234 results match your criteria Cutis Marmorata Telangiectatica Congenita


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

Ann Dermatol Venereol 2019 Jan 9. 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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http://dx.doi.org/10.1016/j.annder.2018.11.009DOI Listing
January 2019

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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http://dx.doi.org/10.1136/bcr-2018-226763DOI Listing
October 2018

Cutis Marmorata Telangiectatica Congenita Presenting as a Fetal Hemothorax.

Fetal Diagn Ther 2018 May 23:1-4. Epub 2018 May 23.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA.

We report a case of a fetus diagnosed at 28 weeks' gestation with a spontaneous prenatal hemothorax. Fetal intervention consisted of 2 thoracenteses with analysis of the pleural effusion. The pregnancy was further complicated by recurrence of the hemothorax, with subsequent mediastinal shift, hydrops, and nonreassuring antenatal testing requiring delivery at 31 weeks' gestation. Read More

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http://dx.doi.org/10.1159/000488487DOI Listing
May 2018
1 Read

RETINAL NEOVASCULARIZATION FROM A PATIENT WITH CUTIS MARMORATA TELANGIECTATICA CONGENITA.

Retin Cases Brief Rep 2018 Mar 14. Epub 2018 Mar 14.

Department of Ophthalmology, Henry Ford Hospital, Detroit, Michigan.

Purpose: To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita (CMTC).

Methods: Observational case report.

Results: A 16-year-old girl was referred to clinic for retinal evaluation. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000736DOI Listing
March 2018
2 Reads

Cutis Marmorata Telangiectatica Congenita: a diagnostic challenge.

G Ital Dermatol Venereol 2018 Mar 6. Epub 2018 Mar 6.

Dermatology Unit "Daniele Innocenzi", Dept of Medical-Surgical Sciences and Bio-Technologies, Sapienza University of Rome, Fiorini Hospital, Polo Pontino, Terracina, Italy -

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http://dx.doi.org/10.23736/S0392-0488.18.05837-6DOI Listing
March 2018
5 Reads

Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.

Pediatr Dermatol 2018 May 1;35(3):e186-e188. Epub 2018 Mar 1.

Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.

A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term. Read More

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http://dx.doi.org/10.1111/pde.13441DOI Listing
May 2018
9 Reads

Van Lohuizen Syndrome - A Case Report with a Diagnostic Delay of Four Years.

Open Access Maced J Med Sci 2018 Jan 2;6(1):74-75. Epub 2018 Jan 2.

Department of Dermatology, Venereology and Dermatologic Surgery, Medical Institute of Ministry of Interior (MVR-Sofia), General Skobelev 79, 1606 Sofia, Bulgaria.

Background: Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far.

Case Report: We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations. Read More

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http://dx.doi.org/10.3889/oamjms.2018.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816322PMC
January 2018
3 Reads

Cutis marmorata telangiectatica congenita and major lower limb asymmetry.

BMJ Case Rep 2018 Jan 12;2018. Epub 2018 Jan 12.

Neonatal Intensive Care Unit, Maternidade Bissaya Barreto, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal.

A 39-week-old male newborn presented at birth with atrophic erythematous and purpuric skin lesions, in a typical right-sided segmental distribution. Lesions were persistent and unaffected by rewarming in the postpartum period. Postnatal echocardiogram showed a predominance of the right cavities and an upper atrial septal defect. Read More

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http://dx.doi.org/10.1136/bcr-2017-222269DOI Listing
January 2018
5 Reads

Outcomes of Infantile-Onset Glaucoma Associated With Port Wine Birthmarks and Other Periocular Cutaneous Vascular Malformation.

Asia Pac J Ophthalmol (Phila) 2018 Mar-Apr;7(2):95-98. Epub 2017 Dec 27.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL.

Purpose: The incidence of infantile-onset secondary glaucoma associated with periocular cutaneous vascular malformations is high and the outcomes of these glaucomatous eyes have anecdotally been poor. The purpose of this study was to determine the anatomic and visual outcomes of affected eyes.

Design: Retrospective case series. Read More

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http://dx.doi.org/10.22608/APO.2017447DOI Listing
May 2018
14 Reads

Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita.

Cutis 2017 Oct;100(4):252-254

Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania, USA.

We present a unique case of 3 vascular malformations-Sturge-Weber syndrome (SWS), facial infantile hemangioma (IH), and cutis marmorata telangiectatica congenita (CMTC)-with dermatologic manifestations presenting in the same patient. This case highlights the possibility of occurrence of multiple vascular malformations in the same patient; the potential role of epigenetic factors; and the importance of a multidisciplinary approach to diagnose, treat, and manage this complicated interplay of vascular abnormalities to achieve the best outcome. Read More

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October 2017
15 Reads

Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report.

Authors:
Ajay J Deshpande

J Cosmet Laser Ther 2018 Jun 13;20(3):145-147. Epub 2017 Dec 13.

a Dermatology , Joshi Hospital, Maharashtra Medical Foundation , Pune , India.

Cutis marmorata telangiectatica congenita is a rare disorder characterized by cutis marmorata, telangiectasia with or without recurrent ulcerations. It is a benign vascular anomaly with dilatation of capillaries and veins in the dermis. There is no satisfactory treatment for the ulcerative variety of cutis marmorata telangiectatica congenita. Read More

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http://dx.doi.org/10.1080/14764172.2017.1383616DOI Listing
June 2018
32 Reads

Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.

J Am Acad Dermatol 2017 Nov 16;77(5):874-878. Epub 2017 Aug 16.

Department of Dermatology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Background: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor.

Objective: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM).

Methods: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor. Read More

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http://dx.doi.org/10.1016/j.jaad.2017.06.014DOI Listing
November 2017
20 Reads

Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder?

Indian J Dermatol 2017 Mar-Apr;62(2):207-209

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.

A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis. Read More

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http://www.e-ijd.org/text.asp?2017/62/2/207/201760
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http://dx.doi.org/10.4103/0019-5154.201760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363148PMC
April 2017
12 Reads

Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S152-S156. Epub 2016 Nov 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Ulsan, Korea.

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics. Read More

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2016.59.11
Publisher Site
http://dx.doi.org/10.3345/kjp.2016.59.11.S152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177701PMC
November 2016
4 Reads

RETINAL FINDINGS IN A CASE OF PRESUMED CUTIS MARMORATA TELANGIECTATICA CONGENITA.

Retin Cases Brief Rep 2018 Fall;12(4):322-325

Retina Department, Retina Foundation, Ahmedabad, India.

Purposes: To correlate the clinical picture and fundus fluorescein angiography findings in case of presumed cutis marmorata telangiectatica congenita.

Methods: A 41-year-old woman with presumed cutis marmorata telangiectatica congenita who is a known case of hypothyroidism for the last 6 years and has bilateral peripheral retinal vascular abnormalities, peripheral retinal nonperfusion on fluorescein angiography and bilateral optic disk drusen.

Result: A patient presented with blurring of vision in both eyes for last 6 months. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000492DOI Listing
September 2018
7 Reads

Cutis Marmorata Telangiectatica Congenita: Clinical Features in 7 Cases.

J Med Assoc Thai 2016 Nov;99 Suppl 8:S227-S230

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 pathogenesis of CMTC is unknown. Additional anomalies have been frequently reported in association with CMTC. Read More

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November 2016

Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.

Pediatr Dermatol 2016 Nov 25;33(6):570-584. Epub 2016 Jul 25.

Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

Vascular stains are a common reason for consultation in pediatric dermatology clinics. Although vascular stains include all vascular malformations, the term is most often used to refer to capillary malformations, but capillary malformations include a wide range of vascular stains with different clinical features, prognoses, and associated findings. The discovery of several mutations in various capillary malformations and associated syndromes has reinforced these differences, but clinical recognition of these different types of capillary vascular stains is sometimes difficult, and the multitude of classifications and confusing nomenclature often hamper the correct diagnosis and management. Read More

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http://dx.doi.org/10.1111/pde.12939DOI Listing
November 2016
52 Reads

Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report.

Appl Neuropsychol Child 2017 Oct-Dec;6(4):369-377. Epub 2016 May 23.

d Department of Radiology , Virginia Commonwealth University , Richmond , Virginia , USA.

Megalencephaly-Capillary Malformation Polymicrogyria (M-CAP) is a rare genetic disorder characterized by a spectrum of anomalies including macrocephaly and neurovascular malformations. Although developmental delays have been identified, research is devoid of neuropsychological data. This case report presents the neuropsychological profile of a 7-year-old, identified with M-CAP. Read More

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http://dx.doi.org/10.1080/21622965.2016.1182432DOI Listing
May 2018
13 Reads

Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report.

Arch Argent Pediatr 2016 Apr 1;114(2):e111-3. Epub 2016 Apr 1.

Department of Neonatology, Tıp Fakültesi, İzmir Katip Çelebi Üniversitesi, İzmir, Turkey.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18. Read More

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http://dx.doi.org/10.5546/aap.2016.eng.e111DOI Listing
April 2016
8 Reads

Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata.

JAAD Case Rep 2016 Jan 23;2(1):28-30. Epub 2016 Jan 23.

Department of Dermatology and STD, Changping Hospital of Dongguan and Zhujiang Hospital, Guangzhou, China.

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http://dx.doi.org/10.1016/j.jdcr.2015.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809441PMC
January 2016
8 Reads

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

J Neurosurg Pediatr 2016 Jul 1;18(1):79-82. Epub 2016 Apr 1.

Departments of 1 Neurology.

The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. Read More

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http://dx.doi.org/10.3171/2016.1.PEDS15482DOI Listing
July 2016
10 Reads

[Cutis marmorata telangiectatica congenita: Mutations in a susceptibility gene involved in cerebrovascular accidents].

Authors:
O Dereure

Ann Dermatol Venereol 2016 Jan 18;143(1):96-7. Epub 2015 Dec 18.

Unité Inserm U1058, département de dermatologie, hôpital Saint-Éloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01519638150121
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http://dx.doi.org/10.1016/j.annder.2015.11.004DOI Listing
January 2016
15 Reads

Phacomatosis cesiomarmorata with hypospadias and phacomatosis cesioflammea with Sturge-Weber syndrome, Klippel-Trenaunay syndrome and aplasia of veins -- case reports with rare associations.

Dermatol Online J 2015 Sep 17;21(9). Epub 2015 Sep 17.

Government Medical College, Amritsar.

Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by the co-existence of an extensive vascular and a pigmentary nevus with or without extracutaneous manifestations. We report two such rare cases. The first is a 3-year-old boy exhibiting a rare association of cutis marmorata telangiectatica congenita with aberrant dermal melanocytosis along with hypospadias and melanosis oculi (traditionally classified as PPV type Vb or phacomatosis cesiomarmorata - Happle's classification). Read More

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September 2015
20 Reads

Management of Vascular Anomalies and Related Conditions Using Suction-Assisted Tissue Removal.

Plast Reconstr Surg 2015 Oct;136(4):511e-4e

Boston, Mass. From the Department of Plastic and Oral Surgery, Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School.

Unlabelled: Vascular anomalies and related conditions cause overgrowth of tissues. The purpose of this study was to determine the efficacy and safety of liposuction techniques for pediatric overgrowth diseases. Patients treated between 2007 and 2015 who had follow-up were reviewed. Read More

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http://dx.doi.org/10.1097/PRS.0000000000001558DOI Listing
October 2015
7 Reads
1 Citation
2.993 Impact Factor

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

Clin Dysmorphol 2016 Jan;25(1):16-8

Manchester Centre for Genomic Medicine, Manchester, UK.

The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are frequently not identified in lymphocyte DNA, with biopsies of the affected tissues often being required to detect mosaic mutations. Such invasive procedures are not always acceptable to parents. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000099DOI Listing
January 2016
23 Reads

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis.

An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):10-2

Third Affi liated Hospital, Sun Yat-sen Universit, Guangdong, CN.

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20153466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540495PMC
January 2016
8 Reads

Red-white and blue baby: a case of phacomatosis pigmentovascularis type V.

Dermatol Online J 2015 Jun 16;21(6). Epub 2015 Jun 16.

Mater Children's Hospital, Brisbane, Australia.

Phacomatosis pigmentovascularis is a rare genodermatosis characterized by the combination of an extensive pigmentary nevus with a widespread vascular nevus. The coexistence of aberrant dermal melanocytosis and cutis marmorata telangiectatica congenita has been termed phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata. Phacomatosis pigmentovascularis type V was first described in a 3-month-old boy in 2000. Read More

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http://escholarship.org/uc/item/2b0980p8.pdf
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June 2015
6 Reads

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

Hum Genet 2015 Aug 10;134(8):815-22. Epub 2015 May 10.

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh, 11211, Saudi Arabia.

Cutis Marmorata Telangiectatica Congenita (CMTC) is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be associated with other cutaneous or systemic manifestations. About 300 cases have been reported. Read More

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http://link.springer.com/content/pdf/10.1007/s00439-015-1561
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http://link.springer.com/10.1007/s00439-015-1561-6
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http://dx.doi.org/10.1007/s00439-015-1561-6DOI Listing
August 2015
7 Reads

Capillary malformations: a classification using specific names for specific skin disorders.

Authors:
R Happle

J Eur Acad Dermatol Venereol 2015 Dec 10;29(12):2295-305. Epub 2015 Apr 10.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Read More

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http://dx.doi.org/10.1111/jdv.13147DOI Listing
December 2015
11 Reads

[Cutis marmorata telangiectatica congenita revealing neonatal lupus].

Pan Afr Med J 2014 27;18:339. Epub 2014 Aug 27.

Service de Dermatologie et de Vénéréologie, CHU Ibn Rochd, Casablanca, Maroc.

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http://dx.doi.org/10.11604/pamj.2014.18.339.5013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282810PMC
August 2015
6 Reads

Cutis marmorata telangiectatica congenita in a preterm female newborn: case report and review of the literature.

Pediatr Med Chir 2014 Aug 31;36(4):90. Epub 2014 Aug 31.

NICU-Neonatology, ASO S. Croce e Carle, Cuneo.

Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathogenesis of this disorder is unknown and the cause is probably multifactorial. Read More

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http://www.pediatrmedchir.org/index.php/pmc/article/view/90
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http://dx.doi.org/10.4081/pmc.2014.90DOI Listing
August 2014
13 Reads

Cutis marmorata telangiectatica congenita restricted to both breasts in a young female.

Dermatol Pract Concept 2014 Jul 31;4(3):89-92. Epub 2014 Jul 31.

Bhingare Laboratories, Pune, India.

Cutis marmorata telangiectatica congenita (CMTC) is a very rarely occurring congenital disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. This disorder may be associated with cutaneous atrophy and ulceration of the involved skin. We herewith report a 20-year-old female patient with CMTC since childhood along with ulcerations on both breasts. Read More

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http://dx.doi.org/10.5826/dpc.0403a20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132010PMC
July 2014
6 Reads

Complications of infantile hemangiomas.

Authors:
Bernardo Gontijo

Clin Dermatol 2014 Jul-Aug;32(4):471-6. Epub 2014 Feb 28.

Department of Dermatology, Federal University of Minas Gerais School of Medicine, Rua Domingos Viera, 300 Suite 505,30150-240 Belo Horizonte, MG, Brazil. Electronic address:

Most infantile hemangiomas have a spontaneous and uneventful involution and, hence, may be treated expectantly. Others, however, will present some complication along their evolution that may require prompt therapeutic interventions. Ulceration is the most common complication, and amblyopia is frequently associated with periocular tumors. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0738081X140003
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http://dx.doi.org/10.1016/j.clindermatol.2014.02.002DOI Listing
April 2015
17 Reads

Current workup and therapy of infantile hemangiomas.

Clin Dermatol 2014 Jul-Aug;32(4):459-70

Vascular Birthmark Institute of New York, Mt. Sinai Roosevelt Hospital, New York, NY.

Many practitioners assume every vascular lesion is a hemangioma; then tell parents not to worry, because hemangiomas "go away" after they grow. In fact, over the past three decades, advances in the stratification of vascular lesions, identification of clinical associations and syndromic vascular anomalies, and the discovery of germline and somatic mutations accompanying certain vascular anomalies have broadened our understanding. Concomitantly, the evaluation and management of vascular anomalies have become more sophisticated, and a laissez-faire approach is often inadequate. Read More

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http://dx.doi.org/10.1016/j.clindermatol.2014.02.001DOI Listing
April 2015
5 Reads

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Eur J Hum Genet 2015 Mar 18;23(3):409-12. Epub 2014 Jun 18.

1] Institute of Clinical Genetics, Klinikum Stuttgart, Stuttgart, Germany [2] CeGaT GmbH, Tübingen, Germany.

Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Read More

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http://dx.doi.org/10.1038/ejhg.2014.118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326712PMC
March 2015
18 Reads

Adams-Oliver syndrome.

J Coll Physicians Surg Pak 2014 May;24 Suppl 2:S76-7

Department of Dermatology, Rehman Medical College, Peshawar.

A new-born male baby with typical features of Adams-Oliver syndrome (AOS) is described. Adams-Oliver syndrome is the association of aplasia cutis congenita with terminal transverse limb reduction defects with or without cutis marmorata telangiectatica congenita. The patient presented with brachydactyly involving all the digits of his hands and shortening of both big toes along with aplasia cutis on the scalp. Read More

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http://dx.doi.org/05.2014/JCPSP.S76S77DOI Listing
May 2014
6 Reads

Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting.

Br J Dermatol 2014 Mar;170(3):681-6

Department of Orthopaedics, Great Ormond Street Hospital, Great Ormond Street, London, WC1N 3JH, U.K.

Background: Cutis marmorata telangiectatica congenita (CMTC) is a vascular malformation, diagnosed based on cutaneous manifestations. It is associated with limb length discrepancy (LLD) and asymmetry, but the exact extent of this and its relationship to the site of the cutaneous manifestations have not been delineated.

Objectives: To review the orthopaedic problems associated with CMTC, concentrating on the assessment and management of the LLD. Read More

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http://doi.wiley.com/10.1111/bjd.12700
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http://dx.doi.org/10.1111/bjd.12700DOI Listing
March 2014
7 Reads

Cutis marmorata telangiectatica congenita.

Indian Dermatol Online J 2014 Jan;5(1):80-2

Department of Pediatrics, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India.

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation, characterised by a fixed, generalised or localised, reticulate erythematous rash. We report an eighty day old male child who presented with the above lesion involving the left upper and lower limbs with underlying atrophic changes. Read More

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http://dx.doi.org/10.4103/2229-5178.126042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937499PMC
January 2014
3 Reads

Strokelike episodes and cutis marmorata telangiectatica congenita.

J Child Neurol 2015 Jan 13;30(1):129-32. Epub 2014 Feb 13.

Department of Pediatric Neurology, Academic Medical Center, Amsterdam, the Netherlands

We report the case of a boy with cutis marmorata telangiectatica congenita, strokelike episodes, and a pinpoint stenosis of the left internal carotid artery. To our knowledge, this is the first report of a stenosis of an intracranial artery in a patient with cutis marmorata telangiectatica congenita. Read More

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http://dx.doi.org/10.1177/0883073813516675DOI Listing
January 2015
2 Reads

Cutis marmorata telangiectatica congenita.

Authors:
Jyoti Sharma

J Clin Neonatol 2013 Oct;2(4):199

Department of Pediatrics, Dr. R P G Medical College Kangra, Himachal Pradesh, India.

Cutis Marmarata Telangiectatica is a benign vascular anomaly that manifests as dilatation of superficial capilllaries and veins usually present at birth. Read More

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http://dx.doi.org/10.4103/2249-4847.123107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883219PMC
October 2013
4 Reads

Co-occurrence of hemiscrotal agenesis with cutis marmorata telangiectatica congenita and hydronephrosis affecting the same side of the body.

Am J Med Genet A 2014 Jan 15;164A(1):199-203. Epub 2013 Nov 15.

Servicio de Genética, División de Pediatría, Hospital Civil de Guadalajara "Dr. Juan I. Menchaca", Guadalajara, Jalisco, Mexico; Instituto de Genética Humana "Dr. Enrique Corona-Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.

To our knowledge, there are nine previous reports of patients with congenital scrotal agenesis (CSA), seven of which were bilateral, and unilateral in two, also named as hemiscrotal agenesis (HSA). Here, we report a male infant with the previously undescribed co-occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to vesicoureteral reflux, all of them on the left side. CMTC is a segmental vascular malformation usually attributed to mosaicism of a postzygotic mutation, whereas the mechanisms in the CSA involve a failure on the labioscrotal fold (LSF) development due to a localized 5α-reductase deficiency and/or androgen insensitivity. Read More

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http://dx.doi.org/10.1002/ajmg.a.36210DOI Listing
January 2014
8 Reads

Cutis marmorata telangiectatica congenital.

BMJ Case Rep 2013 Oct 17;2013. Epub 2013 Oct 17.

Department of Dermatology and Venereology, Hospital de Braga, Braga, Portugal.

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http://dx.doi.org/10.1136/bcr-2013-200056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3822058PMC
October 2013
3 Reads

Focal and atrophic cutis marmorata telangiectatica congenita.

J Am Acad Dermatol 2013 Nov;69(5):e268-e269

Department of Dermatology, St Eloi Hospital, CHU Montpellier, France; University of Montpellier I, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2013.07.020DOI Listing
November 2013
2 Reads

Diffuse capillary malformation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy.

J Am Acad Dermatol 2013 Oct 29;69(4):589-94. Epub 2013 Jul 29.

Dermatology Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts. Electronic address:

Background: Categorization of vascular anomalies with overgrowth is evolving rapidly with the aid of massively parallel genomic sequencing; however, accurate clinical diagnosis is still essential. We identified a group of patients with an extensive, diffuse, reticulate capillary malformation (CM) and variable hypertrophy without major complications.

Objective: We sought to study a subset of patients with diffuse CM to better define prognosis and management. Read More

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http://dx.doi.org/10.1016/j.jaad.2013.05.030DOI Listing
October 2013
24 Reads

Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions.

An Bras Dermatol 2013 May-Jun;88(3):428-31

Medical School of Jundiaí, Jundiai, SP, Brazil.

Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20131832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3754378PMC
June 2014
7 Reads

Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita.

Ophthalmic Surg Lasers Imaging Retina 2013 Jul-Aug;44(4):398-400. Epub 2013 Jun 12.

Cutis marmorata telangiectatica congenita is a well-characterized cutaneous vascular disorder with variable and rare ocular involvement. It has been reported in association with glaucoma, bilateral congenital retinal detachments, bilateral tractional retinal detachments secondary to proliferative vitreoretinopathy, and retinoblastoma. This case demonstrates novel findings of bilateral peripheral retinal vascular abnormalities and retinal nonperfusion on fluorescein angiography without retinal detachment that have not previously been described in cutis marmorata telangiectatica congenita. Read More

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http://www.healio.com/doiresolver?doi=10.3928/23258160-20130
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http://dx.doi.org/10.3928/23258160-20130604-01DOI Listing
February 2014
5 Reads