Results 21 to 30 of about 30,638 (241)

Optical coherence tomography and fundus autofluorescence findings in presumed congenital simple retinal pigment epithelium hamartoma

GMS Ophthalmology Cases, 2017
Aim: Presumed congenital simple retinal pigment epithelium hamartoma is a rare benign lesion of the macula that mimics congenital hypertrophy of the retinal pigment epithelium (RPE) and combined hamartoma of the retina and the RPE; newer imaging ...
Baskaran, Prabu, Shukla, Dhananjay, Shah, Parag   +2 more
doaj   +1 more source

Adult hamartoma of the chest wall: A case report

Frontiers in Oncology, 2022
This paper retrospectively analyzed the case data of an adult hamartoma of the left chest wall, and combined with the literature analysis, to discuss the clinical characteristics, imaging diagnosis and differential diagnosis of hamartoma.
Dong Bai, Yan-han Liu
doaj   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

Young man with nonresolving pneumonia

The Egyptian Journal of Bronchology, 2018
Hamartoma is a benign lung tumor. Parenchymal hamartomas are usually asymptomatic, but endobronchial hamartoma can present with features of obstruction. Here, we present a case of a young man who presented with nonresolving pneumonia.
Nithya Haridas, Asmita Mehta, Tajik S. Mohammed, Indu R. Nair   +3 more
doaj   +1 more source

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome [PDF]

, 2003
Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle ...
Burgdorf, Walter H. C., Itin, Peter H., Lautenschlager, Stephan, Rohwedder, A., Schaller, Jörg   +4 more
core   +1 more source

Retroperitoneal Hamartoma: A Rare Entity

Journal of Nepal Medical Association, 2012
Retroperitoneal hamartoma in adult is an extremely rare entity. Here we report a case of 23-years-old lady who presented with alarge retroperitoneal mass and abdominal pain.
G Sigdel, K Karki, U Koirala, BD Joshi, SP Dhital   +4 more
doaj   +1 more source

Hypothalamic Hamartoma

Neurologia medico-chirurgica, 2005
The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis of its peculiar symptoms remain unclear, but recent electrophysiological, neuroimaging, and clinical studies have yielded important data. Categorizing HHs by the degree of hypothalamic
Kazunori, Arita, Kaoru, Kurisu, Yoshihiro, Kiura, Koji, Iida, Hiroshi, Otsubo   +4 more
openaire   +3 more sources

Nasal chondromesenchymal hamartoma with review of sinonasal tract cartilaginous lesions

Human Pathology Reports, 2022
Nasal chondromesenchymal hamartoma is a rare, benign lesion that contains mixed mesenchymal elements including cartilage. These lesions typically present as nasal masses in infants who are having symptoms of respiratory distress.
Justin Rueckert, Julie C. Dueber
doaj   +1 more source

Rhabdomyomatous mesenchymal hamartoma presenting as a polypoid lesion of the nasal skin in a child: answer

Journal of Pediatric and Neonatal Individualized Medicine, 2014
Rhabdomyomatous mesenchymal hamartoma (RMH) is a rare congenital lesion of the dermis and soft tissue, first described in 1986 as a striated muscle hamartoma.
Clara Gerosa, Daniela Fanni, Luca Pilloni, Filippo Carta, Roberto Puxeddu, Gavino Faa   +5 more
doaj   +1 more source

Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3

Frontiers in Surgery, 2021
Background: GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in GLI3 cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is
Yue Yang, Fang Shen, Xie-Pan Jing, Nu Zhang, Shang-Yu Xu, Dan-Dong Li, Ling-Li Zhou, Guang-Hui Bai, Huang-Yi Fang, Huang-Yi Fang, Zhong-Ding Zhang, Chen Pang, Chen Pang, Jian Lin, Han-Song Sheng   +14 more
doaj   +1 more source