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