Table 1.
|
ISH |
JHF |
Proband |
Case IV-6 |
Case IV-4 |
Papular skin lesions |
+ |
+ |
+ |
+ |
? |
Thickened skin |
+ |
- |
- |
? |
? |
Gingival hyperplasia |
+ |
+ |
+++ |
+ |
? |
Perianal nodules |
+ |
- |
+ |
+ |
? |
Large nodules/tumors |
- |
+ |
+ |
- |
? |
Hyperpigmented plaques |
+ |
- |
+ |
+ |
? |
Joints and bones |
+ |
+ |
+ |
+ |
- |
Joint contractures |
+ |
+ |
+ |
+ |
- |
Osteoporosis/osteopenia |
+ |
+ |
+ |
? |
? |
Persistent diarrhea |
+ |
- |
+ |
++ |
- |
Recurrent infections |
+ |
- |
+ |
+ |
? |
Visceral involvement |
+ |
- |
+ |
- |
? |
Short stature |
+ |
+ |
+ |
+ |
? |
Prolonged survival |
- |
+ |
+ |
- |
-- |