Microsurgical Resection of an Orbital Arteriovenous Malformation With Intraoperative Digital Subtraction Angiography.
Microsurgical Resection of an Orbital Arteriovenous Malformation With Intraoperative Digital Subtraction Angiography.
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DOI：
10.1097/iop.0000000000001815
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发表时间：
2021-05-01
影响因子：
2
通讯作者：
Kossler AL
中科院分区：
文献类型：
--
作者：
Rosenblatt TR;Myung D;Fischbein NJ;Steinberg GK;Kossler AL
FIG. 5. Full-thickness eyelid biopsy from the 22 year-old man with dense compact collagen, deeper fat seen more superficially, and preservation of the adnexal structures. distinct from the phenotype of our patients. Neurofibromatosis has the unique “bag of worms” consistency with the plexiform neurofibromas which can affect the eyelids. Differential diagnosis of gingival enlargements include other clinical syndromes. Rutherford and Zimmermann-Laband Syndromes are restricted to gingival fibromatosis and delayed tooth eruption. 4, 5 Cowden Syndrome is an autosomal dominant disease involving neoplasias, hypertrichosis, gingival surface papillomas and a mutation in the PTEN gene. 6 Murray-Puretic-Drescher Syndrome is autosomal recessive with gingival hypertrophy and soft tissue swelling. 7 Extensive PubMed search on these diseases did not show eyelid changes present in our patients. We present Hereditary Palpebro-Gingival Fibrosis Syndrome as a new entity distinct from these previously described syndromes and resulting in a characteristic phenotype involving the upper eyelids, lower eyelids, and gingiva. Future presentation of cases would benefit from genetic analysis (such as a search for germline mutations in the PTEN gene) and genetic counseling. Unfortunately, these patients were lost to follow-up following biopsy with start of the political changes in Syria.
