Jarmila Vojtková, Ján Mikler, Eva Hlaučová, Michaela Murgašová, Nadežda Mišovicová, Soňa Málišová
The authors refer the case report about one-month old baby with skin finding of reticular vascular abnormalities predominantly on the left, with asymetric limbs. Other objective findings including neurological were within the physiological range, laboratory parameters without inflammatory activity, mild lower fagocytic activity, karyotype and basic screening of metabolic diseases were without patologic findings. The geneticist and dermatologist pronounced the suspicion for rare disease – cutis marmorata teleangiectatica congenita (CMTC). Considering the possible association of CMTC with other diseases, next investigations were completed – magnetic resonance of brain, eye investigation, echocardiography – without severe abnormalities. The child was released home in stabilized condition with recommendation of dermatologic, genetic and oncologic dispensarisation. CMTC is rare congenital vascular malformation characterized by general or localized reticular net of skin vessels. Worldwide only around 300 cases have been described, till now. The etiopathogenesis remains unclear however insufficient development of mesodermal vessels in early embryonal stage seems to play role together with environmental factors in the genetically predisposed subject. Patients with CMTC have to be followed by specialists due to possible association of this disease with disorders of other organ systems.