Clinical Profile in Genetically Proven Blau Syndrome: A Case Series from South India
Clinical Profile in Genetically Proven Blau Syndrome: A Case Series from South India
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DOI：
10.1080/09273948.2020.1746353
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发表时间：
2020-03-30
影响因子：
3.3
通讯作者：
Rao, Anand P.
中科院分区：
文献类型：
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作者：
Babu, Kalpana;Rao, Anand P.
目的：报告来自印度南部单一中心的7例基因证实的布劳综合征的临床概况。材料与方法：回顾性病例系列结果：女性4例，男性3例。所有病例均有不同程度的皮肤和关节受累史。除病例2外，所有病例均可见近端指间关节屈曲挛缩。眼部受累为双侧，包括干枯性角膜结膜炎（6例）、全葡萄膜肉芽肿性炎（3例）、葡萄膜前肉芽肿性炎（3例）、结膜肉芽肿（3例）、角膜上皮下混浊（1例）、视网膜下肉芽肿（1例）。其他眼部表现包括带状角膜病变（5例）和白内障（3例）。所有病例均接受口服类固醇和甲氨蝶呤治疗，其中一例加用霉酚酸酯。所有病例视力预后良好。结论：Blau综合征在印度的报道不足。这是来自南印度的基因证实的Blau综合征的最大病例系列，突出了在印度看到的Blau综合征的临床概况。
Purpose: To report the clinical profile of genetically proven Blau syndrome in seven cases from a single center in South India. Materials & Methods: Retrospective case series Results: There were four females and three males. All cases had a history of skin and joint involvement of varying severity. Flexion contractures of the proximal interphalangeal joints were seen in all cases except Case 2. Ocular involvement was bilateral and included keratoconjunctivitis sicca (six cases), granulomatous panuveitis (three cases), granulomatous anterior uveitis (three cases), conjunctival granulomas (three cases), subepithelial corneal opacities (one case), and subretinal granuloma (one case). Other ocular findings included band-shaped keratopathy (five cases) and cataract (three cases). All cases received oral steroids and methotrexate with an addition of mycophenolate mofetil in one case. Visual prognosis was good in all cases. Conclusions: Blau syndrome is underreported in India. This is the largest case series of genetically proven Blau syndrome from South India and highlights the clinical profile of Blau syndrome seen in India.