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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 ...
Cutis laxa (chalazoderma, dermatochalasia, dermatolysis, dermatomegaly, generalized elastolysis, generalized elastorrhexis, pachydermatocele) Cutis rhomboidalis nuchae; Ehlers–Danlos syndrome (cutis hyperelastica, elastic skin, India rubber skin) Elastosis perforans serpiginosa; Homocystinuria; Jadassohn–Pellizzari anetoderma
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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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