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

-

+

+

-

--