262 results match your criteria Cutis Marmorata Telangiectatica Congenita

The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the -related megalencephaly-capillary malformation (MCAP) syndrome: a case report.

Cold Spring Harb Mol Case Stud 2022 04 28;8(3). Epub 2022 Apr 28.

Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101, USA.

The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with MCAP, and a subset of individuals have cortical malformations requiring resective epilepsy surgery. Like other mosaic disorders, establishing a molecular diagnosis is largely achieved by screening lesional tissues (such as brain or skin), with a low diagnostic yield from peripheral tissues (such as blood). Read More

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Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.

Eur J Med Genet 2022 May 26;65(5):104472. Epub 2022 Mar 26.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany. Electronic address:

Cutis marmorata telangiectatica congenita (CMTC) is characterized by coarse-meshed capillary malformations arranged in asymmetrically distributed patches. The disorder may be associated with hyper- or hypoplastic limbs, syndactyly, cleft palate, and glaucoma. Because the disease usually occurs sporadically, the concept of a lethal mutation surviving by mosaicism was proposed about 30 years ago. Read More

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Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Am J Med Genet A 2022 Jun 2;188(6):1792-1800. Epub 2022 Mar 2.

Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.

Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we describe five patients with PROS. We identified by high-throughput sequencing four different somatic PIK3CA pathogenic variants in five individuals. Read More

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Cutis marmorata telangiectatica congenita with isolated lower limb defect and angiokeratoma.

Birth Defects Res 2022 03 12;114(5-6):208-210. Epub 2022 Feb 12.

Institute of Postgraduate Medical Education and Research, Kolkata, West Bengal, India.

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Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita.

Acta Dermatovenerol Croat 2020 Dec;28(4):247-248

Department of Dermatology, University General Hospital of Patras, Rion, Greece, Greece;

A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation. The family history as well as the antenatal course and delivery were unremarkable. On examination, we evidenced a fixed, marbled, bluish to deep purple lesion with a fishnet appearance extending over the right side of her body, face, and scalp. Read More

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December 2020

Cutis marmorata telangiectatica congenita successfully treated with intense pulsed light and pulse dyed laser therapy: a case report.

J Cosmet Laser Ther 2020 Jul 14;22(4-5):177-179. Epub 2021 Feb 14.

Department of Dermatology, Cleveland Clinic, Cleveland, OH, USA.

Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular disorder characterized by blue-purple reticulated patches and plaques that can be localized or generalized. Associated skin atrophy and soft tissue hypoplasia is common while ulceration is relatively uncommon. As CMTC is exceedingly rare and spontaneous remission in childhood can occur in mild cases, evidence for treatment of severe, refractory disease is limited. Read More

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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.

Clin Genet 2021 05 20;99(5):650-661. Epub 2021 Jan 20.

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.

Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, neurodevelopmental delay, and brain anomalies. The objectives of this study were to describe the clinical and radiological features of MCAP, to suggest relevant clinical endpoints applicable in future trials of targeted drug therapy. Read More

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Cutis Marmorata Telangiectatica Congenita in Identical Triplets.

Skinmed 2020 1;18(6):395. Epub 2020 Dec 1.

Department of Dermatology, University of Illinois College of Medicine, Chicago, IL.

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October 2021

Aplasia cutis congenita in a CDC42-related developmental phenotype.

Am J Med Genet A 2021 03 7;185(3):850-855. Epub 2020 Dec 7.

Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinical spectrum including Takenouchi-Kosaki syndrome, autoinflammatory syndromes and neurodevelopmental phenotypes mimicking RASopathies. Dysregulation of CDC42 signaling by genetic defects in either DOCK6 or ARHGAP31 is also considered to play a role in the pathogenesis of Adams-Oliver syndrome (AOS). Read More

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Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy.

Case Rep Pediatr 2020 7;2020:8813809. Epub 2020 Oct 7.

Pediatric Institute, Kuala Lumpur General Hospital, Kuala Lumpur, Malaysia.

Cutis marmorata telangiectatica congenita is characterized by the presence of a bluish-purple reticulated cutaneous vascular network on the skin intermixed with telangiectasia and occasionally prominent veins at birth. Areas of the skin within the reticulated cutaneous vascular network may be normal, erythematous, atrophic, and, at times, ulcerated. Areas of ulcerations and focal cutaneous and subcutaneous atrophy occasionally occur resulting in body asymmetry. Read More

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October 2020

Cutis marmorata telangiectasia congenita with painful ulcerations.

Dermatol Online J 2020 Jun 15;26(6). Epub 2020 Jun 15.

Center for Dermatology Research, Department of Dermatology, Wake Forest School of Medicine, Winston-Salem, NC.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, congenital, vascular disorder that may sometimes be associated with ulcerations of the involved skin. We present a case of CMTC, asymptomatic since birth, that began developing painful ulcerations during adolescence. Although laser therapy may benefit the superficial aspect of this vascular anomaly, the presence of deeper involvement in lesions with ulcerations may not respond favorably to laser therapy and the best approach needs to be further evaluated. Read More

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Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: a diagnostic trap.

Pediatr Dermatol 2020 Sep 4;37(5):979-980. Epub 2020 Aug 4.

Department of Dermatology, Rutgers Robert Wood Johnson Medical School, Somerset, NJ, USA.

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 less commonly be associated with systemic anomalies. Occasionally, the characteristic pattern of CMTC lesions is masked on initial presentation, creating a diagnostic conundrum that can result in unnecessary workups to rule out vasculopathy. We present the case of a female newborn with a red-blue ulcerated skin lesion on the right leg and foot, which initially appeared as retiform purpura but evolved to exhibit the mottled pattern of CMTC by 5 days of age. Read More

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September 2020

Cutis marmorata telangiectatica congenita.

Arch Dis Child Fetal Neonatal Ed 2021 Jan 6;106(1):75. Epub 2020 Jul 6.

Paediatrics, Stoke Mandeville Hospital, Aylesbury, Buckinghamshire, UK.

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January 2021

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.

J AAPOS 2020 06 6;24(3):186-188. Epub 2020 Jun 6.

VitreoRetinal Surgery, PA, Edina, Minnesota. Electronic address:

Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita of the scalp and transverse limb defects. Other clinical features reported in association with AOS include cardiac malformations, cutis marmorata telangiectatica congenita, prenatal complications, and ophthalmic abnormalities. Reported ophthalmic manifestations range from Peters anomaly-like findings and cataract formation to incomplete or abnormal retinal vasculature, optic nerve hypoplasia, and rod dystrophy. Read More

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Ophthalmologic alterations in cutis marmorata telangiectatica congenita: a series of cases.

Arq Bras Oftalmol 2020 06 29;83(3):239-241. Epub 2020 May 29.

Departamento de Oftalmologia, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.

Cutis marmorata telangiectasia congenita is a rare cutaneous vascular disorder that may be associated with different systemic manifestations like body asymmetry, cutaneous, ophthalmologic, vascular, and neurological manifestations. We describe ophthalmologic alterations found in three patients with cutis marmorata telangiectatica congenita highlighting the rare retinal manifestations. Read More

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Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors.

Ophthalmic Genet 2020 04 31;41(2):101-107. Epub 2020 Mar 31.

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder typified by localized or generalized cutaneous vascular anomalies, which dissipate over time. We review the diagnostic approach to CMTC and present a comprehensive examination of its ocular manifestations. Additionally, we offer recommendations for the ophthalmologic workup for patients with CMTC. Read More

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A Plum-Colored Reticular Birthmark in a Neonate.

J Pediatr 2020 06 11;221:256-257. Epub 2020 Mar 11.

Department of Pediatrics; Medstar Washington Hospital Center/Georgetown University Hospital, Washington, District of Columbia.

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[Polymorphism and differential diagnosis of neonatal lupus erythematosus].

Ann Dermatol Venereol 2020 Apr 12;147(4):258-264. Epub 2020 Mar 12.

Service de dermatologie, hôpital Robert-Debré, 75019 Paris, France.

Introduction: Neonatal lupus erythematosus (NEL) is a rare condition secondary to transplacental transfer of maternal anti-nuclear antibodies, generally anti-Ro/SSA. The most common signs are dermatological and cardiac. The most frequently reported clinical association is periorbital erythema, known as "owl eye", and bipolar erythematous maculopapular plaques with fine scales. Read More

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Cutis marmorata telangiectatica congenita-like lesion with fibrotic appearance.

Pediatr Dermatol 2020 Jan;37(1):204-206

Department of Pediatric Dermatology, University Children's Hospital Zurich, Zurich, Switzerland.

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January 2020

Cutis marmorata telangiectatica congenita: a literature review.

Orphanet J Rare Dis 2019 12 4;14(1):283. Epub 2019 Dec 4.

Department of Dermatology and Allergy Centre, J.B. Winsløws Vej 4, Entrance 142, 5000, Odense C, Denmark.

Background: Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Read More

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December 2019

New case of phacomatosis cesio-flammeo-marmorata: the time is right to review the classification for phacomatosis pigmentovascularis.

Ahmed S Chehad

Int J Dermatol 2019 Dec 29;58(12):e237-e240. Epub 2019 Aug 29.

Dermatology Department, University Constantine III, University Hospital Centre, Daira de Constantine, Algeria.

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December 2019

A rare vascular lesion of newborn: cutis marmorata telangiectatica congenital.

Turk Pediatri Ars 2019 11;54(2):133-136. Epub 2019 Jul 11.

Department of Neonatology, İzmir Dr. Behçet Uz Children's Hospital, İzmir, Turkey.

Cutis marmorata telangiectatica congenita is a rare, benign, sporadic and cutaneous vascular disease. A newborn female baby whose mother was aged 29 years and used propylthiouracil during pregnancy was hospitalized because of varicose lesions on the skin of the lower extremity and on the back, which were present at birth. It was observed that the lesions did not disappear, although appropriate room temperature was provided. Read More

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Image Gallery: Atrophic cutis marmorata telangiectatica congenita.

Br J Dermatol 2019 08 26;181(2):e32. Epub 2019 Jun 26.

Ramon y Cajal University Hospital - Dermatology, Carretera Colmenar Viejo, km 9,100, Madrid, 28034, Spain.

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Phakomatosis Pigmentovascularis: A Clinical Profile of 11 Indian Patients.

Indian J Dermatol 2019 May-Jun;64(3):217-223

Department of Dermatology, Venereology, and Leprosy, R.G. Kar Medical College, Kolkata, West Bengal, India.

Introduction: Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized by the simultaneous presence of capillary malformation and pigmentary nevi. The objective of our study was to describe the clinical characteristics of a series of Indian patients presenting with this rare entity.

Materials And Methods: It was a record-based descriptive case series. Read More

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Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita.

Ophthalmol Retina 2019 09 1;3(9):791-801. Epub 2019 May 1.

Department of Ophthalmology and Visual Sciences, University of Michigan, W. K. Kellogg Eye Center, Ann Arbor, Michigan. Electronic address:

Purpose: To describe the range of ocular manifestations in cutis marmorata telangectatica congenita (CMTC).

Design: Multicenter, retrospective, nonconsecutive case series.

Participants: Patients with a diagnosis of CMTC referred for ophthalmologic evaluation between January 1, 2015, and December 31, 2018. Read More

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September 2019

[Syndromes with vascular skin anomalies].

Rudolf Happle

Hautarzt 2019 Jul;70(7):474-480

Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland.

Background: In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.

Objective: To render dermatologists in practice capable of recognizing and classifying such cutaneous markers.

Material And Methods: On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication. Read More

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[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita].

Ann Dermatol Venereol 2019 Mar 9;146(3):223-225. Epub 2019 Jan 9.

Service de néonatologie et réanimation néonatale, CHU Hassan II, Fès, Maroc.

Adams-Oliver syndrome (AOS) is a congenital condition characterized by congenital aplasia cutis and transverse limb defects. Herein we report a case of an infant with severe intra-uterine growth restriction presenting AOS associated with cutis marmorata telangiectatica but with no other organ complications. The outcome was complicated by hemorrhagic and septic shock, which resulted in the death of the infant in a setting of multiorgan failure. Read More

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Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation.

BMJ Case Rep 2018 Oct 7;2018. Epub 2018 Oct 7.

Department of Neonatology, KK Women's and Children's Hospital, Singapore, Singapore.

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October 2018