Oral manifestations of cystinosis

Nazif, M M; Osman, M.

doi:10.1016/0030-4220(73)90071-6

Cited by 4 publications

(3 citation statements)

References 8 publications

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“…Some studies have also reported dental abnormalities, such as taurodontism, absence of lamina dura, enlarged pulp, delayed dental development and enamel defects, mostly in children with chronic renal failure [15,17,18]. In this case, the patient presents enamel hypoplasia but no taurodontism nor pulp calcification.…”

Section: Discussionmentioning

confidence: 79%

Dental implant placement in a patient with cystinosis. A case report

Bretaudeau

Paredes

Sergheraert

et al. 2018

J Oral Med Oral Surg

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Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of intracellular cystine cristals, that causes tissular and multi-organic lesions (kidney, eyes, endocrine glands). Observation: We report a rare case of a patient affected by infantile nephropathic cystinosis, who consulted for an implant placement in a single-tooth gap. Discussion: Accumulation of cystine leads to tissue damage, primarily in the kidney, the liver and the cornea, but other organs, such as the mouth, teeth and jaws may be also involved. The article aimed to present oral manifestations associated with this storage disease and to discuss how oral surgeon can evaluate and manage these patients despite the lack of a standardized protocol.

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Section: Discussionmentioning

confidence: 79%

Dental implant placement in a patient with cystinosis. A case report

Bretaudeau

Paredes

Sergheraert

et al. 2018

J Oral Med Oral Surg

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“…Oral alterations in individuals with NC may be associated with the presence of comorbidities. Enamel hypoplasia, taurodontism, delayed tooth eruption, delayed tooth development, reduced airway space, soft tissue changes, tooth agenesis, and difficulty swallowing have already been described in patients with NC (Table ) . Without appropriate treatment, children with cystinosis can develop kidney failure.…”

Section: Introductionmentioning

confidence: 98%

Oral alterations in patients with cystinosis

Tuma

Ordóñez-Aguilera

Rodriguez

et al. 2019

Special Care in Dentistry

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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.

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“…The dental and craniofacial clinical features of cystinosis remain poorly defined. Nazif and Mazloum's 1973 report on the oral manifestations of three cystinosis cases suggested that, in cystinosis, dental changes include ill-defined mucosal and tongue lesions, retardation of dental calcification age, delayed eruption of dentition, and enlarged pulp chambers (Nazif and Osman, 1973). To date, however, a systematic assessment of craniofacial, oral, and dental features has not been conducted among cystinosis patients.…”

Section: Introductionmentioning

confidence: 99%