Geburtshilfe Frauenheilkd 2019; 79(05): 466-469
DOI: 10.1055/a-0824-4757
GebFra Magazin
Der interessante Fall
Georg Thieme Verlag KG Stuttgart · New York

Cutis marmorata teleangiectatica congenita – eine Diagnose mit Seltenheitswert

Philipp Guttenberg
,
Johannes Gebhardt
,
Jessica Marrocco
,
Anne Sturm
,
Ricardo Felberbaum
,
Alexander Puhl
Further Information

Publication History

Publication Date:
21 May 2019 (online)

Als „Kolibri“ unter den kongenitalen Gefäßerkrankungen bekommt man die Cutis marmorata teleangiectatica nur selten zu Gesicht. Meist wird sie direkt postpartal auffällig, in seltenen Fällen tritt sie jedoch erst nach bis zu 2 Lebensjahren in Erscheinung [1]. Es existieren derzeit etwa 300 in der Literatur beschriebene Fälle, während die Dunkelziffer sicherlich deutlich höher ist [2], [3].

 
  • Literatur

  • 1 Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: Clinical features in 35 cases. Arch Dermatol 1999; 135: 34-38
  • 2 Amitai DB, Fichman S, Merlob P. et al. Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatr Dermatol 2000; 17: 100-104
  • 3 Ben-Amitai D, Merlob P, Metzker A. Cutis marmorata telangiectatica congenita and hypospadias: Report of 4 cases. J Am Acad Dermatol 2001; 45: 131-132 doi:10.1067/mjd.2001.112383
  • 4 Van Lohuizen CHJ. Ueber eine seltene angeborene Hautanomalie. (Cutis marmorata teleangiectatica congenita). Acta Dermato-Venerologica 1922; 3: 202-211
  • 5 Picascia DD, Esterly NB. Cutis marmorata telangiectatica congenita: Report of 22 cases. J Am Acad Dermatol 1989; 20: 1098-1104
  • 6 Cohen PR, Zalar GL. Cutis marmorata telangiectatica congenita: Clinicopathologic characteristics and differential diagnosis. Cutis 1988; 42: 518-522
  • 7 Rupprecht R, Hundeiker M. Cutis marmorata teleangiectatica congenita. Wichtige Aspekte für die dermatologische Praxis. Hautarzt 1997; 48: 21-25
  • 8 South DA, Jacobs AH. Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia). J Pediatr 1978; 93: 944-949
  • 9 Kennedy C, Oranje AP, Keizer K. et al. Cutis marmorata telangiectatica congenita. Int J Dermatol 1992; 31: 249-252
  • 10 Powell ST, Su WP. Cutis marmorata telangiectatica congenita: Report of nine cases and review of the literature. Cutis 1984; 34: 305-312
  • 11 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
  • 12 Andreev VC, Pramatarov K. Cutis mamorata telangiectatica congenita in two sisters. Br J Dermatol 1979; 101: 345-350
  • 13 de Maio C, Pomero G, Delogu A. et al. Cutis marmorata telangiectatica congenita in a preterm female newborn: Case report and review of the literature. Pediatr Med Chir 2014; 36: 90 doi:10.4081/pmc.2014.90
  • 14 Rogers M, Poyzer KG. Cutis marmorata telangiectatica congenita. Arch Dermatol 1982; 118: 895-899
  • 15 Chen CP, Chen HC, Liu FF. et al. 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
  • 16 Bhargava P, Kuldeep CM, Mathur NK. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Further clues for a teratogenic cause. Dermatology 1998; 196: 368-370
  • 17 Kurczynski TW. Hereditary cutis marmorata telangiectatica congenita. Pediatrics 1982; 70: 52-53
  • 18 Happle R. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16: 899-906
  • 19 Way BH, Herrmann J, Gilbert EF. et al. Cutis marmorata telangiectatica congenita. J Cutan Pathol 1974; 1: 10-25
  • 20 Fujita M, Darmstadt GL, Dinulos JG. Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. J Am Acad Dermatol 2003; 48: 950-954 doi:10.1067/mjd.2003.301
  • 21 Kienast AK, Hoeger PH. 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 doi:10.1111/j.1365-2230.2008.03074.x
  • 22 Chatterjee R, Dey S. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. Indian J Dermatol 2009; 54: 375-377 doi:10.4103/0019-5154.57618
  • 23 Petrozzi JW, Rahn EK, Mofenson H. et al. Cutis marmorata telangiectatica congenita. Arch Dermatol 1970; 101: 74-77
  • 24 Garzon MC, Schweiger E. Cutis marmorata telangiectatica congenita. Semin Cutan Med Surg 2004; 23: 99-106 doi:10.1016/j.sder.2004.01.003
  • 25 Hinek A, Jain S, Taylor G. et al. High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita. Am J Med Genet A 2008; 146 A: 2520-2527 doi:10.1002/ajmg.a.32474
  • 26 Vogel AM, Paltiel HJ, Kozakewich HPW. et al. Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. J Pediatr Surg 2005; 40: e9-e12 doi:10.1016/j.jpedsurg.2005.03.068
  • 27 Mazereeuw-Hautier J, Carel-Caneppele S, Bonafé JL. Cutis marmorata telangiectatica congenita: report of two persistent cases. Pediatr Dermatol 2002; 19: 506-509
  • 28 del Boz González J, Serrano Martín MM, Vera Casaño A. Cutis marmorata telangiectásica congénita. Revisión de 33 casos. Anales de Pediatría 2008; 69: 557-564 doi:10.1016/S1695-4033(08)75239-1
  • 29 Levy R, Lam JM. Cutis marmorata telangiectatica congenita: A mimicker of a common disorder. CMAJ 2011; 183: E249-E251 doi:10.1503/cmaj.091749
  • 30 Ilhan O, Ozer EA, Ozdemir SA. et al. Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. Arch Argent Pediatr 2016; 114: e111-e113 doi:10.5546/aap.2016.eng.e111
  • 31 Gonzalez ME, Burk CJ, Barbouth DS. et al. Macrocephaly-capillary malformation: A report of three cases and review of the literature. Pediatr Dermatol 2009; 26: 342-346 doi:10.1111/j.1525-1470.2009.00924.x
  • 32 Wright DR, Frieden IJ, Orlow SJ. et al. 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 doi:10.1001/archdermatol.2008.545
  • 33 Weilepp AE, Eichenfield LF. Association of glaucoma with cutis marmorata telangiectatica congenita: A localized anatomic malformation. J Am Acad Dermatol 1996; 35 (2 Pt 1): 276-278
  • 34 Sato SE, Herschler J, Lynch PJ. et al. Congenital glaucoma associated with cutis marmorata telangiectatica congenita: Two case reports. J Pediatr Ophthalmol Strabismus 1988; 25: 13-17
  • 35 Mayatepek E, Krastel H, Volcker HE. et al. Congenital glaucoma in cutis marmorata teleangiectatica congenita. Ophthalmologica 1991; 202: 191-193
  • 36 Vazquez F, Lopez B, Requena L. et al. Congenital glaucoma and cutis marmorata telangiectatica: Report of the second case. Dermatologica 1988; 177: 193-194
  • 37 Miranda I, Alonso MJ, Jimenez M. et al. Cutis marmorata telangiectatica congenita and glaucoma. Ophthalmic Paediatr Genet 1990; 11: 129-132
  • 38 Shields JA, Shields CL, Koller HP. et al. Cutis marmorata telangiectatica congenita associated with bilateral congenital retinal detachment. Retina 1990; 10: 135-139
  • 39 Balazsi G, Polomeno RC, Duperrem J. New findings related to IOP elevation in CMTC. J Pediatr Ophthalmol Strabismus 1990; 27: 164
  • 40 Murphy CC, Khong CH, Ward WJ. et al. Late-onset pediatric glaucoma associated with cutis marmorata telangiectatica congenita managed with Molteno implant surgery: Case report and review of the literature. J AAPOS 2007; 11: 519-521 doi:10.1016/j.jaapos.2007.03.015
  • 41 Del Giudice SM, Nydorf ED. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Arch Dermatol 1986; 122: 1060-1061
  • 42 Gerritsen MJ, Steijlen PM, Brunner HG. et al. Cutis marmorata telangiectatica congenita: Report of 18 cases. Br J Dermatol 2000; 142: 366-369
  • 43 Trevisan F, Cunha PR, Pinto CAL. et al. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. An Bras Dermatol 2013; 88: 428-431 doi:10.1590/abd1806-4841.20131832