Cutis marmorata telangiectatica congenita is most commonly localized in. Cutis marmorata telangiectatica congenita cmtc cutis marmorata telangiectatica congenita cmtc is a rare congenital vascular anomaly that virtually always occurs sporadically and in a patchy, quadrant, unilateral or otherwise segmental manifestation. May 10, 2017 cutis marmorata telangiectatica congenita cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with dermal atrophy. Cutis marmorata telangiectatica congenita adc fetal. This would suggest mosaicism of a postzygotic mutation. Cutis marmorata telangiectatica congenita with skin. Cutis marmorata telangiectatica congenita genetic and rare.
Who gets c utis marmorata telangiectatica congenita. Pdf cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or. Cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Mar 08, 2011 atrophy and skin ulceration are common features of cutis marmorata telangiectatica congenita, but they should not be present with cutis marmorata. Rewarming usually restores the skin to its normal appearance. Cutis marmorata telangiectatica congenita cmtc often fades on its own over the first year as your childs skin matures and thickens. Cutis marmorata telangiectatica congenita newborns. The skin findings most often occur on the legs, but may also occur on the arms and trunk. Macrocephaly cutis marmorata telangiectatica congenita syndrome, megalencephaly cutis marmorata telangiectatica congenita syndrome.
Cutis marmorata telangiectatica congenita dermnet nz. Atrophy and skin ulceration are common features of cutis marmorata telangiectatica congenita, but they should not be present with cutis marmorata. Its primary features are a large brain megalencephaly and abnormalities of small blood vessels in the skin called capillaries capillary malformations. It should not be confused with cutis marmorata, a normal physiologic skin mottling in cool environments. 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 cmtc is a rare, deep purple, marble or netlike birthmark. 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. Cutis marmorata telangiectatica congeita cmtc boston. Cutis marmorata telangiectatica congenita an overview. The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. To further the current understanding of this disorder, we analyzed the clinical features of a large series of patients with cmtc. Cutis marmorata telangiectatica congenita cmtc is a rare condition. Four of the five main features congenital phlebectasia, cutis marmorata, superficial ulcerations, and steady improvement were present. 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.
For language access assistance, contact the ncats public information officer. Nord is a patient advocacy organization for individuals with rare. Cutis marmorata telangiectatica congenita cmtc was first described by the dutch pediatrician van lohuizen 1 in 1922. Cutis marmorata telangiectatica congenita jama dermatology. The skin appears as a reticulated network with white insulae in between. Jan 15, 2019 who gets cutis marmorata telangiectatica congenita. It causes a blue or purple pattern on the skin that looks marbled or like fishnet. Most often, it doesnt need treatment and is just an issue of looks. It is defined as a localized or generalized reticulated, vascular, blueviolet network that is usually present at birth.
The classification tables do not list exhaustively all known vascular anomalies. Cutis marmorata telangiectatica congenita genetic and. Cutis marmorata telangiectatica congenita cmtc is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous condition presenting with persistent cutis marmorata, telangiectasia, phlebectasia and possible ulceration of the involved skin, skin atrophy, and undergrowth of the involved extremity. The prognosis is usually good, with minor associated anomalies. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic condition that presents at birth as a localised or generalised reticulated, blueviolet vascular network in the skin. In most cases, cmtc does not cause any problems and the skin marbled appearance fades in early childhood. Pdf a threemonthold girl presented with a reticular erythematous patch over her right thigh, which had been present since birth. 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. Cutis marmorata telangiectatica congenita cmtc is a rare congenital vascular anomaly, that presents with localised or generalised persistent telangiec tasia in a reticulate erythema pattern. The primary features are an abnormality in skin development called aplasia cutis congenita and malformations of the limbs. It is often reported in association with a variety of other.
Learn the symptoms, other problems it can cause, and how its treated. On the skin, an abnormal dilation of blood vessels in the dermis is observed, leading to a bluetopurple appearance, accompanied by phlebectasia, telangiectasia, and sometimes atrophy and ulceration of the skin. Cutis marmorata congenita telangiectatica, klippel. Congenital cutis marmorata telangiectatica and syndactyly in. Megalencephalycapillary malformation syndrome genetics. Cutis marmorata telangiectatica congenita and glaucoma. Its major features are congenital persistent cutis marmorata, phlebectasia, telangiectasia, and occasional ulceration and skin atrophy. Mar 25, 2019 cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Cutis marmorata telangiectatica congenita nord national. 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. Cutis marmorata telangiectatica congenita definition of. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. It is characterized by patches of marbledlooking skin.
Cutis marmorata telangiectatica congenita or cmtc is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. Cutis marmorata telangiectatica congenita cmtc is a rare congenital skin disorder characterized by discoloured patches of skin livedo reticularis caused by dilated surface blood vessels telangiectases which give the skin a blue or purple marbling or fishnet appearance. As a result, the skin has a purple or blue marbled or fishnet appearance cutis marmorata. It is characterized by patches of marbledlooking skin cutis marmarota, small widened blood vessels under the skin telangiectasia and varicose veins phlebectasia. Updated october 18, 2019 1 diagnosis list early support for infants and toddlers esit click on the letters below to jump to that section, or hit the ctrl key and letter f on your keyboard to search the document by keywords a. Cutis marmorata telangiectatica congenita restricted to both. Cutis marmorata telangiectatica congenita is a very rare congenital disorder that primarily affects the blood vessels and the overlying skin. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic condition that presents at birth as a localised or.
In cutis marmorata telangiectatica congenita congenital generalized lymphangiectasia, dilated superficial venous and capillary channels are usually noted at birth. Cutis marmorata telangiectatica congenita is most commonly localized. 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. Cutis marmorata is distinct from cutis marmorata telangiectatica congenita cmtc. Cutis marmorata telangiectatica congenita clinical. To further the current understanding of this disorder, we analyzed the clinical features of a large. Cutis marmorata telangiectatica congenita cmtc is an uncommon sporadic, congenital vascular anomaly, first recognized by van lohuizen 1 in 1922. This marbled pattern is always visible, but may be enhanced by cold temperatures or distress. It is mostly cosmetic, and while it is present at birth, it fades considerably over a childs first year.
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. Cutis marmorata telangiectatica congenita syndromes. Cutis marmorata telangiectatica congenita restricted to. The classic appearance of reddishblue reticulation of the skin changes with crying becomes increasingly red or other stimulation becomes. Pdf cutis marmorata telangiectatica congenita researchgate. A caucasian girl with an unusual dermatosis, similar to cutis marmorata telangiectatica congenita of van lohuizen is presented. Macrocephalycutis marmorata telangiectatica congenita syndrome, megalencephalycutis marmorata telangiectatica congenita syndrome.
Cutis marmorata congenita telangiectatica, klippeltrenaunay. 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. Cutis marmorata telangiectatica congenita is an uncommon congenital capillary vascular malformation. 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 marmorata telangiectatica congenita wikipedia. Cutis marmorata telangiectasica congenita request pdf. If you have problems viewing pdf files, download the latest version of adobe reader. Cutis marmorata telangiectatica congenita is most commonly localized in distribution, evident over the lower limbs. Who gets cutis marmorata telangiectatica congenita. 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. A congenital cutaneous condition with persistent cutis marmorata, telangiectasia, and phlebectasia. The misnomer macrocephalycutis marmorata telangiectatica. Klippeltrenaunayweber syndrome ktw consists of port wine stains, varicose veins and limb hypertrophy. Thats usually the case with cutis marmorata telangiectatica congenita, or cmtc.
Cutis marmorata telangiectatica congeita cmtc treatments. Cutis marmorata telangiectatica congenita differential. Cutis marmorata telangiectatica congenita and aberrant. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic condition that presents at birth as a localised or generalised reticulated, blueviolet vascular. We report a case of cmtc with atrophy, restricted in size to a small area on the back. Neonate with marbled skin appearance cutis marmorata.
Most people with adamsoliver syndrome have aplasia cutis congenita, a. Cutis marmorata is a condition where the skin has a pinkish blue mottled or marbled appearance when subjected to cold temperatures. Megalencephalycapillary malformation syndrome genetic. 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. A few cases have been reported in adults, probably due to a late diagnosis of the condition.
Cutis marmorata telangiectatica congenita springerlink. Mim219250 capillaryvenous cutaneous malformation with marbled appearance. Cmtcovm written by lisa sencen on november 9, 2015. There have been about 300 cases reported to date in the. Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital vascular anomaly usually presents at birth as a localized or generalized reticulated, erythema and telangiectasia. Our team conducted research on a newborn with cmtc. Cutis marmorata telangiectatica congenita and hypospadias. 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. The condition was first recognised and described in 1922 by cato van lohuizen, 1 a dutch pediatrician whose name was later adopted in the other common name used to describe the condition. Sometimes, it may be seen later, in the first 2 years of life. Cutis marmorata cmtc is a very rare vascular disorder. 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 cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with dermal atrophy.
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. Cmtc is not caused by any known drug, medication or environmental factor that the baby may have been exposed to during the pregnancy. Your childs doctor will probably recommend observation after making sure that no other abnormalities are present. A variety of other features can occur in people with adamsoliver syndrome. Cutis marmorata telangiectatica congenita request pdf. Rare congenital vascular disorder affects the blood vessels of the skin usually observed at birth or shortly thereafter marbled bluish to deeppurple appearance. Cutis marmorata telangiectatica congenita treatment.
Localized cutis marmorata telangiectatica congenita. Our experience in treating numerous patients with cmtc gives us the depth of knowledge about what symptoms to look for and how to plan treatment accordingly. On the right side of a cheek, a capillary malformations are present. May, 2019 cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. Megalencephalycapillary malformation syndrome mcap is a disorder characterized by overgrowth of several tissues in the body.
Cutis marmorata telangiectatica congenita cmtc is a rare capillary malformation characterised by persistent reticulated marbled erythema. We saw four patients who were born in sydney, australia, between april 1978 and. Our team conducted research on a newborn with cmtc and aberrant. 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. Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. Genetics home reference ghr contains information on megalencephalycapillary malformation syndrome. Picture of cutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or. Cmtc alliance genetic and rare diseases information center. Cutis marmorata telangiectatica congenita cmtc is a congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia and phlebectesia. While physiological cutis marmorata is a frequently encountered condition, we report a rare entity that appears similar, but should not be confused with it. Cutis marmorata telangiectatica congenita cmtc great.