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, sporadic condition that presents at birth as a localised or generalised reticulated, blueviolet vascular. What is cutis marmorata telangiectatica congenita cmtc. It presents with a distinct reticulated pattern that is reminiscent. At birth, she had flat purple patches over the right leg and arm, with smaller faded markings over the left buttock and leg figure 1the affected right knee skin was indurated.
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, van lohuizen syndrome, glaucoma, leg length discrepancy, associated anomalies. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. Cutis marmorata telangiectatica congenital longdom publishing sl. Pdf cutis marmorata telangiectatica congenita and glaucoma. Residencia pediatrica cutis marmorata telangiectasica. Affiliation 1 department of paediatrics, the hospital. To further the current understanding of this disorder, we analyzed the clinical features of a large. Cutis marmorata telangiectatica congenita statpearls ncbi. Yan, in pediatric dermatology, 2008 cutis marmorata telangiectatica congenita congenital phlebectasia a cutis marmorata like eruption that is present at birth in association with persistent, reticulate, violaceous erythema and areas of atrophy indicates a distinct condition known as cmtc figure 9.
Progressive neurologic complications are generally not a feature of the disorder. There is no specific treatment for the skin lesions of cutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic, congenital cutaneous vascular disorder of unknown etiology. A female infant with birth weight 2830 g was born in good condition at 38 weeks gestation by forceps delivery. Cutis marmorata telangiectatica congenita genetic and. Strokes, cutis marmorata telangiectatica congenita and factor v leiden. Cutis marmorata telangiectatica congenita cmtc is a rare capillary malformation characterised by persistent reticulated marbled erythema. Cutis marmorata telangiectatica congenita cmtc is a rare congenital vascular anomaly, that presents with localised or generalised persistent telangiectasia in a reticulate erythema pattern. Dec 01, 2008 cutis marmorata telangiectatica congenita cmtc is an uncommon congenital vascular malformation characterized by the presence of a localized or generalized pattern, frequently asymmetrical, with reticulated, erythematous or violaceous macules, present at birth or shortly thereafter.
A diagnosis of cmtc is made clinically because the histology is nonspecific, demonstrating dilated capillaries. A pseudoathletic appearance is often described due to loss of subcutaneous. 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 condition that causes a marbled pattern on the skin. Cutis marmorata telangiectatica congenita cmtc is a rare complex vascular malformation associated with a reticulated vascular pattern associated with derma. Cutis marmorata telangiectatica congenita is a relatively uncommon condition, with about 300 cases described in the literature to date. About 300 cases have been described in the literature to date. The role of external factors, including viral infections, have been discussed, as several cases of cutis marmorata telangiectatica congenita cmtc occurred in the same geographic area.
Cutis marmorata telangiectatica congenita cmtc is a rare vascular skin abnormality. Genet couns death in macrocephaly cutis marmorata telangiectatica congenita 14. This purplish pattern is similar to the fishnetlooking blotches seen in young infants when they are cold. In some affected individuals, ulcerations or congenital. Cutis marmorata telangiectatica congenita hemihipertrpfia unique association with imperforate anus and myelodysplasia. Introductioncutis marmorata telangiectatica congenita cmtc, is an uncommon congenital vascular disorder, attributed to mosaicism of a postzygotic mutation, consisting in an anomalous, persistent, redbluish marbling of the skin, already present at birth or developing in the following years. Cutis marmorata telangiectatica congenita is a relatively uncommon disorder that can mimic cutis marmorata, a common benign physiologic response to cold in infants. The remainder of her examination, full blood count, c reactive protein and coagulation screen, was.
These cutaneous lesions may improve, disappear or remain stable. The curis records of the patients indicated a marked improvement of the mottled vascular pattern, with the greatest improvement in the first 2 years of life. Cutis marmorata telangiectatica congenita associated with. Photograph showing localised cutis marmorata telangiectatica congenita affecting the right leg, with indurated skin over the right knee.
A 1monthold boy showed cutis marmorata telangiectatica congenita cmtc involving a blocklike pattern on his left leg and thigh and on the left side of his trunk, along with bilateral greyishblue hyperpigmentation involving the buttocks and. Cutis marmorata telangiectatica marmorata telangiectatica without aplasia cutis congenita. The role of external factors, including viral infections and teratogens, has been discussed, as several cases of cutis marmorata telangiectatica congenita cmtc occurred in the same geographic area, however, this could not been proven. Cutis marmorata telangiectasia congenita with painful. Cutis marmorata telangiectatica congenita genetic and rare. The infant was diagnosed with a congenital vascular malformation known as cutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita cmtc is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. Oct 05, 2019 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 sporadic congenital vascular anomaly usually presents at birth as a localized or generalized reticulated, erythema and telangiectasia. Cutis marmorata telangiectatica congenita jama dermatology. Four patients had focal cutaneous atrophy associated with the reticulated vascular pattern, and. Histologic examination shows an increased number and size of capillaries and veins, perivascular lymphocytic infiltrates, occasional areas of microthrombosis. The prognosis is usually good, with minor associated anomalies. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated.
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. We present a case of cmtc, asymptomatic since birth, that began developing painful ulcerations during. It is characterized by patches of marbledlooking skin cutis marmarota, small widened blood vessels under the skin telangiectasia and varicose veins phlebectasia. Macrocephalycutis marmorata telangiectatica congenita macrocephaly capillary malformation. The lesions form a red or purplish network, sometimes with dilated veins and atrophic areas. Cutis marmorata telangiectatica congenita nord national.
Cutis marmorata telangiectatica congenita orphanet journal of. The incidence of associated anomalies was relatively low, and three patients had skin manifestations cutaneous atrophy and nevus telangiectaticus. Pdf cutis marmorata telangiectatica congenita researchgate. Cutis marmorata telangiectatica congenita cmtc is a rare, congenital, vascular disorder that may sometimes be associated with ulcerations of the involved skin. Patients with cutis marmorata telangiectatica congenita should be. Way bh, herrmann j, gilbert ef, johnson sa, opitz jm. The authors describe ten cases of cutis marmorata telangiectatica congenita cmtc. Cutis marmorata telangiectatica congenital bmj case reports. Multiple malformations may be associated with it, in particular in infants with macrocephaly. Cutis marmorata telangiectatica congenita request pdf.
Mar 06, 2021 outline the workup of cutis marmorata telangiectatica congenita and describes the role of health professionals working together to manage this condition. Adamsoliver syndrome congnita with cutis marmorata telangiectatica congenita and congenital cataract. Cutis marmorata telangiectatica congenita cmtc cmtc presents with telangiectasias and atrophy of skin at birth or soon after. Dec 04, 2019 cutis marmorata telangiectatica congenita cmtc is a rare capillary malformation characterised by persistent reticulated marbled erythema. Cutis marmorata telangiectatica congenita clinical features in 35 cases arjan c. Cutis marmorata telangiectatica congenita wikipedia. Cutis marmorata telangiectatica congenita cmtc is a rare cutaneous condition in newborns. Pdf cutis marmorata telangiectatica congenita cmtc is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or. 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. Strokes, cutis marmorata telangiectatica congenita, and. Unlike cutis marmorata, it does not disappear with warming.
Twentytwo cases of cutis marmorata telangiectatica congenita were evaluated during an 8year period. Macrocephaly cutis marmorata telangiectatica congenita syndrome macrocephaly cmtc is an uncommon skin condition that is accompanied with macrocephaly cutis marmorata, telangiectasia, phlebectasia, body asymmetry and, occasionally, skin ulcerations. Objectiveto evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenit. Cutis marmorata telangiectatica congenita cmtc is a skin vascular malformation of low flow, com promising venous and capillary vessels, of. Cutis marmorata telangiectatica congenita clinical features in 35 cases. In two patients, the right leg was shorter and thinner. Ocular manifestations of cutis marmorata telangiectatica. Cutis marmorata telangiectatica congenita way 1974. Apr 01, 1998 cutis marmorata telangiectatica congenita is an uncommon, congenital cutaneous condition typified by persistent cutis marmorata and other associated abnormalities. To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during.
About 300 cases have been reported in the literature. Pdf to evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica. Macrocephalycutis marmorata telangiectatica congenita. Four of the five main features congenital phlebectasia, cutis marmorata, superficial ulcerations, and steady improvement were present. As a result, the skin has a purple or blue marbled or fishnet appearance cutis marmorata. All but two patients were examined in the first year of life. Cutis marmorata telangiectatica congenita and hypospadias. Cutis marmorata telangiectatica congenita dermnet nz. Current concepts in diagnosis and management of congenital cutaneous hemangiomas. Am j terminal transverse limb defects and cutis med genet 1988. Cutis marmorata telangiectatica congenita is characterized by the presence of a bluishpurple reticulated cutaneous vascular network on the skin intermixed with. Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin.
Light and electronmicroscopic studies revealed atypical capillaries, venules, and veins in different cutaneous layers. Cutis marmorata telangiectatica congenita is an uncommon vascular malformation composed of capillary and venous sized vessels. The lesions had totally disappeared, or only faded residual lesions remained. Cutis marmorata telangiectatica congenita adc fetal. It should be mentioned that cmtc may be associated with a wide variety of malformations. Cutis marmorata telangiectatica congenita cmtc is an uncommon congenital vascular anomaly of unknown aetiology. Cutis marmorata telangiectatica congenita cmtc is a skin vascular malformation of. Pdf cutis marmarata telangiectatica is a benign vascular anomaly that manifests as dilatation of superficial capilllaries and veins usually. Here we report the case of a one year two months old girl that exhibited the typical. Management of c utis marmorata telangiectatica congenita. Cmtc includes a mottled pattern on the surface of the skin.
Cutis marmorata telangiectatica congenita syndromes. Cutis marmorata telangiectatica congenita is characterized by the presence of a bluishpurple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Affected children with limb length discrepancies should be monitored with standing leglength radiographs at the age of 10 girls or 12 boys, or if the limb length discrepancy is greater or equal to 2 cm. The rate of associated anomalies varies between 20% and 70%. Cutis marmorata telangiectatica congenita cmtc is a congenital vascular anomaly of unknown aetiology.
Sep 01, 2019 cutis marmorata telangiectatica congenita cmtc was reported first in 1922 by van lohuizen. This case report relates to cutis marmorata telangiectatica congenita diagnostic in a female newborn, performed shortly after her birth, through findings of violaceous cutaneous lesions in the lower limbs, lower quadrant of abdomen and left hand, which worsened after cold exposure. Pdf large aberrant mongolian spots coexisting with cutis. Cutis marmorata telangiectatica congenita cmtc is a rare congenital cutaneous vascular anomaly with a reticular marbled erythematous pattern, which can result in isolated benign skin lesions or. Cutis marmorata teleangiectatica congenita cmtc is een zeldzame, aangeboren. Cutis marmorata telangiectatica congenita cmtc is a rare, sporadic condition that presents at birth as a localized or generalized reticulated, blueviolet vascular network in the skin. Cutis marmorata telangiectatica congenita cmtc is an uncommon, sporadic, congenital cutaneous condition presenting with. Mar 25, 2019 cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cutis marmorata telangiectatica congenita cmtc is a birth defect involving the skin and blood vessels. Cmtc is a rare condition that mainly affects the blood vessels of the skin. Pdf macrocephalycutis marmorata telangiectatica congenita. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.
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