Alshomar Khalid M, Alkatan Hind M, Alrikabi Ammar C, Al-Faky Yasser H
Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Pathology and Laboratory Medicine Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Int J Surg Case Rep. 2021 Feb;79:73-75. doi: 10.1016/j.ijscr.2021.01.012. Epub 2021 Jan 6.
Dyschromatosis symmetrica hereditaria (DSH) are rare autosomal dominant pigmentary genodermatosis characterized by reticular hyper- and hypopigmented skin macules on the dorsal aspect of the extremities and freckle-like spots on the face, sparing the palms and soles. Cutaneous hemangiomas were not reported in the literature with DSH. We describe for the first time to the best of our knowledge a case of DSH with histopathologically confirmed eyelid hemangioma.
A 25-year-old female was diagnosed with DSH in her childhood by a dermatologist then later developed cutaneous lupus erythematosus (CLE). Four years later she presented to our clinic with right lower eyelid painless mass. The histopathological examination showed inflamed epidermis overlying a mixed capillary and cavernous hemangioma. The patient had complete healing of the skin post-operatively with excellent cosmetic result.
DSH is usually isolated, however, acral hypertrophy, psoriasis, dental anomalies, aortic valve sclerosis, dystonia and intracranial hemangiomas have been reported in association with the disease. The types of the hemangiomas reported were not specified with lack of tissue diagnosis. Our case is unique because of the late occurrence of this eyelid skin hemangioma, the concomitant CLE, the history of hyperthyroidism, and the positive family history of consanguinity.
The pathogenesis of DSH is not well understood, however the previously reported intracranial hemangiomas and the currently reported skin vascular lesion would raise the role of inheritance and variable expression of such an association especially with concomitant CLE. This may warrant further studies on the etiology of DSH.
对称性色素异常症（DSH）是一种罕见的常染色体显性遗传性色素性皮肤病，其特征为四肢背部出现网状色素沉着过多和色素沉着过少的皮肤斑疹以及面部出现雀斑样斑点，手掌和脚底不受累。文献中未报道过DSH合并皮肤血管瘤的情况。据我们所知，我们首次描述了一例经组织病理学证实患有眼睑血管瘤的DSH病例。
一名25岁女性在童年时被皮肤科医生诊断为DSH，后来发展为皮肤红斑狼疮（CLE）。四年后，她因右下眼睑无痛性肿块前来我们诊所就诊。组织病理学检查显示，混合性毛细血管和海绵状血管瘤上方的表皮有炎症。患者术后皮肤完全愈合，美容效果极佳。
DSH通常是孤立存在的，然而，已有报道称该疾病与肢端肥大、银屑病、牙齿异常、主动脉瓣硬化、肌张力障碍和颅内血管瘤有关。由于缺乏组织诊断，所报道的血管瘤类型未明确。我们的病例很独特，因为这种眼睑皮肤血管瘤出现较晚，同时合并CLE，有甲状腺功能亢进病史，且有近亲结婚的家族史。
DSH的发病机制尚不完全清楚，然而，先前报道的颅内血管瘤和目前报道的皮肤血管病变可能会凸显遗传及这种关联的可变表达的作用，尤其是在合并CLE的情况下。这可能需要对DSH的病因进行进一步研究。
