CUTIS MARMORATA TELANGIECTATICA CONGENITA: A CASE REPORT

Introduction: A very rare congenital vascular malformation − Cutis marmorata telangiectatica congenita, also known as Van Lohuizen syndrome is characterised by the presence of a bluish-violet reticulated. Although this malformation has been known for over a century and 485 cases have been reported up to the year 2019, the aetiology is still not clearly understood. On the contrary, the prognosis is good for this vascular malformation, as the changes usually 'fade' by the age of two, provided there are no associated anomalies. Our aim is to present such a case, which was seen for the first time during the long-term practice with pre-school patients at the Health Centre in Niš. Case report: The vascular malformation, diagnosed as cutis marmorata telangiectatica congenita, was located on the left leg, from the gluteal region to the lower quarter of the anterior crural region, i.e. the calcaneal region (posterior), and on the left lumbar region of the back in a male infant. All recommended tests and necessary consultations with other specialists were carried out. Apart from a slight left-right difference in the circumference of the lower limbs, no other variations or abnormalities were found. Conclusion: The unclear cause and the rarity of this vascular malformation (cutis marmorata telangiectatica congenita), although transient, inspired the author to present it, as it was her first discovery in 23 years of paediatric practice.