Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome [PDF]
American Journal of Ophthalmology Case Reports, 2020 Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin +4 more
doaj +2 more sources
Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report [PDF]
Bone Reports, 2019 We report a 48-year-old Japanese man with a brown tumor of the right distal tibia. At the age of 25 years, hemodialysis was initiated due to nail-patella syndrome.
Naoya Toriu +17 more
doaj +2 more sources
A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]
BMC Medical Genetics, 2019 Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan +6 more
doaj +2 more sources
The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]
BMC Musculoskeletal Disorders/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto +10 more
doaj +2 more sources
Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains [PDF]
Nature CommunicationsMutations in the transcription factor LMX1B have been identified as the cause of the autosomal-dominant disease nail-patella syndrome. It manifests in small or absent patellae and dysplastic or missing toe- and fingernails, but the prognosis of the ...
Joshua Hermens +11 more
doaj +2 more sources
Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]
Scientific ReportsNail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret +4 more
doaj +2 more sources
Nail-Patella Syndrome: A Classic Case [PDF]
Dermatology Practical & Conceptual, 2019 Sarita Sanke +3 more
doaj +2 more sources
Indian J Med Res, 2018 Nail patella syndrome can be recognized by its characteristic nail dystrophy and symmetrical skeletal abnormalities. Proteinuric renal disease is a variable part of the syndrome, usually mild but causing end-stage renal failure in up to 10%.
Kundu ZS, Siwach RC.
europepmc +2 more sources
Nail-patella syndrome: "nailing" the diagnosis in three generations [PDF]
, 2020 Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns.
Harper, Haleigh +4 more
core +3 more sources
Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]
Anais Brasileiros de Dermatologia, 2017 : The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes +1 more
doaj +1 more source