Large facial segmental hemangiomas tend to be associated with extracutaneous abnormalities. We report a case of large progressive segmental facial hemangioma, sternal cleft and talipes equinovarus deformity.
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http://dx.doi.org/10.4103/2249-4847.134713 | DOI Listing |
J Anaesthesiol Clin Pharmacol
April 2024
Department of Anaesthesiology and Critical Care, All India Institute of Medical Sciences, Bathinda, Punjab, India.
J AAPOS
December 2024
Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada.
A 13-month-old boy presented to the pediatric ophthalmology clinic at BC Children's Hospital for strabismus assessment. On examination he had a right facial hemangioma, left ptosis, and left exotropia and hypotropia. Magnetic resonance imaging and magnetic resonance angiography of his head demonstrated posterior cerebral artery tortuosity producing mild mass effect on the left oculomotor nerve.
View Article and Find Full Text PDFPediatr Rep
December 2024
Pediatric and Rare Diseases Clinic, Microcitemico Hospital "A. Cao", Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.
Background: Houge-Janssens syndrome 1 is a condition with onset in early childhood caused by heterozygous pathogenic variants in the gene, which encodes a B56 regulatory subunit of the serine/threonine protein phosphatase 2A (PP2A). There is evidence that the PP2A-PPP2R5D complex is involved in regulating the phosphatidylinositol 3-kinase (PI3K)/AKT signalling pathway, which is crucial for several cellular processes, including the pathogenesis and progression of haemangiomas.
Case Presentation: We report the first -related neurodevelopmental disorder case from Sardinia, a child with transient hypoglycaemia, facial dysmorphisms, and multiple haemangiomas.
Int J Surg Case Rep
December 2024
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFEinstein (Sao Paulo)
December 2024
Centro Estadual de Reabilitação e Readaptação Dr. Henrique Santillo, Goiânia, GO, Brazil.
Hemangiomas are benign congenital vascular tumors that commonly arise in the head and neck regions. Although they present with indolent growth and involution in most cases, they can cause facial deformities. Hemangiomas have three subtypes: capillary, cavernous, and mixed.
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