Van Lohuizen Syndrome, a Late-Diagnosed Case in an 18 Years-Old Female

Cutis Marmorata Telangiectatica Congenita is a very rare birth defect involving cutaneous blood vessels. Of unknown cause, uncertain pathophysiology, unclear epidemiology. Described as a localized, or generalized marbled skin appearance (cutis marmarota), in addition to the skin, it may involve any other body organs, with, or without a wide variety of associated congenital anomalies.Kato van Lohuizen described the first case in 1922. Since then, there have been less than 300 cases reported worldwide to date. We are adding one more case, and the first reported in Libya.

Characterization of Clinical Outcomes in Patients with Cutis Marmorata Telangiectatica Congenita

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, cutaneous vascular disease with an unknown pathogenesis. Although considered as a benign condition, anomalies such as body asymmetry are frequently associated. Herein we present a series of patient with diagnosis of CMTC with a focus on clinical outcomes. In our series, limb length abnormalities were the most common associate anomaly, occurring in 24% of the subjects, similar to other series with rates of 33% and 27% but higher than the general population (6.7%). Importantly, dermatologist should be aware of the frequently associated anomalies in CMTC, such as leg length discrepancy, which may have serious consequences if not recognized and treated.

Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. On the other hand, cutaneous and subcutaneous atrophy, extensive and severe enough leading to hemiatrophy, of the entire limb is rare. A search of the English literature revealed only eight documented cases to which we are adding two more cases.