Results 121 to 130 of about 34,784,083 (239)
Hypopituitarism Associated with Neurofibromatosis Type 1: Report of One Case
, 2009 Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder with a wide range of clinical manifestations. Hydrocephalus unrelated to brain tumors is rare in neurofibromatosis type 1.
王崇怡;楊千立;朱麗雯;蔡文友 +1 more
core
Oral Oncology ReportsNeurofibromatosis type 1 (NF-1) is an autosomal dominant inherited genodermatosis disease and tumor susceptibility syndrome with a prevalence of 1/6000–1/3000 reported in most epidemiological studies and 1/3333–1/2558 in live births.
Lini Deng +3 more
doaj +1 more source
A large multilobulated cutaneous nodule in infancy
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Hannah Wahida +2 more
wiley +1 more source
Loose Anagen Hair Syndrome: A Scoping Review
Pediatric Dermatology, EarlyView.ABSTRACT Loose anagen hair syndrome (LAHS) is a rare, non‐scarring alopecia that may occur sporadically or follow autosomal dominant inheritance. The objective of this study was to review the etiology, clinical presentation, diagnostic features (including trichoscopy, trichogram, and microscopy), natural history, and treatment outcomes of LAHS.
Romy Shenderey +12 more
wiley +1 more source
Multiple Bilateral Choroidal Nevi in Case of Neurofibromatosis Type 1
, 2021 Neurofibromatosis type 1 is a disease with many clinical manifestations, some of which are seen in the eyes. Multiple choroidal nevi are rarely reported in association with neurofibromatosis-I (NF1).
Ryan Harpole; Logan Dehoff; Ramiro Maldonado; Padmaja Sudhakar
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American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2454-2463, November 2026.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
We present the case of successful endovascular abdominal aortic aneurysm repair (EVAR) in a 55-year-old male who presented with a ruptured infrarenal aortic pseudoaneurysm, formed after spontaneous avulsion of the inferior mesenteric artery. The avulsion
Nikolaos Krinos +16 more
core +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2443-2453, November 2026.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Malignancy in Neurofibromatosis Type 1
The Oncologist, 2000 Abstract Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed ...
openaire +2 more sources