Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors

Ischemic Proliferative Retinopathy in a Korean Patient with Cutis Marmorata Telangiectatica Congenita: A Case Report

“…[3] Ocular abnormalities include glaucoma, retinal vascular abnormalities, retinal perfusion defects, and retinal detachments. [4,5] Herein, we report a case of ischemic proliferative retinopathy in a Korean patient with CMTC.…”

“…Systemic manifestations related to CMTC include body asymmetry, syndactyly, neurological disorders, and ocular abnormalities [ 3 ]. Ocular abnormalities include glaucoma, retinal vascular abnormalities, retinal perfusion defects, and retinal detachments [ 4 , 5 ]. Herein, we report a case of ischemic proliferative retinopathy in a Korean patient with CMTC.…”

Letter to the Editor regarding “Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition”

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We read with interest the recent publication, "Cutis marmorata telangiectatica congenita: Incidence of extracutaneous manifestations and a proposed clinical definition," by Downey et al 1 We find it curious that retinal abnormalities were not included in this manuscript. Several publications have described ocular findings in patients with cutis marmorata, [2][3][4] including "Ocular manifestations of cutis marmorata telangiectatica congenita" 5 which described a series of nine pediatric CMTC cases (18 eyes) with significant retinal findings including retinal detachment (2 eyes), abnormal retinal vasculature (8 eyes), and retinal vascular nonperfusion (11 eyes). Most of these findings were not detected at routine pediatric ophthalmology evaluations and required fluorescein angiography.Since publication of this manuscript, 8 patients were evaluated in our Ophthalmology clinic, of which 6 patients underwent fluorescein angiography under anesthesia given the inability to do this assessment in office in this age group.

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Persistent generalized cutis marmorata telangiectatica congenita with venectasia

“…It was recognized for the first time in 1922 by Von Lohuizen, and only 300 cases have been described till date. [ 1 ] It is a benign angiomatous abnormality usually seen at birth. The skin lesions are asymmetrical, localized, or generalized red or purple reticulated and anastomosed macules.…”

“…CMTC is diagnosed clinically, typically at birth or in the early postnatal period, based on the pentad of cutis marmorata, telangiectasia, phlebectasia, ulceration, and gradual symptom improvement. [ 1 ] The skin changes at birth are found in 95% of cases in most series of CMTC. [ 2 ] It tends to fade in color with time, often within the first 2 years of life, which allows for an accurate retrospective diagnosis attributing to skin maturation.…”