This case highlights the possibility of occurrence of multiple vascular malformations in the same patient. Epilepsy in a child with cutis marmorata telangiectatica congenital a case report. There have been about 300 cases reported to date in the. Cutis marmorata telangiectatica congenita with skin. Progressive neurologic complications are generally not a feature of the disorder. Cutis marmorata telangiectatica congenita cmtc is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. The condition was first recognised and described in 1922 by cato van lohuizen, a dutch pediatrician whose name was later adopted in the other common name used to describe the condition van lohuizen syndrome. Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy. The condition known as macrocephalycutis marmorata telangiectatica congenita syndrome mcmtc is a rare congenital syndrome of unknown etiology characterized by macrocephaly and vascular lesions that have been described as either cutis marmorata or cutis marmorata telangiectatica congenita cmtc. To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during followup. The cmtcovm is an organization based in the netherlands that provides information and other services to those affected with, or working on, van lohuizen syndrome, which is also known as cutis marmorata telangiectatica congenita cmtcovm. Cutis marmorata telangiectatica congenita dermnet nz. Cmtc invariably presents at birth or within a few days of age. Cmtcovm written by lisa sencen on november 9, 2015.
Hemihipertrofia congenita pdf most popular pdf sites. This information sheet from great ormond street hospital gosh explains the causes, symptoms and treatment of cutis marmorata telangiectatica congenita cmtc and where to get help. Pdf cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or. They include a lacy, symmetrical flat pattern on the skin thats reddishpurple in color, alternating with pale areas. Cutis marmorata telangiectatica congenita is a rare congenital cutaneous vascular anomaly consisting of a sharply demarcated, reticulated vascular network of blueviolet venules associated with telangiectasias, with or without varicose veins. A case is reported of cutis marmorata telangiectatica congenita associated with diffuse cerebrovascular infarcts at 7 months of age. This condition and its association with congenital. It should be mentioned that cmtc may be associated with a wide variety of malformations. The condition was first recognised and described in 1922 by cato van lohuizen, a dutch pediatrician whose name was later adopted in the other common name used to describe the condition van. Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital disorder characterised by localised or generalised cutaneous vascular anomaly.
Cutis marmorata symptoms for infants, children, and adults are alike. The skin findings most often occur on the legs, but may also occur on the arms and trunk. Rewarming usually restores the skin to its normal appearance. Cutis marmorata telangiectatica congenita nord national. Congenital cutis marmorata telangiectatica and syndactyly in. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. Cutis marmorata telangiectatica congenita cmtc is a congenital vascular anomaly of unknown aetiology. Cutis marmorata telangiectatica congenita is a relatively uncommon condition, with about 300 cases described in the literature to date. Cutis marmorata is distinct from cutis marmorata telangiectatica congenita cmtc. Mim219250 capillaryvenous cutaneous malformation with marbled appearance. When a newborn infant is exposed to low environmental temperatures, an evanescent, lacy, reticulated red andor blue cutaneous vascular pattern appears over most of the body surface. Cutis marmorata telangiectatica congenita cmtc is a congenital cutaneous vascular malformation that is diagnosed on the typical clinical findings of persistent cutis marmorata, telangiectasia. Associated abnormalities such as body asymmetry, vascular.
Mar 25, 2019 cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cutis marmorata telangiectatica congenita jama dermatology. Cutis marmorata telangiectatica congenita restricted to both. It is characterized by patches of marbledlooking skin cutis marmarota, small widened blood vessels under the skin telangiectasia and varicose veins phlebectasia. Strokes, cutis marmorata telangiectatica congenita, and. Cutis marmorata telangiectatica congenita genetic and. Cutis marmorata telangiectatica congenita 1 is a rare benign sporadic congenital vascular anomaly characterised by persistent cutis marmorata, telangiectasia, and phlebectasia and often associated with skin atrophy and ulceration.
Esterly, md chicago, illinois twentytwo cases of cutis marmorata telangiectatica congenita were evaluated during an 8year period. Cutis marmorata telangiectatica congenita clinical. Who gets c utis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita genetic and rare. Cutis marmorata telangiectatica congenita cmtc is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Mar 08, 2011 atrophy and skin ulceration are common features of cutis marmorata telangiectatica congenita, but they should not be present with cutis marmorata. We report two cases in which cutis marmorata telangiectatica congenita is associated with a nevus flammeus of the face and congenital glaucoma.
Cutis marmorata telangiectatica congenita cmtc is a skin vascular malformation of low flow, compromising venous and capillary vessels, of unknown origin, with about 300 cases described in the literature. It should not be confused with cutis marmorata, a normal physiologic skin mottling in cool environments. Cutis marmorata is a condition where the skin has a pinkish blue mottled or marbled appearance when subjected to cold temperatures. In some affected individuals, ulcerations or congenital. Learn the symptoms, other problems it can cause, and how its treated.
Cutis marmorata telangiectatica congenita cmtc is a rare condition that mainly affects the blood vessels of the skin. Cutis marmorata telangiectatica congenita cmtc is a congenital cutaneous vascular malformation characterized by persistent cutis marmorata, telangiectasia, phlebectasia, occasional ulceration, and a tendency for improvement with age. Cutis marmorata telangiectatica congenital bmj case reports. Cmtc was first described in 1922 by van lohuizen as a pattern of reticulate erythema and telangiectasia infrequently associated with skin atrophy andor ulceration. Cutis marmorata telangiectatica congenita cmtc great. Cutis marmorata telangiectatica congenita cmtc is a birthmark that affects the blood vessels in the skin causing a netlike pattern on the skin giving a marbled appearance. May, 2019 cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. Cmtc is not caused by any known drug, medication or environmental factor that the baby may have been exposed to during the pregnancy. Cutis marmorata telangiectatica congenita is an uncommon, congenital cutaneous condition typified by persistent cutis marmorata and other associated abnormalities. Cutis marmorata telangiectatica congenita definition of. To our knowledge this is the first reported american case of cutis marmorata telangiectatica congenita cmtc combined with other congenital defects, in this instance, sturgeweber disease and patent ductus arteriosus. The misnomer macrocephalycutis marmorata telangiectatica. Cutis marmorata telangiectatica congenita cmtc is a rare condition that causes a marbled pattern on the skin.
The rate of associated anomalies varies between 20% and 70%. We present a unique case of 3 vascular malformationssturgeweber syndrome sws, facial infantile hemangioma ih, and cutis marmorata telangiectatica congenita cmtcwith dermatologic manifestations presenting in the same patient. As a result, the skin has a purple or blue marbled or fishnet appearance cutis marmorata. I i l i l i ii ii ii i i i i cutis marmorata telangiectatica congenita. Introduction the coexistence of cutis marmorata telangiectatica congenita cmtc with mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis ppv, namely ppv type v or phacomatosis cesiomarmorata.
About 300 cases have been reported in the literature. Cutis marmorata telangiectatica congenita and aberrant. Cutis marmorata telangiectatica congenita dermatology. Cutis marmorata telangiectatica congenita cmtc is a cutaneous vascular malformation defined by persistent reticulate erythema cutis marmorata. Cutis marmorata telangiectatica congenita wikipedia. Cutis marmorata telangiectatica congenita in two sisters. It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. They asserted that this association is best explained as a phenomenon of nonallelic twin spotting and suggested that this condition may be a novel variant form of phacomatosis pigmentovascularis. Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. Cutis marmorata telangiectatica congenita is most commonly localized in distribution, evident over the lower limbs. Cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Localized cutis marmorata telangiectatica congenita suarez. Apr 10, 2020 cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or. Cutis marmorata telangiectatica congenita cmtc is a rare, usuaiiy sporadic, congenital, reticulated vascular anomaly, it may be widespread or segmental, with atrophy or ulceration, and may be associated with other congenital abnormalities.
Cutis marmorata telangiectatica congenita is an uncommon congenital capillary vascular malformation. Cutis marmorata telangiectatica congenita cmtc is a rare congenital present at birthdisorder characterized by discolored patches of skin caused by widened dilated surface blood vessels. Picture of cutis marmorata telangiectatica congenita. Our team conducted research on a newborn with cmtc and aberrant. Cutis marmorata telangiectatica congenita with hemangiomatous. Cutis mormorata telangiectatica congenital successfully. All but two patients were examined in the first year of life. Cutis marmorata telangiectatica congenita adc fetal. We report a case of cmtc with atrophy, restricted in size to a small area on the back.
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