Background: Infantile Systemic Hyalinosis (ISH) (which also known as Inherited Systemic Hyalinosis) is an uncommon, progressive and fatal genetic disorder that usually affects the newborn or infants. It is an autosomal recessive syndrome of unknown etiology, caused by mutations in the anthrax toxin receptor 2 gene - ANTXR2. It is characterized by hyaline deposits in the papillary dermis and other tissues
Case Report: The phenotype characteristics of infantile systemic hyalinosis (ISH) in a two-year-old boy were present. The characteristics of flattered occiput, limited limb movements and articular abnormalities of elbows and knees. Dental findings showed excessive gingival hypertrophy multiple nodules in mucosa completely covering maxillary and mandibular teeth Plan Of Treatment: The gingival hypertrophy was planned for surgically treated by gingivectomy and excision of nodules under general anesthesia.
Follow-Up: The patient showed a full constellation of clinical manifestations of the disease. although the surgical intervention was not able to be performed due to the unstable medical condition, oral hygiene improvement was maintained.
Conclusions: Surgical treatment of the gingival hypertrophy is the treatment of choice so the patient can perform normal feeding.