We report the case of a boy with cutis marmorata telangiectatica congenita, strokelike episodes, and a pinpoint stenosis of the left internal carotid artery. To our knowledge, this is the first report of a stenosis of an intracranial artery in a patient with cutis marmorata telangiectatica congenita.
Van LohuizenC. Uber eine seltene angeborene Hautanomalie (cutis marmorata teleangiectatica). Acta Derm Venereol. 1922;3:202–211.
2.
KienastAKHoegerPH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009;34:319–323.
3.
DevillersACde Waard-van der SpekFBOranjeAP. Cutis marmorata telangiectatica congenita: clinical features in 35 cases. Arch Dermatol. 1999;135:34–38.
ShirleyMDTangHGallioneCJ. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971–1979.
6.
Clayton-SmithJKerrBBrunnerH. Macrocephaly with cutis marmorata, haemangioma and syndactyly—a distinctive overgrowth syndrome. Clin Dysmorphol. 1997;6:291–302.
7.
MooreCATorielloHVAbueloDN. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997;70:67–73.
8.
GiulianoFDavidAEderyP. Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet. 2004;126A:99–103.
9.
SkariaAMHauserC. Arterieller Verschluss bei cutis marmorata telangiectatica congenital. Hautarzt. 1995;46:35–38.
10.
VogelAMPaltielHJKozakewichHPWBurrowsPEMullikenJBFishmanSJ. Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. J Pediatr Surg. 2005;40:e9–e12.
11.
GruppoRADeGrauwTJPalasisSKalinyakKABofingerMK. Strokes, cutis marmorata telangiectatica congenita, and factor V Leiden. Pediatr Neurol. 1998;18:342–345.
12.
BaxterPGardner-MedwinDGreenSHMossC. Congenital livedo reticularis and recurrent stroke-like episodes. Dev Med Child Neurol. 1993;35:917–921.
13.
WrightDRFriedenIJOrlowSJ. The misnomer “macrocephaly-cutis marmorata telangiectatica congenita syndrome”: report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol. 2009;145:287–293.
14.
OduberCEUvan der HorstCMAMSillevis SmittJH. A proposal for classification of entities combining vascular malformations and deregulated growth. Eur J Med Genet. 2011;54:262–271.