IMAGE OF THE MONTH: May 2023
Abnormal Vessels Everywhere
A 6-year-old female with history of scalp vascular malformations with overlying ulceration and diffuse vascular skin abnormalities presents for retinal evaluation. The patient was born full term via caesarian section. Visual acuity was 20/20 in both eyes with normal intraocular pressures and an unremarkable anterior segment.
DIAGNOSIS
Cutis Marmorata Telangiectatica Congenita with Retinopathy
Discussion
Differential diagnosis includes: Retinopathy of Prematurity (less likely due to full term birth, not requiring oxygen) Incontinentia Pigmenti Coats disease (less likely given bilateral nature) Cutis Marmorata Telangiectatica Congenita
The patient was diagnosed with cutis marmorata telangiectatica congenita (CMTC) at birth. CMTC is a rare congenital cutaneous vascular disorder which typically presents at birth with reticulate erythema and vascular mottling accompanied by occasional ulceration and vascular telegectasia. Ocular involvement, primarily glaucoma and retinal vascular abnormalities, is variable in presentation. However, all patients with suspected CMTC should undergo complete ophthalmic evaluation, including fluorescein angiography, shortly after birth given the potential for significant vision threatening sequelae due to vascular nonperfusion of the retina, neovascularization, and subsequent retinal detachment.
This patient had classic findings of CMTC with reticular vascular mottling and which faded with age. Posterior exam revealed lacy vascular remodeling. Evaluation under anesthesia with fluorescein angiography revealed peripheral nonperfusion with lacy vascular remodeling with terminal bulbs. The patient subsequently underwent panretinal photocoagulation (PRP) to avascular retina without complication. Care for this condition requires a multidisciplinary approach, with glaucoma and pediatric hematology and oncology.
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