Results 51 to 60 of about 1,567,257 (239)

Piebaldism with Neurofibromatosis Type I: A Familial Case [PDF]

Annals of Dermatology, 2014
Dear Editor: Piebaldism is characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to a mutation of the c-kit proto-oncogene, which affects melanoblast differentiation and migration1. This mutation is inherited as an autosomal dominant trait. Clinically, piebaldism is characterized by stable, persistent, and
Park, Sang-Yeon, Kim, Hyun Jung, Ahn, Sung Ku   +2 more
openaire   +2 more sources

Plexiform neurofibroma with neurofibromatosis type I/ von Recklinghausen's disease: A rare case report

Annals of Medicine and Surgery, 2020
Introduction Plexiform neurofibroma with neurofibromatosis type 1 (NF1) or Von Recklinghausen's disease is a rare entity and occurs in approximately 5–15% patients. These are slow growing, painless and locally infiltrating tumors.
Pooja Poswal, Namita Bhutani, S. Arora, Raj Kumar   +3 more
semanticscholar   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
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, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Glomus Tumors and Neurofibromatosis: A Newly Recognized Association

Plastic and Reconstructive Surgery, Global Open, 2014
Background: Glomus tumors are painful benign tumors arising from the neuromyoarterial elements of the glomus body, typically in a subungual location. Historically, glomus tumors have been considered isolated or sporadic, not typically associated with ...
Bridget Harrison, MD, Douglas Sammer, MD
doaj   +1 more source

Pulmonary Hypertension in Patients With Neurofibromatosis Type I

Medicine, 2011
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which codes for tumor suppressor neurofibromin. NF1 is transmitted as an autosomal dominant and fully penetrant trait with no sex predominance. Precapillary pulmonary hypertension (PH) is a severe complication of NF1, initially described in patients with ...
David, Montani, Florence, Coulet, Barbara, Girerd, Mélanie, Eyries, Emmanuel, Bergot, Hervé, Mal, Giuseppina, Biondi, Claire, Dromer, Thomas, Hugues, Charles, Marquette, Caroline, O'Connell, Dermot S, O'Callaghan, Laurent, Savale, Xavier, Jaïs, Peter, Dorfmüller, Hugues, Begueret, Laurent, Bertoletti, Olivier, Sitbon, Christine, Bellanné-Chantelot, Gérard, Zalcman, Gérald, Simonneau, Marc, Humbert, Florent, Soubrier   +22 more
openaire   +2 more sources

Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I

Frontiers in Genetics, 2019
Citation: Anastasaki C, Gao F and Gutmann DH (2019) Commentary: Identification of Mutation Regions on NF1 Responsible for Highand Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. Front. Genet. 10:115.
C. Anastasaki, Feng Gao, D. Gutmann
semanticscholar   +1 more source

Surgical treatment of scoliosis in neurofibromatosis type I: A retrospective study on posterior-only correction with third-generation instrumentation

Journal of Craniovertebral Junction and Spine, 2020
Background: Scoliosis is the most common orthopedic complication of neurofibromatosis type I. Scoliosis can be occurred with two patterns: dystrophic or idiopathic-like. In adolescence, in consideration of bone dystrophy, osteopenia, and often associated
P. Cinnella, S. Amico, A. Rava, M. Cravino, G. Gargiulo, M. Girardo   +5 more
semanticscholar   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
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, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

Oral manifestations in neurofibromatosis type I: A case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to
Ashwinirani Suragimath, Shobha Channabasappa Bijjargi, Abhijeet R Sande, Veerendra S Patil   +3 more
doaj   +1 more source

Congenital abnormalities of the retinal vasculature in neurofibromatosis type I

Scientific Reports, 2020
The aim of this cross-sectional study was to investigate congenital abnormalities of the retinal vasculature (CARVs) in patients with neurofibromatosis type I (NF-1). Forty-eight patients (96 eyes) with NF-1 diagnosed according to the National Institutes
B. Chun, Jung Hyun Yoon, Byeong Jae Son, Su-Kyeong Hwang, H. Lim   +4 more
semanticscholar   +1 more source