Oral alterations in patients with cystinosis

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder, which leads to abnormal accumulation of cysteine in various organs, including progressive dysfunction of kidneys. The most severe and frequent form, affecting ∼95% of patients, is termed infantile nephropathic cystinosis (NC) (OMIM 219800). We have reported oral findings in two patients with NC and described esthetic and functional rehabilitation in one of them. The first case describes a 16‐year‐old male patient, who was diagnosed with NC when he was 1‐year‐old. The patient exhibited generalized enamel hypoplasia, grade 1 drug‐induced gingival overgrowth, caries lesion in molar tooth and supernumerary tooth (ie, distomolar). The second case describes a 14‐year‐old male patient diagnosed with NC at 3 years old. Clinical examination revealed generalized enamel hypoplasia and grade 1 drug‐induced gingival overgrowth. Radiographic examination showed supernumerary tooth (mesiodens). The treatment included gingivoplasty and restoration with direct composite resin. The severity of hypoplasia highlights the importance of a dental rehabilitation treatment, as proposed here. Direct restoration with composite resin allowed harmony, function, and esthetics to be restored, in addition to being a rapid and low‐cost technique.