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A newborn female had abnormal cutaneous blood vessels (Fig. 1). The diagnosis of simple cutis marmorata was eliminated because the lesion persisted despite providing local warming. The patient was diagnosed with cutis marmorata telangiectatica congenita (CMTC) after satisfying the three major criteria proposed by Kienast et al. [1]. Biopsy, Doppler ultrasound, or genetic testing was not performed for diagnosing CMTC. She is now 2-y-old and lives without any inconvenience. Her leg movements are normal, and limb-length discrepancy and glaucoma were not detected. However, she still has a cutaneous vascular network, although its color has slightly improved.
More than 300 cases have been reported in the literature to date [2]. However, in mild cases, like this one, CMTC may not be recognized, thereby causing the real number of cases to be underestimated. The pathogenesis of this disorder is unknown and may lead to complications, such as body asymmetries (e.g., asymmetries in the limbs and a large head), skin atrophy, and neurological abnormalities. Healthcare professionals should be aware of glaucoma and leg length discrepancy as possible complications of CMTC, which may have serious consequences if not recognized and treated [3]. Mild CMCT, which is often overlooked, needs to be reliably diagnosed and monitored for a long time.
References
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;34:319–23.
Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol. 2000;17:100–4.
Bui TNPT, Corap A, Bygum A. Cutis marmorata telangiectatica congenita: a literature review. Orphanet J Rare Dis. 2019;14:283.
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Kakiuchi, T., Yoshiura, M. Dark Red Reticulated Cutaneous Vascular Network on the Lower Limb. Indian J Pediatr 91, 194 (2024). https://doi.org/10.1007/s12098-023-04680-z
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DOI: https://doi.org/10.1007/s12098-023-04680-z