Weekly Case

Title : Case 581

Age / Sex : 27 / M


Chief complaint :


Bilateral knee pain, thumb nail deformity


 


What is your impression?

Two weeks later, you can see the final diagonosis with a brief discussion of this case (Please submit only one answer).

Courtesy : 
Hee-Dong Chae, Seoul National University Hospital


 



Discussion


 


Answer:  


Nail-patella syndrome (hereditary onycho-osteodysplasia, Turner-Keiser syndrome, Fong disease)


 


Findings:


Aplasia of bilateral patellae


Dysplasia of the capitellum and radial head with radial head subluxation, more pronounced in the right elbow


 


Differential Diagnosis:


Small patella syndrome, Trisomy 8, Coffin-Siris syndrome, Kuskokwin syndrome


 


Discussion:


Nail-patella syndrome (NPS) is a rare hereditary disorder known by many other names, including hereditary onycho-osteodysplasia (HOOD), Turner-Keiser syndrome, and Fong disease. It is characterized by a classic tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns.


Nail changes are the most constant feature of NPS, with the thumbs most severely affected. Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into two halves by a longitudinal cleft. Patellar abnormalities are present in >90% of cases and include aplasia or, more frequently, patellar hypoplasia. Elbow abnormalities may include dysplasia of radial heads, lateral epicondyles, and capitula with recurrent displacement of the radial heads. Iliac horns, which are pathognomonic for NPS, are bilateral, conical, osseous excrescences that project posterolaterally from the posterior ilia.


Besides physical manifestations, there is also an association with open-angle glaucoma and progressive nephropathy. Clinical manifestations are most frequently seen in the second and third decades of life. There is no cure for NPS, and treatment is directed towards addressing the various orthopedic and nonorthopedic manifestations of the disorder.


 


References:



  1. West JA, Louis TH, editors. Radiographic findings in the nail-patella syndrome. Baylor University Medical Center Proceedings; 2015: Taylor & Francis.

  2. Tuncbilek N, Karakas H, Okten O. Imaging of nail-patella syndrome. Hong Kong Med J. 2005;11(2):116-8.



Correct Answer
Total applicants 38 Correct answers 36
Name Institution
김기욱 국군대전병원, 전문의
이영선 전문의
윤유성 삼성서울병원, 전문의
서현주 전문의
장성원 중앙보훈병원, 전공의
이은채 전문의
석지현 전문의
석지현 전문의
임재정 서울성모병원, 전문의
한유비 전문의
이지현 삼성서울병원, 전문의
김창현 전문의
권소이 전문의
강건우 전문의
김동환 서울아산병원, 전문의
김현영 분당서울대학교병원, 전문의
손상욱 군의관, 전문의
김민철 군복무, 전문의
이성욱 단국대병원, 전공의
강지희 서울대학교병원, 전공의
강지희 서울대학교병원, 전공의
김형민 전문의
서지원 전문의
김보람 전문의
이혜란 전문의
박준동 뿌리병원, 전문의
장용석 고려대학교 구로병원, 전문의
전인환 전문의
이승민 전문의
김태형 전문의
송윤아 전문의
최희석 전병원, 전문의
백승진 분당차병원, 전공의
안태란 전문의


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