Puretic syndrome

Overview

A rare genetic condition characterized by skin tumors and enlarged gums as well as osteopenia and joint contractures. The condition is caused by the accumulation of hyaline in the skin and other tissues.

Symptoms

* Joint contractures * Stunted growth * Suppurative skin infections * Suppurative eye infections * Suppurative nose infections * Suppurative ear infections * Anemia * Thickened gums * Deformed skull * Deformed face * Subcutaneous nodules - located at joints * Skin tumors * Skin papules * Osteolysis of terminal phalanges

Diagnosis

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Puretic syndrome. This medical information about signs and symptoms for Puretic syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Puretic syndrome signs or Puretic syndrome symptoms. Furthermore, signs and symptoms of Puretic syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Puretic syndrome symptoms.

Prognosis

Prognosis of Puretic syndrome: usually death during infancy or retarded growth