PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma
PHACE(S) syndrome is a neurocutaneous disorder with a hallmark finding of an infantile facial hemangioma (IFH) >5 cm. Eye examination of patients with PHACE(S) syndrome with no IFH at periorbital region is reported to be of low yield. We report a unique case of the syndrome with ocular manife...
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| Format: | Article |
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Karger Publishers
2023-09-01
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| Series: | Case Reports in Ophthalmology |
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| Online Access: | https://beta.karger.com/Article/FullText/533887 |
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| author | Aisha Sheriff Kalambe Kazunobu Sugihara Kei Yamamoto Sakiko Kawano Chigusa Oyama Takeshi Taketani Kenji Hayashida Masaki Tanito |
| author_facet | Aisha Sheriff Kalambe Kazunobu Sugihara Kei Yamamoto Sakiko Kawano Chigusa Oyama Takeshi Taketani Kenji Hayashida Masaki Tanito |
| author_sort | Aisha Sheriff Kalambe |
| collection | DOAJ |
| description | PHACE(S) syndrome is a neurocutaneous disorder with a hallmark finding of an infantile facial hemangioma (IFH) >5 cm. Eye examination of patients with PHACE(S) syndrome with no IFH at periorbital region is reported to be of low yield. We report a unique case of the syndrome with ocular manifestations without periorbital IFH or systemic findings. A 3-week-old female infant with right periauricular IFH >5 cm, extending to the neck and cheek and lower lip IFH was presented. Examination revealed pseudoptosis due to microphthalmia with esotropia and hypertropia. Both corneas were clear with diameters of 5 mm and 10 mm, right eye (RE) and left eye (LE), respectively. There was a posterior polar cataract with a poor view of the fundus RE. Ocular B-scan and magnetic resonance imaging (MRI) findings were suggestive of a dysmorphic globe, vitreous hemorrhage, spherophakia and persistent fetal vasculature RE and normal findings LE. Clinical evaluation, MRI, and MR angiography revealed no other systemic abnormalities. Subsequent follow-up visits revealed progressive clouding of the cornea with neovascularization and the development of phthisis bulbi RE at which point an ocular prosthesis was placed. The IFH was managed with dye laser and with oral propranolol. At 1 year, the patient has remained stable with no development of new local or systemic anomalies, regression of the periauricular and lip IFH, and normal development of the orbital structure RE with an ocular prosthesis in situ. Ocular involvement in patients with PHACE(S) syndrome may be present without periorbital IFH. Regardless of the location of the IFH and the presence or absence of a periocular component, it is recommended that they receive a full initial ophthalmological assessment. |
| first_indexed | 2024-03-11T17:24:57Z |
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| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-03-11T17:24:57Z |
| publishDate | 2023-09-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Ophthalmology |
| spelling | doaj.art-94d1b5e0d94f4c958be94ad96495f8512023-10-19T06:45:47ZengKarger PublishersCase Reports in Ophthalmology1663-26992023-09-0114147748310.1159/000533887533887PHACE(S) Syndrome with Ocular Involvements and No Periocular HemangiomaAisha Sheriff Kalambe0Kazunobu Sugihara1Kei Yamamoto2Sakiko Kawano3Chigusa Oyama4Takeshi Taketani5Kenji Hayashida6Masaki Tanito7Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Ophthalmology, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Izumo, JapanDivision of Plastic and Reconstructive Surgery, Shimane University Faculty of Medicine, Izumo, JapanDepartment of Ophthalmology, Shimane University Faculty of Medicine, Izumo, JapanPHACE(S) syndrome is a neurocutaneous disorder with a hallmark finding of an infantile facial hemangioma (IFH) >5 cm. Eye examination of patients with PHACE(S) syndrome with no IFH at periorbital region is reported to be of low yield. We report a unique case of the syndrome with ocular manifestations without periorbital IFH or systemic findings. A 3-week-old female infant with right periauricular IFH >5 cm, extending to the neck and cheek and lower lip IFH was presented. Examination revealed pseudoptosis due to microphthalmia with esotropia and hypertropia. Both corneas were clear with diameters of 5 mm and 10 mm, right eye (RE) and left eye (LE), respectively. There was a posterior polar cataract with a poor view of the fundus RE. Ocular B-scan and magnetic resonance imaging (MRI) findings were suggestive of a dysmorphic globe, vitreous hemorrhage, spherophakia and persistent fetal vasculature RE and normal findings LE. Clinical evaluation, MRI, and MR angiography revealed no other systemic abnormalities. Subsequent follow-up visits revealed progressive clouding of the cornea with neovascularization and the development of phthisis bulbi RE at which point an ocular prosthesis was placed. The IFH was managed with dye laser and with oral propranolol. At 1 year, the patient has remained stable with no development of new local or systemic anomalies, regression of the periauricular and lip IFH, and normal development of the orbital structure RE with an ocular prosthesis in situ. Ocular involvement in patients with PHACE(S) syndrome may be present without periorbital IFH. Regardless of the location of the IFH and the presence or absence of a periocular component, it is recommended that they receive a full initial ophthalmological assessment.https://beta.karger.com/Article/FullText/533887phace(s) syndromeisolated ocular involvementinfantile hemangioma |
| spellingShingle | Aisha Sheriff Kalambe Kazunobu Sugihara Kei Yamamoto Sakiko Kawano Chigusa Oyama Takeshi Taketani Kenji Hayashida Masaki Tanito PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma Case Reports in Ophthalmology phace(s) syndrome isolated ocular involvement infantile hemangioma |
| title | PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma |
| title_full | PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma |
| title_fullStr | PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma |
| title_full_unstemmed | PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma |
| title_short | PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma |
| title_sort | phace s syndrome with ocular involvements and no periocular hemangioma |
| topic | phace(s) syndrome isolated ocular involvement infantile hemangioma |
| url | https://beta.karger.com/Article/FullText/533887 |
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