Pubmed is a searchable database of medical literature and lists journal articles that discuss megalencephalycapillary malformation syndrome. In most cases, cmtc does not cause any problems and the skin marbled appearance fades in early childhood. Our team conducted research on a newborn with cmtc and aberrant. 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. Mim219250 capillaryvenous cutaneous malformation with marbled appearance. Cutis marmorata telangiectatica congenita restricted to both. Cutis marmorata telangiectasica congenita request pdf. Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy.
Sometimes, it may be seen later, in the first 2 years of life. Cutis marmorata telangiectatica congenita genetic and rare. Cutis marmorata telangiectatica congenita definition of. Cutis marmorata telangiectatica congenita with skin. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Cutis marmorata telangiectatica congeita cmtc boston. Cutis marmorata telangiectatica congenita is an uncommon congenital capillary vascular malformation. Cutis marmorata telangiectatica congenita cmtc is a rare condition. Cutis marmorata telangiectatica congenita cmtc is a rare, deep purple, marble or netlike birthmark.
Macrocephaly is associated with many genetic disorders and is a frequent cause of referral to the clinical geneticist. 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 vascular skin abnormality. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. 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 congenital bmj case reports. The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations.
To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during followup. Cutis marmorata telangiectatica congenital longdom publishing sl. Cutis marmorata telangiectatica congenita an overview. 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 dermatology. Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital skin vascular abnormality. Cutis marmorata telangiectatica congenita cmtc is a condition that is present at birth and causes discoloration of the skin due to dilated blood vessels visible near the surface. Cmtc is not caused by any known drug, medication or environmental factor that the baby may have been exposed to during the pregnancy. Macrocephaly with cutis marmorata telangiectatica congenita.
It is defined as a localized or generalized reticulated, vascular, blueviolet network that is usually present at birth. Cutis marmorata telangiectatica congenita adc fetal. Cmtc is a rare benign congenital vascular malformation involving primarily the subcutaneous vascular system and may be associated with skin atrophy and ulceration from birth. Cmtc was first described in 1922 by van lohuizen as a pattern of reticulate erythema and telangiectasia infrequently associated with skin atrophy andor ulceration. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. The disorder shows slow clinical improvement over time. Cutis marmorata telangiectatica congenita repub, erasmus. Cutis marmorata telangiectatica congenita cmtc is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Esterly, md chicago, illinois twentytwo cases of cutis marmorata telangiectatica congenita were evaluated during an 8year period. Cutis marmorata telangiectatica congenita and glaucoma.
Objectiveto evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenit. Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. Photograph showing generalised cutis marmorata, dilated superficial veins, and telangiectasia. Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital skin. This marbled pattern is always visible, but may be enhanced by cold temperatures or distress.
Cutis marmorata telangiectatica congenita cmtc is a skin vascular malformation of. Cutis marmorata telangiectatica congenita and aberrant. Pdf cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or. 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. 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. Localized cutis marmorata telangiectatica congenita. As a result, the skin has a purple or blue marbled or fishnet appearance cutis marmorata. Who gets c utis marmorata telangiectatica congenita. Cutis marmorata definition of cutis marmorata by medical. Click on the link to view a sample search on this topic. Atrophic cutis marmorata telangiectatica congenita. Picture of skin diseases and problems cutis marmorata.
Cutis marmorata telangiectatica congenita cmtc is a sporadic congenital vascular anomaly usually presents at birth as a localized or generalized reticulated, erythema and telangiectasia. Age and sex distribution cutis marmorata telangiectatica congenita is a birth defect. 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. All but two patients were examined in the first year of life. Cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita or cmtc is a rare congenital vascular disorder that usually manifests in affecting the. 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 in a preterm newborn.
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 mormorata telangiectatica congenital successfully. Cutis marmorata telangiectatica congenita cmtc is a rare condition that mainly affects the blood vessels of the skin. Congenital cutis marmorata telangiectatica and syndactyly in. Cutis marmorata telangiectatica congenita cmtc is a rare cutaneous vascular disorder that was first described in 1922 by van lohuizen 1.
The misnomer macrocephalycutis marmorata telangiectatica. 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. Macrocephalycutis marmorata telangiectatica congenita syndrome, megalencephalycutis marmorata telangiectatica congenita syndrome. Mar 08, 2011 atrophy and skin ulceration are common features of cutis marmorata telangiectatica congenita, but they should not be present with cutis marmorata. Cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. 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. Pdf cutis marmarata telangiectatica is a benign vascular anomaly that manifests as dilatation of superficial. A few cases have been reported in adults, probably due to a late diagnosis of the condition. 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 congenital present at birthdisorder characterized by discolored patches of skin caused by widened dilated surface blood vessels. Ophthalmic surgery, lasers and imaging retina cutis marmorata telangiectatica congenita is a wellcharacterized cutaneous vascular disorder with variable and rare ocular involvement. Cutis marmorata telangiectatica congenita is a rare vascular condition known to affect multiple organ systems including the eyes. What is cutis marmorata telangiectatica congenita cmtc.
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. It should not be confused with cutis marmorata, a normal physiologic skin mottling in cool environments. Get a printable copy pdf file of the complete article 1. It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. Pdf cutis marmorata telangiectatica congenita cmtc is a rare, commonly benign, congenital. Pdf cutis marmorata telangiectatica congenita in a preterm female. Megalencephalycapillary malformation syndrome genetic and. Cutis marmorata telangiectatica congenita cmtc is a rare condition that causes a marbled pattern on the skin. Cutis marmorata telangiectatica congenita clinical. Who gets cutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with dermal atrophy. Our team conducted research on a newborn with cmtc.
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. Picture of cutis marmorata telangiectatica congenita. 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. 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 dermnet nz.
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 sporadic congenital disorder characterised by localised or generalised cutaneous vascular anomaly. Cutis marmorata telangiectatica congenita cmtc is a cutaneous vascular malformation defined by persistent reticulate erythema cutis marmorata. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic. Learn the symptoms, other problems it can cause, and how its treated. Genetic disorders associated with macrocephaly williams. 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. Macrocephalycutis marmorata telangiectatica congenita without cutis marmorata. Its major features are congenital persistent cutis marmorata, phlebectasia, telangiectasia, and occasional ulceration and skin atrophy. It should be mentioned that cmtc may be associated with a. It is mostly cosmetic, and while it is present at birth, it fades considerably over a childs first year. The skin findings most often occur on the legs, but may also occur on the arms and trunk. Cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or localised. Cutis marmorata telangiectatica congenita is characterized by reticular erythema that is either generalized over the entire body or localized to a specific area or.
I i l i l i ii ii ii i i i i cutis marmorata telangiectatica congenita. 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. Jun 26, 2019 antiphospholipid antibody and antinuclear antibody tests were negative. Cutis marmorata telangiectatica congenita cmtc was first described by the dutch pediatrician van lohuizen 1 in 1922. Cutis marmorata telangiectatica congenita is most commonly localized. Ubre eine seltene angeborene hautanomalie cutis marmorata telangiectatica congenita. Cmtc invariably presents at birth or within a few days of age. Cutis marmorata telangiectatica congenita and hypospadias. Pdf cutis marmorata telangiectatica congenita researchgate. Cutis marmorata telangiectatica congenita jama dermatology.
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. Appending a case in literaure swati mulye 1, aditii majethia 1, ravindra kumar 2 1 department of pediatrics, sri aurobindo medical college and pg institute, indore, madhya pradesh, india 2 central research laboratory, sri aurobindo medical college and pg institute, indore, madhya pradesh, india. Macrocephaly cutis marmorata telangiectatica congenita syndrome, megalencephaly cutis marmorata telangiectatica congenita syndrome. On the right side of a cheek, a capillary malformations are present. Cutis marmorata telangiectatica congenita nord national. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent. 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. Journal of pediatric ophthalmology and strabismus abstracttwo cases of cutis marmorata telangiectatica congenita are described in association with nevus flammeus and congenital glaucoma.
It should be mentioned that cmtc may be associated with a wide variety of. Cutis marmorata telangiectatica congenita treatment. 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. Cutis marmorata telangiectatica congenita genetic and. Jan 15, 2019 who gets cutis marmorata telangiectatica congenita.
Mar 25, 2019 cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular. There have been about 300 cases reported to date in the. 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. A diagnosis of cutis marmorata telangiectatica congenita cmtc was made. Cutis marmorata telangiectatica congenita cmtc great. Cutis marmorata telangiectatica congenita wikipedia. To access free multiple choice questions on this topic, click here. Cutis marmorata telangiectatica congenita is a rare benign sporadic congenital. 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 statpearls ncbi. Congenital glaucoma associated with cutis marmorata.
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. May, 2019 cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia. Previously, cmtc has also been described as congenital generalized. The discoloration may appear in a fishnet or marbled pattern. 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. Cutis marmorata teleangiectasia congenita cmtc dapat dipertimbangkan sebagai diagnosis banding pada kutis. Pdf congenital cutis marmorata telangiectatica and syndactyly in. We report a case of cmtc with atrophy, restricted in size to a small area on the back.
546 1065 369 1009 1251 90 67 818 1137 848 802 489 212 479 719 155 5 119 64 964 1160 381 895 49 1064 220 168 130 255 785 770 523 1335 959 1282 1231 603 689 954