A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement.

Skin Appendage Disord

Department of Experimental, Diagnostic and Specialty Medicine, Division of Dermatology, University of Bologna, Bologna, Italy.

Published: November 2019

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC6883439PMC
http://dx.doi.org/10.1159/000501046DOI Listing

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