NAIL–PATELLA SYNDROME (HEREDITARY OSTEO-ONYCHODYSPLASIA)

Question 1

What are the classic tetrad of anomalies in Nail-Patella Syndrome?

Answer 1

1. nails
2. elbows
3. knees
4. iliac horns

Question 2

What are the 2 essential features for the diagnosis of NPS?

Answer 2

1. Nail dysplasia
2. Patellar aplasia/hypoplasia

Question 3

What is a is a pathognomonic sign for NPS?

Answer 3

TRIANGULAR NAIL LUNULAE

Question 4

What are the EM findings in NPS?

Answer 4

thickened basement membrane that contains irregular lucencies, imparting a “moth-eaten” appearance

Question 5

What is the mutation in NPS?

Answer 5

LIM homeodomain protein LMX1B gene