Clinical presentation, risk factors, and comorbidities of cutis marmorata telangiectatica congenita: a systematic...

Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular disorder characterized by reticulated erythematous or violaceous patches, often accompanied by complications such as ulceration, atrophy, and limb asymmetry. Despite its rarity, CMTC poses diagnostic and prognostic challenges, necessitating a clearer understanding of its clinical course and associated comorbidities.

A systematic literature search was conducted using PubMed to identify case reports and case series published in the last five years. Inclusion criteria encompassed studies reporting clinical findings, associated comorbidities and long-term outcomes of CMTC. Data extraction focused on lesion characteristics, anatomical distribution, associated complications, and comorbidities.

Nineteen articles were identified, encompassing 22 cases ranging from neonates to adolescents. Most lesions were localized, primarily affecting the lower extremities (55%), while 41% exhibited generalized involvement. Lesions remained stable or improved over time. Complications included atrophy (41%), limb asymmetry (32%), and ulceration (18%). Associated comorbidities were reported in 50% of cases, with ophthalmologic anomalies, such as retinal nonperfusion and neovascularization, being the most common.

The limited availability of clinical trials and longitudinal follow-up data highlights significant gaps in understanding CMTC's long-term progression and outcomes. Further robust longitudinal studies are necessary to enhance clinical management and prognostic guidance for affected patients.

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder with variable presentation and frequent comorbidities. This systematic review synthesizes recent pediatric cases, highlighting key features such as limb asymmetry, atrophy, and ulceration, and identifying ophthalmologic involvement as the most common complication. By underscoring the high rate of comorbidities and the psychosocial impact of visible lesions, our study reinforces the need for multidisciplinary care. It also identifies gaps in long-term outcome data and standardized management, providing a foundation for future prospective research to improve clinical recognition, prognostic accuracy, and patient care.

This systematic review synthesizes recent case reports and series of CMTC, defining its variable clinical features, risk factors, and comorbidities, emphasizing the need for multidisciplinary care. It provides the most up-to-date summary of CMTC within the past five years, identifying ophthalmologic anomalies as the most frequent comorbidity and underrecognized features such as limb asymmetry and lesion stability. This systematic review exposes critical gaps in long-term follow-up and standardized management, emphasizing the need for prospective studies. Findings support routine ophthalmologic screening and individualized care in pediatric patients, even in the absence of systemic symptoms.