293 results match your criteria: "Cutis Marmorata Telangiectatica Congenita"

PIK3CA-related overgrowth spectrum (PROS) disorders are caused by somatic mosaic variants that result in constitutive activation of the phosphatidylinositol-3-kinase/AKT/mTOR pathway. Promising responses to molecularly targeted therapy have been reported, although identification of an appropriate agent can be hampered by the mosaic nature and corresponding low variant allele frequency of the causal variant. Moreover, our understanding of the molecular consequences of these variants-for example how they affect gene expression profiles-remains limited.

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The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.

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Adams-Oliver syndrome (AOS) is a rare inherited disorder characterized by aplasia cutis congenita, cutis marmorata telangiectatica congenita, and terminal limb defects. Ocular associations have been rarely reported. We report a 6-month-old boy with AOS associated with refractory glaucoma, megalocornea, and anterior polar cataract.

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Article Synopsis
  • Cutis marmorata telangiectatica congenita (CMTC) is characterized by a marbled appearance of the skin and can be linked to various complications.
  • A thorough evaluation by multiple medical specialties is essential for effective management of CMTC.
  • Current treatment options are not well-established due to limited evidence, highlighting the need for more research and comprehensive care approaches.
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Article Synopsis
  • - Cutis marmorata telangiectatica congenita is a rare vascular malformation seen at birth, marked by skin abnormalities and potential systemic issues, including eye problems like glaucoma and cataracts.
  • - A case involving a female infant showed signs of this condition, including livedo reticularis and alopecia, leading to further examination by an ophthalmologist.
  • - The funduscopy revealed serious retinal issues, prompting successful laser treatment, emphasizing the need for early eye evaluations to avoid complications like retinal detachment.
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Article Synopsis
  • The study reports two cases of pediatric patients with cutis marmorata telangiectatica congenita (CMTC) showing enlarged foveal avascular zones on optical coherence angiography (OCTA).
  • A 10-week-old girl and a 3-year-old boy were examined, showing peripheral avascularity and enlargement of the foveal zone in both eyes.
  • It emphasizes the importance of using both fluorescein angiography (FA) and OCTA for eye examinations in children with CMTC to better assess retinal health.
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Newborn with cutis marmorata telangiectatica congenita.

An Pediatr (Engl Ed)

May 2024

Unidad Neonatal, Servicio de Pediatría, Hospital Universitario Marqués de Valdecilla, Santander (Cantabria), Spain; Departamento de Ciencias Médicas y Quirúrgicas, Universidad de Cantabria, Santander (Cantabria), Spain.

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Optimization by mixture design of chitosan/multi-phase calcium phosphate/BMP-2 biomimetic scaffolds for bone tissue engineering.

J Mech Behav Biomed Mater

April 2024

Grupo de Investigación en Biomateriales, Programa de Bioingeniería, Facultad de Ingeniería, Universidad de Antioquia, Medellín, Antioquia, Colombia.

Article Synopsis
  • This study focuses on enhancing the properties of chitosan/multi-phase calcium phosphate (MCaP) scaffolds for bone tissue engineering by optimizing their composition to create a suitable mechanical and biochemical environment.
  • The best-performing scaffold composition (18.4% MCaP) showed significant improvements in strength, elasticity, porosity, and degradation rates, making it suitable for biological applications.
  • The research also found that the biofunctionalization of the scaffolds with BMP-2 boosted stem cell proliferation and differentiation, indicating the scaffolds' potential effectiveness in promoting bone regeneration.
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Article Synopsis
  • Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation that causes a persistent reticular and purplish skin appearance, and the text discusses two cases of CMTC.
  • The first case is of a 13-month-old boy with a specific skin lesion and a biopsy showing mast cells, confirming CMTC and a solitary skin tumor, while the second case is a newborn with a CMTC lesion who later developed other tumors.
  • CMTC is generally benign, but it may coexist with other conditions, so medical assessments should check for additional malformations related to the condition.
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An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.

Orphanet J Rare Dis

November 2023

Department of General Paediatrics, Neonatology and Paediatric Cardiology, Medical Faculty, University Children's Hospital, Heinrich-Heine University, Düsseldorf, Germany.

Article Synopsis
  • The study investigates cases of hypoketotic hypoglycemia in infants, focusing on those who have low insulin levels but may still resemble congenital hyperinsulinism (CHI).
  • Researchers analyzed the metabolic profiles and genetic data of six infants, discovering two with pathogenic PIK3CA variants related to their condition, which were misdiagnosed as CHI.
  • The findings suggest a new metabolic category for hypoinsulinemic hypoketotic hypoglycemia, emphasizing the need for better differentiation from CHI to ensure appropriate treatment.
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Article Synopsis
  • Activating mutations in the PIK3CA gene lead to a variety of disorders known as PIK3CA-related overgrowth spectrum (PROS), which includes syndromes like CLOVES and MCAP.
  • The study focused on detecting mosaic variants in PIK3CA, which are challenging to identify but critical for diagnosing PROS.
  • By using deep sequencing technologies, specifically the Illumina TruSight Oncology 500 panel, researchers successfully identified pathogenic mosaic variants in all patients tested, emphasizing the need for enhanced genetic screening in this area.
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Article Synopsis
  • CMTC is a congenital capillary malformation that presents as dark blue or purple skin patterns and can be associated with skin atrophy and ulceration; it is usually localized but can rarely be generalized.
  • A study of 78 patients with CMTC revealed that most cases were localized, with generalized cases often fitting the criteria for Adams-Oliver syndrome, showing mainly skin-related issues.
  • The findings suggest that children with localized CMTC have a very low risk of other physical abnormalities, with mild limb asymmetry being the most common associated issue, indicating that routine extensive evaluations are not necessary.
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Article Synopsis
  • Diffuse capillary malformation with overgrowth (DCMO) is a rare condition involving capillary malformations and overgrowth of soft tissue, as demonstrated in a one-year-old boy with skin lesions present since birth.
  • The child exhibited widespread reticulated red patches on his skin, and noticeable size differences in the circumference of his legs, along with syndactyly (fused toes) on his right foot.
  • After ruling out other conditions, the child was diagnosed with DCMO and will be monitored by pediatric orthopedics for ongoing assessment of growth asymmetry.
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Article Synopsis
  • * Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular condition characterized by a marbled skin appearance, with diagnosis mainly based on visible symptoms.
  • * This report discusses a preterm baby boy with both RSTS and CMTC who was found to have a new mutation in the CREBBP gene, contributing to the understanding of genetic causes of these disorders.
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[Update on nevi and nevoid skin disorders].

Dermatologie (Heidelb)

May 2023

Universitäts-Hautklinik, Hauptstr. 7, 79104, Freiburg, Deutschland.

Article Synopsis
  • Autosomal dominant inheritance can manifest in a sex-limited manner, where some genetic conditions affect only females despite males carrying the gene.
  • Conditions like Grosshans' white lentiginosis and CELSR1-related lymphedema show this pattern, with affected males remaining asymptomatic but able to transmit the gene.
  • Other unique skin conditions, such as cerebriform sebaceous nevus and transient abdominal telangiectasia in newborns, have distinct genetic causes and presentations that are important for accurate diagnosis.
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Article Synopsis
  • Capillary malformations are slow-flow vascular issues that affect small blood vessels, potentially leading to growth differences, particularly undergrowth, which is not well-researched.
  • Recent findings have linked a genetic variant in the AKT3 gene to a case of capillary malformation with undergrowth, expanding the understanding of related vascular conditions.
  • Further research is essential to explore the connection between capillary malformations and undergrowth, as varied genetic mutations could lead to different disease manifestations.
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Article Synopsis
  • Hemimegalencephaly (HME) is a rare neurological condition where one side of the brain grows abnormally larger than the other due to excessive neural cells.
  • The report details a specific case of HME linked to megalencephaly-capillary malformation syndrome, highlighting important prenatal diagnosis and delivery considerations.
  • This is the first documented case that outlines the journey from diagnosing HME prenatally to the delivery process of the affected infant.
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Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism.

Eur J Med Genet

February 2023

Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; Equipe GAD, INSERM UMR1231, Université de Bourgogne, Dijon, France.

Article Synopsis
  • The study focuses on children with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) who also have Chiari Malformation Type 1 (CM1) and undergo surgical treatment, looking to describe surgical outcomes and the genetic factors involved.* -
  • Two cases from a national cohort were reviewed, with tissue samples collected during surgery to analyze PIK3CA variant allele frequency (VAF) in the cerebellum and surrounding tissues, revealing issues like hydrocephalus and syringomyelia.* -
  • Findings suggest that recognizing CM1 in MCAP patients is essential for personalized treatment, as variations in PIK3CA VAF may correlate with the diverse severity of
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