This disorder has only been reported in one family
Four members, a father and three children, had glaucoma, intraocular inflammation, and cataracts. Non-tender, brownish lumps appeared in the skin between the ages of 4 and 15 years together with painful joints that led to severe deformations in the hands, feet and elbows. The skin lesions were found primarily in the hands, ear lobes, and the arms. In addition the skin in the legs became thickened.
The family pattern suggests autosomal dominant inheritance but no mutation has been identified.
The diagnosis is made by the combination of the skin, joint and eye findings. Dermatologists and ophthalmologists together could make the diagnosis. The glaucoma should be treated by an ophthalmologist and orthopedic surgery can correct the joint deformities.