Results 11 to 20 of about 30,430 (219)
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 +7 more
core +2 more sources
Eccrine Angiomatous Hamartoma in an Adolescent
Case Reports in Dermatology, 2015 Eccrine angiomatous hamartoma is a rare hamartoma that usually affects childhood and adolescence. In this report we describe a typical onset and clinical presentation of eccrine angiomatous hamartoma.
Pimpa Tantanasrigul +4 more
doaj +1 more source
Hamartoma-like lesions in the mouse retina: an animal model of Pten hamartoma tumour syndrome
Disease Models & Mechanisms, 2018 PTEN hamartoma tumour syndrome (PHTS) is a heterogeneous group of rare, autosomal dominant disorders associated with PTEN germline mutations. PHTS patients routinely develop hamartomas, which are benign tissue overgrowths comprised of disorganized ...
Nobuhiko Tachibana +10 more
doaj +1 more source
Dermatology Online Journal, 2009 A 29-year-old man presented with a large, asymptomatic, brown, hyperpigmented, depressed plaque over his left upper back, which included the scapular area, since childhood. Histopathological analyses of the biopsy specimens was consistent with a rare entity known as neurovascular hamartoma.
Lee, Arnold +5 more
openaire +4 more sources
Hamartoma of the urinary bladder in a 15-year-old boy
Urology Research and Practice, 2019 Hamartoma of the bladder is an unusual entity described in only eleven patients to date. It may present as painless hematuria, irritative urinary tract symptoms, or inability to void or it may be diagnosed incidentally.
Noora Al Shahwani +3 more
doaj +1 more source
Retroperitoneal hamartoma mimicking angiomyolipoma: a case report and review of literature
Bulletin of the National Research Centre, 2022 Background Hamartoma refers to the excessive focal growth of cells and tissues in organs, which is between malformation and benign tumor. Hamartomas are commonly seen in the lung, but rare in the retroperitoneum.
Lesheng Huang +8 more
doaj +1 more source
Malignancy within a tail gut cyst:a case of retrorectal carcinoid tumour [PDF]
, 2014 Purpose. Tailgut cysts with malignant transformation are rare entities. We discuss the diagnostic strategy and treatment of a malignancy within a tailgut cyst. Methods.
Abukar, A. A. +7 more
core +7 more sources
Facial eccrine angiomatous hamartoma in a 52-year-old woman: A case report
SAGE Open Medical Case Reports, 2023 Eccrine angiomatous hamartoma is a rare, benign condition. Patients typically present with a solitary, sometimes enlarging nodule of the extremities usually appearing at birth or arising during childhood. Eccrine angiomatous hamartoma is usually sporadic,
Shaymaa M Ahmad +2 more
doaj +1 more source
Hepatic mesenchymal hamartoma: The role of radiology in diagnosis and management
Radiology Case Reports, 2021 Hepatic mesenchymal hamartoma is an uncommon tumor composed of myxoid mesenchymal tissue with fluid accumulation. Here, we report a case of hepatic mesenchymal hamartoma in a 3-year-old patient who was referred to the hospital with abdominal pain and a ...
Tran Phan Ninh, MD, PhD +5 more
doaj +1 more source
Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]
, 2013 Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO +6 more
core +2 more sources