Cargando…

PIK3CA-related overgrowth with an uncommon phenotype: case report

BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined “PIK3CA-related overgrowth spectrum”. CASE PRESENTATION: We...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rotunno, Roberta, Diociaiuti, Andrea, Pisaneschi, Elisa, Carnevale, Claudia, Dentici, Marialisa, El Hachem, May
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097398/ https://www.ncbi.nlm.nih.gov/pubmed/35551640 http://dx.doi.org/10.1186/s13052-022-01268-9

Ejemplares similares

Angioma serpiginosum: a case report and review of the literature
por: Diociaiuti, Andrea, et al.
Publicado: (2019)

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study
por: Diociaiuti, Andrea, et al.
Publicado: (2022)

First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses
por: Diociaiuti, Andrea, et al.
Publicado: (2020)

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review
por: Rotunno, Roberta, et al.
Publicado: (2021)

Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu
por: Diociaiuti, Andrea, et al.
Publicado: (2021)

Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
por: Diociaiuti, Andrea, et al.
Publicado: (2021)

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**
por: Keppler-Noreuil, Kim M, et al.
Publicado: (2014)

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib
por: Morin, Gabriel, et al.
Publicado: (2022)

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly
por: Krishnamurthy, Kritika, et al.
Publicado: (2023)

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders
por: Madsen, Ralitsa R., et al.
Publicado: (2018)

Cutaneous Infantile Haemangiomas with Intracranial and Intraspinal Involvement: A European Multicentre Experience and Review
por: DIOCIAIUTI, Andrea, et al.
Publicado: (2020)

Clinical Profile of Overgrowth Syndromes Consistent with PROS (PIK3CA-Related Overgrowth Syndromes)—A Case Series
por: Mathew, Lydia, et al.
Publicado: (2020)

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum
por: Parker, Victoria E. R., et al.
Publicado: (2018)

PIK3CA-Related Overgrowth Syndrome (PROS) and Angiosarcoma: A Case Report
por: Weinstein, Brielle, et al.
Publicado: (2020)

PIK3CA-related overgrowth spectrum (PROS): a rare case report
por: Kalo, Cedra, et al.
Publicado: (2023)

A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum
por: Ahakoud, Mohamed, et al.
Publicado: (2023)

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Koutlas, Ioannis G., et al.
Publicado: (2021)

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Koutlas, Ioannis G., et al.
Publicado: (2020)

ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
por: MATTIOLI, Girolamo, et al.
Publicado: (2022)

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences
por: Dexheimer, Joy, et al.
Publicado: (2022)

Successful Treatment of Hypoglycemia With Alpelisib in Pediatric Patients With PIK3CA-Related Overgrowth Spectrum
por: Nasomyont, Nat, et al.
Publicado: (2023)

Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies
por: Diociaiuti, Andrea, et al.
Publicado: (2021)

Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
por: El Hachem, May, et al.
Publicado: (2019)

Correction to: Italian translation, cultural adaptation, and pilot testing of a questionnaire to assess family burden in inherited ichthyoses
por: El Hachem, May, et al.
Publicado: (2020)

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
por: Roy, Achira, et al.
Publicado: (2015)

Segmental epidermal nevus and mucosal neuromas associated with PIK3CA-related overgrowth spectrum disorder
por: Roth, Gretchen M., et al.
Publicado: (2018)

Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America
por: Garneau, Alexandre P., et al.
Publicado: (2021)

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis
por: Diociaiuti, Andrea, et al.
Publicado: (2016)

Letter to editor: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
por: Maldonado, Andrés A., et al.
Publicado: (2022)

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome
por: Forde, Karina, et al.
Publicado: (2021)

Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report
por: Scharf, Jann Lennard, et al.
Publicado: (2021)

Xanthomatous nevus: A potential new entity
por: Corbeddu, Marialuisa, et al.
Publicado: (2021)

Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review
por: Auriti, Cinzia, et al.
Publicado: (2020)

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
por: Pagliazzi, Angelica, et al.
Publicado: (2021)

Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach
por: Rodríguez-Laguna, Lara, et al.
Publicado: (2022)

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)
por: Waberski, Marta Biderman, et al.
Publicado: (2018)

Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments
por: Raymond, Kimberly, et al.
Publicado: (2022)

Cloves Syndrome: A Rare Disorder of Overgrowth with Unusual Features – An Uncommon Phenotype?
por: Mahajan, Vikram K., et al.
Publicado: (2019)

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
por: Frisk, Sofia, et al.
Publicado: (2019)

Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center
por: Corbeddu, Marialuisa, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ju71du3brs2ls38nrujsf6leje