PMC3986738_01
PMC3986738_02
PMC3986738_03
A) Hirsutism on the elbows and back, a hairy nevus over the pinna, premature breast enlargement
B) Hyperpigmented shiny skin, excessive skinfolds (telescoping) near the little finger; osteolysis, swelling and widening of the wrist
C) X-ray of the hand and wrist showing resorption of distal phalanges and loss of bone mineralization in the phalangeal and carpal bones. There is cortical thinning and expansion of metacarpal bones. Similar changes are visible at the wrist involving the distal ends of the radius and ulna
D) X-ray of the pelvis showing a lesser degree of osteopenia
JCRPE-6-40-g3.jpg
PMC3986738_03_JCRPE-6-40-g3.jpg
f1
Both elbow joints and the third and fourth fingers on the right side had subcutaneous nodules on the dorsum (Figure 1).
PMC3986738_04
Restriction fragment length polymorphism with Btgz1 (from left to right). Lane 1: DNA marker 50 basepair; Lane 2: Proband; Lane 3, 4: Parents; Lane 5: Unaffected sibling; Lane 6: Blank; Lane 7: Undigested products. The Btgz1 does not cut the homozygous mutated allele (propositus). The parents are heterozygous for one mutant (undigested) and two bands representing wild type allele. The sibling had homozygous wild type allele
JCRPE-6-40-g4.jpg
PMC3986738_04_JCRPE-6-40-g4.jpg
f2
The heterozygous state shower three bands of 255bp, 174bp, 81bp and the mutated homozygous state did not cut and had one band at 255bp (Figure 2).