Tabassum Hera, Mushtaq Sabha, Amin Syed Suhail, Adil Mohammad, Mohtashim Mohammad, Akhtar Kafil
Department of Dermatology, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.
Department of Pathology, Jawaharlal Nehru Medical College, Aligarh, Uttar Pradesh, India.
Indian J Dermatol. 2020 Jan-Feb;65(1):53-56. doi: 10.4103/ijd.IJD_523_18.
Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21. It is characterized by infiltration of hyaline material into the skin, mucosae, and internal organs. Patients present with a classical history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice and restricted tongue movement. A variety of ocular manifestations have been described in association with LP. We report a case of a 10-year-old female child with typical features suggestive of LP associated with unilateral esotropia. The case is reported here for its rarity and uncommon association with esotropia hitherto not documented. Dermoscopic findings of the case are also discussed.
类脂蛋白沉积症(LP)是一种罕见的进行性常染色体隐性疾病,由位于1q21染色体上的细胞外基质蛋白1基因突变引起。其特征是透明物质浸润皮肤、黏膜和内脏器官。患者具有反复水疱形成、皮肤瘢痕、串珠状眼睑丘疹、全身蜡样丘疹以及喉部和舌部浸润导致声音嘶哑和舌运动受限的典型病史。已有多种眼部表现与LP相关的报道。我们报告一例10岁女童,具有提示LP的典型特征,并伴有单侧内斜视。鉴于其罕见性以及此前未记录到的与内斜视的不常见关联,特此报告该病例。同时也讨论了该病例的皮肤镜检查结果。