Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Glaucoma

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.


Total: 2

                      


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PMID (PMCID)
9068748
MIXED_SAMPLE Infant, Newborn
Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites.
Chen CP, Chen HC, Liu FF, Jan SW, Chern SR, Wang TY, Hung HY.
Br J Dermatol. 1997;136(2):267-71.
After birth, the neonate had generalized cutis marmorata telangiectatica congenita (CMTC), large vascular plaques on the scalp with superficial ulceration and crusts, a small atrial septal defect, a patent ductus arteriosus, hepatomegaly, micrognathia, seizures, an abnormal electroencephalogram, congenital retinal detachment, glaucoma and widely spaced toes.
9279946
FEMALE
Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy.
Pendergast SD, Trese MT, Shastry BS.
Retina. 1997;17(4):306-9.
While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma.