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Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by Cato van Lohuizen, [2] a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome.
This disorder was recognized as a distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. [12] [13] A new name, macrocephaly-capillary malformation, abbreviated M-CM, was recommended in 2007. [14] This new name was chosen to more accurately describe the skin markings associated with this disorder.
Cutis marmorata (from Latin marmor, "marble") is a benign skin condition which, if persistent, occurs in Cornelia de Lange syndrome, trisomy 13 and trisomy 18 syndromes. [1] When a newborn infant is exposed to low environmental temperatures, an evanescent , lacy, reticulated red and/or blue cutaneous vascular pattern appears over most of the ...
The skin is frequently observed to have a mottled appearance (cutis marmorata telangiectatica congenita). Other congenital anomalies, including cardiovascular malformations , cleft lip and/or palate , abnormal renal system , and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed.
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Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia, Van Lohuizen syndrome) Dermal dendrocyte hamartoma Dermatofibroma (benign fibrous histiocytoma, dermal dendrocytoma, fibrous dermatofibroma, fibrous histiocytoma, fibroma simplex, histiocytoma, nodular subepidermal fibrosis, sclerosing hemangioma)