Results 101 to 110 of about 54,369 (243)
JOINT CHANGES IN NEUROFIBROMATOSIS
, 1952 1 . Two patients with monomelic bone and joint changes in neurofibromatosis have been described. 2. The joint changes in neurofibromatosis include dysplasias, sclerosis of the articulating bone ends and secondary osteoarthritis.
A. C. Bingold
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Sclerosing segmental neurofibromatosis.
, 2005 Segmental neurofibromatosis is a rare disorder characterized by cafe-au-lait macules and/or neurofibromas limited to a single body segment. The neurofibromas in segmental neurofibromatosis are usually soft, non-tender nodules as in other types of ...
Kim, YC, Lee, JS
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, 1990 The diagnostic criteria, associated problems, genetics, pathogenesis, clinical evaluation and treatment of neurofibromatosis type I in childhood are reviewed from the Department of Pediatrics, Northwestern University Medical School and Children's ...
J Gordon Millichap
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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
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
American Journal of Roentgenology, 1966 W T, Meszaros, F, Guzzo, H, Schorsch
openaire +2 more sources
A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome
, 2014 Neurofibromatosis (NF) Type 1 (NF-1) is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other ...
Ersen Karakılıç +7 more
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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
, 2016 Barmak Abdolrahimzadeh,1 Domenica Carmen Piraino,2 Giorgio Albanese,2 Filippo Cruciani,2 Siavash Rahimi3 1Polimed Beltramelli Medical Center, Rome, Italy; 2Section of Ophthalmology, Department of Sense Organs, University of Rome “Sapienza&rdquo ...
Rahimi S +4 more
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