis. In addition, he stated a gradual hearing loss, which is not reported as a common manifestation. Moreover, psychosocial issues regarding his appearance and quality of voice had led to absenteeism from school. A punch biopsy obtained from a lesion on his forearm revealed the characteristic histopathological view and directed to the diagnosis of lipoid proteinosis. Dental treatment was initiated with focus on preventive dentistry due to the restricted mouth opening, which was expected to get worse overtime. There is no definitive cure for this disease and the treatment is symptomatic in most cases. A proper workup can result in early diagnosis and management of dental complications, which are difficult to control due to restricted mouth opening, which may significantly affect the patient's social life.
类脂蛋白沉积症（LP）是一种散发性先天性代谢紊乱疾病，其特征是透明物质在各个器官中沉积。到目前为止，它的患病率极低，仅有约300例报告病例。它有广泛的表现形式，从无症状的皮肤病变到罕见但危及生命的喉梗阻。了解该疾病的临床特征，如婴儿期声音嘶哑、皮肤黏膜表现、念珠状睑裂斑（沿睫毛线的多个串珠状丘疹）以及牙齿发育异常如牙发育不全或牙缺失等，可能有助于口腔保健从业者提高患者的生活质量。本病例报告描述了一名典型的10岁男孩，他因典型的复发性皮肤和黏膜病变、声音嘶哑以及睑裂斑，就诊于伊朗克尔曼医科大学牙科学院儿童牙科。此外，他还表示逐渐出现听力损失，这并非常见表现。而且，关于他的外貌和嗓音质量的心理社会问题导致他缺课。从他前臂的一个病变处获取的穿刺活检显示了特征性的组织病理学表现，从而确诊为类脂蛋白沉积症。由于预计张口受限会随着时间推移而加重，因此牙科治疗以预防牙科为重点展开。这种疾病没有确切的治愈方法，大多数情况下治疗是对症的。适当的检查可以实现牙科并发症的早期诊断和管理，由于张口受限，这些并发症难以控制，这可能会严重影响患者的社交生活。
