title: Cutis marmorata telangiectatica congenita with cerebral and ophthalmic anomalies: report of one case.
abstract: A term male neonate had an uncommon congenital vascular disorder of the skin covering the whole body and extremities. These skin lesions were characterized by mottling and persistent telangiectasia. A skin biopsy showed nevus vascularis reticularis which was recognized as cutis marmorata telangiectatica congenita. In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye. Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage. Cutis marmorata telangiectatica congenita may be solitary but is frequently associated with other developmental defects. However, the specific findings of cerebral and ophthalmic lesions in our case were rather unusual.
authors.affiliation: Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, Taiwan, R.O.C.
authors.forename: S C
authors.initials: SC
authors.lastname: Mu
authors.forename: H Y
authors.initials: HY
authors.lastname: Hung
authors.forename: N C
authors.initials: NC
authors.lastname: Chiu
authors.forename: H H
authors.initials: HH
authors.lastname: Chen
authors.forename: L J
authors.initials: LJ
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012871:Skin Diseases / Q000150:complications*; D013684:Telangiectasis / Q000150:complications*