Nail diseases are rarely given significant importance in general consultation and their specific examination is often neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder. Although rarely, nail alterations could be a sign of a systemic disorder, in which a prompt observation is crucial for an early diagnosis. We describe the case of an elderly woman with a long history of nail dystrophy, previously labelled as nail fragility. On enquiry, similar nail changes were discovered to have affected the patient's son, who was visited the following week. Diagnosis of the Nail-Patella Syndrome (NPS) was suspected on the basis of nail alterations in both patients and confirmed by complementary radiographic examination. Screening for severe renal complications, which could have negatively affected the prognosis and have led to end-stage renal disease, followed. The prompt diagnosis of NPS and the associated diseases are mandatory for a correct management of these patients.
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http://dx.doi.org/10.1159/000501046 | DOI Listing |
J Obstet Gynaecol Res
January 2025
Department of Maternal Fetal Medicine, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Pain and Palliative Care, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, Paris, France.
Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. Although chronic pain in NPS is mainly due to bone and musculoskeletal symptoms, it can also result from neurological dysfunction. Conventional analgesics are often insufficient to relieve NPS-associated chronic pain.
View Article and Find Full Text PDFRadiol Case Rep
October 2024
Department of Radiology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows. We present a case of a 56-year-old female presenting with bilateral knee pain, where initial radiographic findings of hypoplastic patellae prompted further investigation, revealing characteristic skeletal anomalies consistent with NPS. This case underscores the importance of recognizing radiological clues and conducting thorough clinical evaluation to diagnose rare genetic conditions such as NPS.
View Article and Find Full Text PDFHSS J
August 2024
Department of Pediatric Orthopedics, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Pediatr Int
July 2024
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
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