A cutis marmorata teleangiectatica congenita ritka, általában veleszületett, generalizált vagy lokális cutan érfejlődési rendellenesség, amit jellegzetes tünetek alapján diagnosztizálnak (a bőr tartós márványozottsága, teleangiectasia, phlebectasia, esetleg ulceratio, atrophia), és amely hajlamot mutat klinikai javulásra. Az irodalom eddig közel 300 betegről számolt be. A szerzők jelen dolgozatukban bemutatnak egy esetet, amelyben a klinikai tünetek (a skalpon tág vénák, kétoldali bőrulceratio, testszerte márványozott bőr, a mellkason teleangiectasia) alapján cutis marmorata teleangiectatica congenitát diagnosztizáltak, egyéb társuló rendellenesség nélkül. Az eset kapcsán a szerzők az irodalmat is áttekintik.
Amitai, D. B., Fichman, S., Merlob, P. és mtsai: Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatr. Dermatol., 2000, 17 , 100–104.
Merlob P. , 'Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients ' (2000 ) 17 Pediatr. Dermatol. : 100 -104.
Yi, G., Oh, M.: Cutis marmorata telangiectatica congenita: early detection in two premature infants. Pediatr. Dermatol., 2000, 17 , 240–241.
Oh M. , 'Cutis marmorata telangiectatica congenita: early detection in two premature infants ' (2000 ) 17 Pediatr. Dermatol. : 240 -241.
Pehr, K., Moroz, B.: Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pediatr. Dermatol., 1993, 10 , 6–11.
Moroz B. , 'Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism ' (1993 ) 10 Pediatr. Dermatol. : 6 -11.
Picascia, D. D., Esterly, N. B.: Cutis marmorata telangiectatica congenita: report of 22 cases. J. Am. Acad. Dermatol., 1989, 20 , 1098–1104.
Esterly N. B. , 'Cutis marmorata telangiectatica congenita: report of 22 cases ' (1989 ) 20 J. Am. Acad. Dermatol. : 1098 -1104.
South, D. A., Jacobs, A. H.: Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia). J. Pediatr., 1978, 93 , 944–949.
Jacobs A. H. , 'Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia) ' (1978 ) 93 J. Pediatr. : 944 -949.
Gerritsen, M. J. P., Steijlen, P. M., Brunner, H. G. és mtsa: Cutis marmorata telangiectatica congenita: report of 18 cases. Br. J. Dermatol., 2000, 142 , 366–369.
Brunner H. G. , 'Cutis marmorata telangiectatica congenita: report of 18 cases ' (2000 ) 142 Br. J. Dermatol. : 366 -369.
Lapunzina, P., Gairí, A., Delicado, A. és mtsai: Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am. J. Med. Genet. A., 2004, 130 , 45–51.
Delicado A. , 'Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review ' (2004 ) 130 Am. J. Med. Genet. A. : 45 -51.
Nyberg, R. H., Uotila, J., Kirkinen, P. és mtsa: Macrocephaly-cutis marmorata telangiectatica syndrome – prenatal signs in ultrasonography. Prenat. Diagn., 2005, 25 , 129–132.
Kirkinen P. , 'Macrocephaly-cutis marmorata telangiectatica syndrome – prenatal signs in ultrasonography ' (2005 ) 25 Prenat. Diagn. : 129 -132.
Devillers, A. A. C., de Waard-van der Spek, F. B., Oranje, A. P.: Cutis marmorata telangiectatica congenita: clinical features in 35 cases. Arch. Dermatol., 1999, 135 , 34–38.
Oranje A. P. , 'Cutis marmorata telangiectatica congenita: clinical features in 35 cases ' (1999 ) 135 Arch. Dermatol. : 34 -38.
Anand, N. K., Pannu, M. S., Singh, P.: Cutis marmorata telangiectatica congenita. Indian Pediatr., 2002, 39 , 203.
Singh P. , 'Cutis marmorata telangiectatica congenita ' (2002 ) 39 Indian Pediatr. : 203 -.
Carrascosa, J. M., Ribera, M., Bielsa, I. és mtsai: Cutis marmorata telangiectatica congenita or neonatal lupus?. Pediatr. Dermatol., 1996, 13 , 230–232.
Bielsa I. , 'Cutis marmorata telangiectatica congenita or neonatal lupus? ' (1996 ) 13 Pediatr. Dermatol. : 230 -232.
Chen, C. P., Chen, H. C., Liu, F. F. és mtsai: Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. Br. J. Dermatol., 1997, 136 , 267–271.
Liu F. F. , 'Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites ' (1997 ) 136 Br. J. Dermatol. : 267 -271.
Mazereeuw-Hautier, J., Carel-Caneppele, S., Bonafe, J. L.: Cutis marmorata telangiectatica congenita: report of two persistent cases. Pediatr. Dermatol., 2002, 19 , 506–509.
Bonafe J. L. , 'Cutis marmorata telangiectatica congenita: report of two persistent cases ' (2002 ) 19 Pediatr. Dermatol. : 506 -509.
Erdal, E., Zalewska, A., Onder, M. és mtsai: Cutis Marmorata Telangiectatica Congenita. www.emedicine.com/derm/ topic793.htm
Krause, M. H., Bonnekoh, B., Weisshaar, E. és mtsa: Coincidence of multiple, disseminated, tardive-eruptive blue nevi with cutis marmorata teleangiectatica congenita. Dermatology, 2000, 200 , 134–138.
Weisshaar E. , 'Coincidence of multiple, disseminated, tardive-eruptive blue nevi with cutis marmorata teleangiectatica congenita ' (2000 ) 200 Dermatology : 134 -138.
Morgan, J. M., Naisby, G. P., Carmichael, A. J.: Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br. J. Dermatol., 1997, 137 , 119–122.
Carmichael A. J. , 'Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins ' (1997 ) 137 Br. J. Dermatol. : 119 -122.
Vogel, A. M., Paltiel, H. J., Kozakewich, H. P. és mtsai: Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. J. Pediatr. Surg., 2005, 40 , e9–12.
Kozakewich H. P. , 'Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita ' (2005 ) 40 J. Pediatr. Surg. : e9 -12.