Cutis marmorata telangiectatica congenita: Atypical dermatological manifestations and associated comorbidities

Summary: Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare vascular malformation characterized by reticulated, erythematous patches that typically present at birth, often accompanied by skin atrophy, limb asymmetry, and ulceration. These abnormalities can significantly affect patient quality of life, leading to cosmetic concerns, physical discomfort, and functional impairments. Beyond its common dermatologic manifestations, CMTC can present with atypical skin findings and is associated with systemic comorbidities, highlighting the need for multidisciplinary management. To explore these associations, we conducted a comprehensive review of case reports and case series published on PubMed over the past 10 years. Thirty-nine studies met our search criteria, encompassing 48 subjects, of which half presented with either uncommon dermatologic features or comorbid conditions. Dermatologic anomalies, such as phacomatosis pigmentovascularis and infantile hemangioma, were reported in 23% of cases. Ocular conditions, such as glaucoma, retinal nonperfusion, and neovascularization, affected 19% of patients. Systemic conditions, including hypothyroidism and exercise-induced transient edema, along with rare conditions such as Sturge-Weber syndrome and Rubinstein-Taybi syndrome, occurred in 15% of patients. Neurological anomalies, including transient ischemic attacks and learning disabilities, as well as vascular anomalies, such as hypertension and cardiac defects, were observed in 4% of patients. Musculoskeletal defects, such as syndactyly, were only observed in 2% of patients. These findings illustrate the complex nature of CMTC and underscore the importance of comprehensive, multidisciplinary care. Further research is necessary to advance our understanding of this rare condition.