CASE REPORT
Newborn with cutis marmorata telangiectatica congenita: a case report and review of the literature
More details
Hide details
1
Student Scientific Association ‘ProNeo’ at the Department of Neonatology and Rare Diseases, Children’s Clinical Hospital, Medical University of Warsaw, Poland
2
Department of Neonatology and Rare Diseases, Children’s Clinical Hospital, Medical University of Warsaw, Poland
Submission date: 2025-03-20
Final revision date: 2025-06-06
Acceptance date: 2025-06-12
Publication date: 2025-09-29
Pediatr Pol 2025;61(3):276-280
KEYWORDS
TOPICS
ABSTRACT
Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular disorder characterized by persistent marbled erythema, vascular telangiectasia, and skin atrophy, with unknown etiology and prevalence. Associated congenital abnormalities occur in up to 80% of patients. Here, we presented a case of female neonate, born at 42+1/7 weeks of gestation, who presented with bluish-red skin discoloration, marbled erythema, telangiectasias, and cutaneous atrophy. The newborn was transferred on the first day of life to our center due to suspected vascular malformations and for differential diagnosis. After admission to department, medical examination, imaging, and laboratory tests were performed. Clinical presentation was clearly suggestive of CMTC. In order to exclude other anomalies, multispecialty consultations were recommended. The newborn was discharged home on day 14th of life. Suspected CMTC requires thorough differential diagnosis. Patients with CMTC require regular follow-up visits to detect possible subsequent complications in the early stages of life.
REFERENCES (13)
1.
Ghotbabadi SH, Barzegar H, Abdolvand M. Generalized cutis marmorata telangiectatica congenita or neonatal lupus? A case report and literature review. Clin Case Rep 2024; 12: e8898. DOI: 10.1002/ccr3.8898.
2.
Moreno-Alfonso JC, Molina Caballero A, Pérez Martínez A. Infrequent associations of cutis marmorata telangiectatica congenita: a two-case report. Cir Pediatr 2024; 37: 33-36.
3.
Tamburro J, Traboulsi EI, Patel MS. Isolated and classic cutis marmorata telangiectatica congenita. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
4.
Bui TNPT, Corap A, Bygum A. Cutis marmorata telangiectatica congenita: a literature review. Orphanet J Rare Dis 2019; 14: 283. DOI: 10.1186/s13023-019-1229-8.
5.
Amaral J, Peixoto S, Mimoso G, et al. Cutis marmorata telangiectatica congenita and major lower limb asymmetry. BMJ Case Rep 2018; 2018: bcr2017222269. DOI: 10.1136/bcr-2017-222269.
6.
Matic A, Pricic S, Matic M, et al. Cutis marmorata telangiectatica congenita in a preterm newborn – case report and literature review. Iran Red Crescent Med J 2012; 14: 578-583.
7.
Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J 2014; 5: 80-82.
8.
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.
9.
Couto JA, Ayturk UM, Konczyk DJ, et al. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis 2017; 20: 303-306.
10.
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.
11.
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.
12.
Makita LS, Muniz BC, Medina FMC. Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases. Arq Bras Oftalmol 2020; 83: 239-241.
13.
Ergon EY, Çelik K, Çolak R, et al. A rare vascular lesion of newborn: cutis marmorata telangiectatica congenita. Turk Pediatri Ars 2019; 54: 133-136.