Primary palpebral and orbital ossification in pseudo-pseudohypoparathyroidism.

PURPOSE: To present a case of ossification of the eyelid, episclera and orbit in a patient with pseudo-pseudohypoparathyroidism (pPHP).

METHODS

A 20-year-old woman diagnosed with pseudo-pseudohypoparathyroidism underwent clinical and histopathological examination of calcified plaques of the right eyelid and orbit. The patient presented with a round face, tousled short hair and retarded speech. She had been diagnosed with pPHP at 3 years of age. During her first decade, calcified plaques developed in the right eyelid and orbit. Gradually, she developed horizontal diplopia, pseudo-ptosis and periorbital pain. Vertical eye movements were reduced to 10 mm, although levator function remained intact. Computer tomography scans of the orbit showed three separate dense structures. Radiographic findings also showed bilateral shortening of the fourth metacarpus and a calcified subcutaneous plaque in the left thigh. The patient's blood status revealed an elevated level of thyroid stimulating hormone, but was otherwise normal. The patient was treated with eltroxin and shortly afterwards regained normal hair and normal speech function.

RESULTS

The calcified structures were removed surgically and almost normal eye movements were re-established. Histological examination of the excised tissue demonstrated bone formation.

CONCLUSION

This is the first reported case of ossification of the eyelid and orbit in a patient with pseudo-pseudohypoparathyroidism.