Nail-patella syndrome: "nailing" the diagnosis in three generations.

Creator(s)

Nguyen Hoang, Children's Mercy Hospital
Haleigh Harper
Spyros Syscos
Jace Rickstrew
David Kaplan

Document Type

Article

Publication Date

7-15-2020

Identifier

DOI: 10.5070/D3267049557

Abstract

Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a challenging diagnosis. Herein, we describe three family members with nail-patella syndrome who presented with different features and varying severity. The opportunity to recognize this rare syndrome in three linear generations provided a unique insight into NPS, and a moment to appreciate the random and unpredictable clinical presentation.

Journal Title

Dermatology online journal [electronic resource]

Volume

26

Issue

7

MeSH Keywords

Adolescent; Adult; Aged; Family; Female; Humans; Male; Nail-Patella Syndrome; Nails, Malformed; Patella; Patient Acuity

Keywords

Nail-Patella Syndrome; Malformed Nails; Patella; Patient Acuity

Recommended Citation

Hoang, N., Harper, H., Syscos, S., Rickstrew, J., & Kaplan, D. (2020). Nail-patella syndrome: "nailing" the diagnosis in three generations. Dermatology Online Journal, 26(7). http://dx.doi.org/10.5070/D3267049557