Results 71 to 80 of about 7,800 (196)

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul   +5 more
wiley   +1 more source

Topical timolol for treatment of persistent granulation tissue in the setting of severe hidradenitis suppurativa [PDF]

open access: yes, 2019
Hidradenitis suppurativa (HS) is a potentially debilitating dermatological disease that negatively impacts patients' quality of life. Severe cases can be further complicated by persistent granulation tissue at the ostia of sinus tracts, which may prove ...
Chen, Xizhao, Guffey, Darren J
core  

Clinical analysis of kasabach-merritt syndrome in 17 neonates [PDF]

open access: yes, 2014
BACKGROUND: Kasabach-Merritt syndrome (KMS) is characterized by giant hemangiomas and severe thrombocytopenia, which may result in life-threatening multi-organ hemorrhage.
Li Tao   +4 more
core   +1 more source

Unveiling Infantile Hemangiomas: A Comprehensive Study of Patterns, Presentations, and Complications

open access: yesDermatology Practical & Conceptual
Background: Infantile Hemangioma is the most common vascular tumor in infants, affecting 4% to 10% of this population. It typically appears as a solitary cutaneous hemangioma but can also be multifocal or segmental.
Prashansa Jaiswal   +4 more
doaj   +1 more source

Out of Hand, Out of Control—Fibrous Hamartoma of Infancy of the Hand: A Case Report

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Fibrous hamartoma of infancy (FHI) is a rare benign tumor typically found in the axilla or trunk. Distal extremity involvement is exceptional. We present the first documented case of FHI of the hand in the Philippine literature, highlighting the conflict between oncologic clearance and functional preservation. Case Presentation A 7‐month‐old
Josh Nathan L. Ngai   +3 more
wiley   +1 more source

Propranolol in Infantile Hemangioma Treatment. Experience in 2 Cases [PDF]

open access: yes, 2011
Introdução: O Hemangioma infantil é o tumor benigno mais frequente na idade pediátrica. A maioria tem evolução favorável, no entanto dependendo da sua localização, podem levar à distorsão de estruturas anatómicas ou a outras complicações locais ou ...
Cardoso, J   +3 more
core  

Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients [PDF]

open access: yes, 2015
[Background] Von Hippel-Lindau (VHL) disease is a rare oncological disease with an incidence of 1:36,000, and is characterized by the growth of different types of tumors: hemangioblastomas in the central nervous system (CNS) and retina ...
Albiñana, Virginia   +7 more
core   +1 more source

Diffuse hepatic hemangioma with single cutaneous hemangioma: an alerting occurrence

open access: yesClinical Case Reports, 2017
Key Clinical Message Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. However, diffuse hepatic hemangioma can develop even in patients with single cutaneous hemangioma. This highlights
Faten Al Tasseh   +4 more
doaj   +1 more source

Intestinal Atresia in PPP1R12A ‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

INFANTILE HAEMANGIOMA [PDF]

open access: yes, 2016
Os hemangiomas infantis são os tumores mais comuns da infância, ocorrendo em cerca de 3 a 10% das crianças com ida- de inferior a um ano de idade, com predomínio no sexo feminino.
Passas, Maria Armanda, Teixeira, Marta
core   +1 more source

Home - About - Disclaimer - Privacy