Literature DB >> 31799274

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

Michela Starace1, Ambra Di Altobrando1, Aurora Alessandrini1, Bianca Maria Piraccini1.   

Abstract

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.
Copyright © 2019 by S. Karger AG, Basel.

Entities:  

Keywords:  Nail; Nail pathology; Noninvasive diagnosis

Year:  2019        PMID: 31799274      PMCID: PMC6883439          DOI: 10.1159/000501046

Source DB:  PubMed          Journal:  Skin Appendage Disord        ISSN: 2296-9160


  8 in total

1.  Total knee arthroplasty in a patient with nail-patella syndrome (NPS).

Authors:  Maile E Curbo; Kwan J Park; Landon D Brown; Stephen J Incavo
Journal:  Knee       Date:  2018-11-29       Impact factor: 2.199

Review 2.  Nails: diagnostic clue to genodermatoses.

Authors:  Arun C Inamadar; Aparna Palit
Journal:  Indian J Dermatol Venereol Leprol       Date:  2012 May-Jun       Impact factor: 2.545

3.  Median nail damage in nail-patella syndrome associated with triangular lunulae.

Authors:  I Neri; V Piccolo; R Balestri; B M Piraccini; A Patrizi
Journal:  Br J Dermatol       Date:  2015-10-30       Impact factor: 9.302

Review 4.  Nail-patella syndrome.

Authors:  Ralph Witzgall
Journal:  Pflugers Arch       Date:  2017-07-05       Impact factor: 3.657

5.  Nail-patella syndrome with an emphasis on the risk of renal and ocular findings.

Authors:  Sandeep Kamath; Krishnan Bhagwandas
Journal:  Pediatr Dermatol       Date:  2010 Jan-Feb       Impact factor: 1.588

6.  Mutation analysis of LMX1B gene in nail-patella syndrome patients.

Authors:  I McIntosh; S D Dreyer; M V Clough; J A Dunston; W Eyaid; C M Roig; T Montgomery; S Ala-Mello; I Kaitila; A Winterpacht; B Zabel; M Frydman; W G Cole; C A Francomano; B Lee
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  A rare case of nephrotic syndrome: 'nailed' the diagnosis.

Authors:  S Agarwal; C Divecha; M S Tullu; C T Deshmukh
Journal:  J Postgrad Med       Date:  2014 Apr-Jun       Impact factor: 1.476

Review 8.  Nail-patella syndrome. Overview on clinical and molecular findings.

Authors:  Ernie M H F Bongers; Marie-Claire Gubler; Nine V A M Knoers
Journal:  Pediatr Nephrol       Date:  2002-07-30       Impact factor: 3.714

  8 in total

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