It should be mentioned that cmtc may be associated with a wide variety of malformations. Who gets c utis marmorata telangiectatica congenita. Cutaneous marbling is apparent at room temperature and becomes more pronounced with lower temperatures and crying. Cutis marmorata telangiectatica congenita is an uncommon congenital capillary vascular malformation. Cutis marmorata telangiectatica congenita newborns. Cutis marmorata telangiectatica congenita with skin. Its major features are congenital persistent cutis marmorata, phlebectasia, telangiectasia, and occasional ulceration and skin atrophy. Cutis marmorata telangiectatica congenita genetic and.
It is defined as a localized or generalized reticulated, vascular, blueviolet network that is usually present at birth. Cutis marmorata telangiectatica congenita is a very rare congenital disorder that primarily affects the blood vessels and the overlying skin. Cutis marmorata is distinct from cutis marmorata telangiectatica congenita cmtc. Cutis marmorata telangiectatica congenita cmtc is a birth defect. 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 restricted to both. This condition and its association with congenital. We report a case of cmtc with atrophy, restricted in size to a small area on the back. Cutis marmorata telangiectatica congenita is most commonly localized in distribution, evident over the lower limbs. Although ocular manifestations of cmtc are rare, instances of congenital glaucoma, suprachoroidal hemorrhage, and bilateral total retinal detachments resulting in secondary neovascular glaucoma have been reported. As a result, the skin has a purple or blue marbled or fishnet appearance cutis marmorata.
Cutis marmorata telangiectatica congenita associated with congenital glaucoma. 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. Cutis marmorata telangiectatica congenita cmtc is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be. 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 a rare vascular condition known to affect multiple organ systems including the eyes. The skin appears as a reticulated network with white insulae in between. Cutis marmorata telangiectatica congenita and aberrant. Cutis marmorata telangiectatica congenit a emconsulte. Cutis marmorata telangiectatica congenita definition of. It is mostly cosmetic, and while it is present at birth, it fades considerably over a childs first year. Cutis marmorata telangiectatica congenita cmtc is a rare cutaneous vascular anomaly. 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.
Cmtc is described as a persistent reticulated marbled erythema, which blanches with. 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. Picture of cutis marmorata telangiectatica congenita. There is a slight increased risk for congenital heart defects andor cardiac rhythm abnormalities. Cutis marmorata cmtc is a very rare vascular disorder. Cutis marmorata telangiectatica congenita cmtc is a rare capillary malformation characterised by persistent reticulated marbled erythema. These dilated vessels cause the skin to have a marbled or fishnet appearance cutis mamorata. Cutis marmorata telangiectatica congenita dermnet nz. To further the current understanding of this disorder, we. In cutis marmorata telangiectatica congenita congenital generalized lymphangiectasia, dilated superficial venous and capillary channels are usually noted at birth.
To further the current understanding of this disorder, we analyzed the clinical features of a large. The skin findings most often occur on the legs, but may also occur on the arms and trunk. Klippeltrenaunayweber syndrome ktw consists of port wine stains, varicose veins and limb hypertrophy. Some congenital anomalies associated with cutis marmorata telangiectatica congenita occur with rates ranging between 19% and 70% in. 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. The national organization for rare disorders nord has a report for patients and families about this condition. Cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita or cmtc is a rare congenital vascular disorder that usually manifests in affecting the. Type v phacomatosis pigmentovascularis or phacomatosis cesiomarmorata guilian du, ba,a xiaomin zhang, ms,b and tangde zhang, msb shenzhen and guangdong, china.
Pdf cutis marmorata telangiectatica congenita omim 219250. Severe cmtc can create ulcerations in the affected skin area. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. This marbled pattern is always visible, but may be enhanced by cold temperatures or distress. The full text of this article is available in pdf format. 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 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. Pdf cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or. Cutis marmorata telangiectatica congenita restricted to. Jan 15, 2019 who gets cutis marmorata telangiectatica congenita. Cutis marmorata also occurs in decompression sickness dcs. An anomalous superficial vein was joining the long. Megalencephalycapillary malformation syndrome genetic.
Cutis marmorata telangiectatica congenita cmtc is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. May 10, 2017 cutis marmorata telangiectatica congenita cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with dermal atrophy. This ranges from the occurrence of aplasia cutis congenita acc, transverse terminal limb defects ttld and cutis marmorata telangiectatica. Cutis marmorata telangiectatica congenita cmtc great. Cutis marmorata telangiectatica congenita wikipedia. Your childs doctor will probably recommend observation after making sure that no other abnormalities are present.
Cutis marmorata telangiectatica congenita cmtc is a rare condition that mainly affects the blood vessels of the skin. Esterly, md chicago, illinois twentytwo cases of cutis marmorata telangiectatica congenita were evaluated during an 8year period. Cmtcovm cutis marmorata telangiectatica nord national. Congenital persistant livedo reticularis, telangiectases, and superficial ulceration are the hallmarks of this syndrome. A few cases have been reported in adults, probably due to a late diagnosis of the condition. Cutis marmorata telangiectatica congenita with multiple. There have been about 300 cases reported to date in the. Mar 25, 2019 cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cutis marmorata telangiectatica congenita is a relatively uncommon condition, with about 300 cases described in the literature to date. Hemihipertrofia congenita pdf most popular pdf sites. 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. Treatment of a large skull defect and brain herniation in a. Cutis marmorata telangiectatica congenita cmtc is a congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia and phlebectesia.
Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital disorder characterised by localised or generalised cutaneous vascular anomaly. Cutis marmorata telangiectatica congenita cmtc is a skin vascular malformation of low flow, com promising venous and capillary vessels, of. On the right side of a cheek, a capillary malformations are present. Abstractcutis marmorata telangiectatica congenita is a rare disorder characterized by cutis marmorata, telangiectasia with or without recurrent ulcerations. 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 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 congeita cmtc treatments. Sometimes, it may be seen later, in the first 2 years of life. Cutis marmorata telangiectatica congenita and hypospadias.
The misnomer macrocephalycutis marmorata telangiectatica. Cutis marmorata congenita telangiectatica, klippel. Cutis marmorata telangiectatica congenita in two sisters. Cutis marmorata telangiectatica congenita cmtc often fades on its own over the first year as your childs skin matures and thickens. What is cutis marmorata telangiectatica congenita cmtc. Nord is a patient advocacy organization for individuals with rare. Cutis marmorata telangiectatica congenita and glaucoma. Localized cutis marmorata telangiectatica congenita. Description 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. The prognosis is usually good, with minor associated anomalies.
About europe pmc funders joining europe pmc governance roadmap. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. Journal of pediatric ophthalmology and strabismus abstracttwo cases of cutis marmorata telangiectatica congenita are described in association with nevus flammeus and congenital glaucoma. Cutis marmorata congenita telangiectatica, klippeltrenaunay.
Scalp and limb defects with cutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita cmtc is a rare, deep purple, marble or netlike birthmark. Cutis marmorata telangiectatica congenita cmtc is a rare vascular skin abnormality. Cutis marmorata telangiectatica congeita cmtc boston.
Cutis marmorata telangiectatica congenita nord national. Cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cutis marmorata telangiectatica congenita clinical. All but two patients were examined in the first year of life. Cutis marmorata telangiectatica congenita presenting as a fetal. Age and sex distribution cutis marmorata telangiectatica congenita is a birth defect. Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital vascular anomaly usually presents at birth as a localized or generalized. Case report cutis marmorata telangiectatica congenita and aberrant mongolian spots. 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.
This website is maintained by the national library of medicine. There is an association of cmtc with other congenital abnormalities in at least 50% of the. Cutis marmorata telangiectatica congenita is clinically similar, but the lesions are more intense, may be segmental, are persistent, and may be associated with loss of dermal tissue, epidermal atrophy and ulceration. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenitalike lesions 431 references 1. Aplasia cutis congenita acc is the congenital absence of the skin, and may. Cutis marmorata telangiectatica congenita genetic and rare. 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. Cutaneous neonatal lupus with cutis marmorata telangiectatica. Cutis marmorata telangiectatica congenita cmtc is an uncommon sporadic, congenital vascular anomaly, first recognized by van lohuizen 1 in 1922. Macrocephaly cutis marmorata telangiectatica congenita syndrome. 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. It should not be confused with cutis marmorata, a normal physiologic skin mottling in cool environments. 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 is a rare vascular anomaly.
Cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or. Mutations in notch1 cause adamsoliver syndrome sciencedirect. Cutis marmorata telangiectatica congenita cmtc is a rare condition that causes a marbled pattern on the skin. In some affected individuals, ulcerations or congenital. 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. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous condition presenting with. Our team conducted research on a newborn with cmtc and aberrant. Cmtc is not caused by any known drug, medication or environmental factor that the baby may have been exposed to during the pregnancy.
Genetics home reference ghr contains information on megalencephalycapillary malformation syndrome. Cutis marmorata telangiectatica congenita abstract europe pmc. Congenital cutis marmorata telangiectatica and syndactyly in. It is characterized by patches of marbledlooking skin cutis marmarota, small widened blood vessels under the skin telangiectasia and varicose veins phlebectasia. Pdf laser therapy treatment of phacomatosis pigmentovascularis. Mar 08, 2011 atrophy and skin ulceration are common features of cutis marmorata telangiectatica congenita, but they should not be present with cutis marmorata. May, 2019 cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. Cutis marmorata telangiectatica congenita cmtc was first described by the dutch pediatrician van lohuizen 1 in 1922. Cmtc is a disorder that is present at birth and is characterized by discolored patches of skin caused by dilated blood vessels livedoreticulartelangiectases. Cutis mormorata telangiectatica congenital successfully. Cutis marmorata occurs in about 50% of children and is typically seen throughout infancy. Way bh, herrmann j, gilbert ef, johnson sa, opitz jm.
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 an overview. But interestingly, the cutis marmorata telangiectatica congenita on the patients. Cutis marmorata telangiectatica congenital longdom publishing sl. Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. Learn the symptoms, other problems it can cause, and how its treated. Congenital glaucoma associated with cutis marmorata. 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. Cutis marmorata telangiectatica congenita cmtc is a rare congenital vascular anomaly, classified as a simple vascular malformation and subclassified as a capillary malformation cm by the international society for the study of vascular anomalies issva.
Cutis marmorata telangiectatica congenita cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with dermal atrophy. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. Cutis marmorata telangiectatica congenital semantic scholar. Mim219250 capillaryvenous cutaneous malformation with marbled appearance. 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 telangiectatica congenita cmtc is a rare, sporadic, congenital cutaneous vascular disorder of unknown etiology. We report two cases in which cutis marmorata telangiectatica congenita is associated with a nevus flammeus of the face and congenital glaucoma. Pdf introduction phacomatosis pigmentovascularis is a rare congenital condition. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Cutis marmorata telangiectatica congenita jama dermatology. 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. Macrocephaly cutis marmorata telangiectatica congenita syndrome, megalencephaly cutis marmorata telangiectatica congenita syndrome.