Isolated cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita (CMTC) is a rare, sporadic congenital vascular disorder of unknown etiology characterized by persistent erythematous-to-violaceous, reticulated, net-like or marbled skin lesions and occasionally ulcers.¹ CMTC is usually present at birth however, there are some cases reported in the literature of delayed onset, with skin changes developing after three months. The lesions can be either localized or generalized, with the localized variant more prevalent and affecting approximately 60% of children. The most commonly affected areas are the lower limbs, although it can also occur on other regions, such as upper limbs, torso and, less frequently, on the face and scalp.²
CMTC remains primarily a clinical diagnosis. Kienast et al. proposed diagnostic criteria that require three major and two minor criteria. The major criteria include congenital marmorated erythema, absence of venectasia by one year of age and lack of response to local warming. Minor criteria include fading of erythema within two years, telangiectasia in the affected area, port-wine stains outside the CMTC area, ulcerations and cutaneous atrophy. However, these criteria have not been validated and histopathological findings in skin biopsies are often nonspecific and inconsistent.^3,4
Although CMTC is often regarded as a benign condition, it can be associated with other anomalies such as limb asymmetry, skeletal anomalies, central nervous system involvement and congenital glaucoma. Individuals with isolated CMTC have no other syndromic features. When suspected, it is essential to conduct a thorough evaluation for associated anomalies, ideally involving a multidisciplinary team that includes a pediatrician, dermatologist, ophthalmologist and eventually an orthopedic surgeon.⁵
CMTC usually does not require any treatment. Typically, the reticular vascular skin pattern improves during the first two years, although complete resolution is rare. Various treatments have been reported including vasodilators, aspirin, pentoxifylline and psoralen plus ultraviolet-A radiation (PUVA), but their efficacy has shown considerable variability. Prognosis is generally good with the majority of patients experiencing improvement of skin lesions.⁶

References :

Matic A, Prcic S, Matic M, Filipovic GV, Ristivojevic A. Cutis marmorata telangiectatica congenita in a preterm newborn - case report and literature review. Iran Red Crescent Med J. 2012;14(9): 578-583. González JB, Martín MMS, Casaño AV. Cutis marmorata telangiectática congenita. Review of 33 cases. An Pediatr. 2008;69(6):557-64. Bui TNPT, Corap A, Bygum A. Cutis marmorata telangiectatica congenita: a literature review. Orphanet J Rare Dis. 2019;14:283. 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(3):319-23. Moreno-Alfonso JC, Caballero AM, Martínez AP. Infrequent associations of cutis marmorata telangiectatica congenita: a two-case report. Cir Pediatr. 2024;37(1):33-36. Maio C, Pomero G, Delogu A, Briatore E, Bertero M, Gancia P. Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literatrure. Ped Med Chir. 2014;36:161-166.