PHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature

Nayak, Lipika; Nayak, Bhagabat; Sinha, Gautam; Khokhar, Sudarshan

doi:10.1136/bcr-2016-214724

Cited by 3 publications

(2 citation statements)

References 8 publications

(5 reference statements)

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“…Even though ocular abnormalities are part of PHACES syndrome, Samuelov et al [5] reported that most ocular complications observed in their cohort of 30 patients over 15 years, were secondary to the presence of the large periocular hemangioma itself and were not specific to PHACE(S) syndrome. Nayak et al [10] reported a case similar to ours, an 11-month-old female presented with facial IFH involving the lower lid only, with PFV, VH, and congenital cataract with microphthalmia. She had no associated systemic anomalies.…”

Section: Discussionsupporting

confidence: 76%

PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma

Kalambe,

Sugihara,

Yamamoto

et al. 2023

Case Rep Ophthalmol

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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.

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Section: Discussionsupporting

confidence: 76%

PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma

Kalambe,

Sugihara,

Yamamoto

et al. 2023

Case Rep Ophthalmol

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“…Despite its rarity, the presence of lip hemangiomas seems to be associated with a high risk of recurrent late growth hemangiomas after the end of therapy and with a high risk of recurrent ulceration [ 26 ]. Ulcerated upper lip hemangiomas are frequently associated with eyelid ulcerated hemangiomas [ 27 ] or microphthalmia in PHACE syndrome [ 28 ]. Our case presented upper and lower lip ulcerated hemangiomas that were not associated with other facial ulcerated hemangiomas.…”

Section: Discussionmentioning

confidence: 99%

“Face(s)” of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature

et al. 2022

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A rare, uncommon disorder called PHACE(S) (P-posterior fossa anomalies, H-hemangioma, A-arterial anomalies, C-cardiac anomalies, E-eye anomalies, and S-sternal cleft) of unknown etiology was rarely reported. Children are susceptible to developing PHACE(S) syndrome from the moment they are born. It may be challenging for a physician to appropriately diagnose and treat children with PHACE due to the multifaceted nature of the disease and the extensive range of consequences that may be associated with it. A one-month-old newborn girl was admitted to hospital with extensive, multiple facial infantile hemangiomas, ulceration of the lower lip hemangioma-like lesion, cardiovascular, sternal, and neurological concomitant malformations. Five days following the initial application of the medication, systemic treatment with propranolol and topical treatment with silver sulfadiazine produced their first noticeable benefits. The lip ulceration was mostly healed and facial hemangioma started to regress. The regression continued under therapy and this effect persists for 6 months since Propranolol therapy ended. No cardiovascular or neurological clinical events have been registered during follow-up. The present case has three peculiarities: (1) high number of facial hemangiomas; (2) presence of subependymal cyst not yet reported in the literature associated with PHACE syndrome; and (3) lack of cardiovascular events during therapy knowing that these events frequently appear in PHACE syndrome patients.

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