A 21-year-old male patient presented with a chief complaint of small upper and lower permanent teeth. According to the history reported by the patient, the size of his teeth never changed with age. No contributing family or medical history was identified. The patient did not report any abnormal oral habits. The findings of his general physical examination were normal.\nAn intraoral soft tissue examination showed the presence of brown pigmented gingiva with a normal contour (). A hard tissue examination revealed retained deciduous teeth and permanent teeth with atypical findings, as well as multiple decayed teeth (). Many of the permanent teeth were missing, and the erupted teeth were widely spaced, with a yellowish brown discoloration (). The enamel layer was absent clinically and post-eruption wearing of the teeth was evident (). The upper central incisors exhibited a semi-lunar shape and the molars had flat occlusal surfaces (). Severe attrition resulted in a collapsed bite and reduced vertical dimensions during occlusion ().\nThe panoramic radiography and cone-beam computed tomography (CBCT) images revealed multiple findings. All of the teeth were affected, especially the posterior teeth (). Multiple calcification nodules were seen in the pulp chambers of the primary and permanent teeth; these nodules were needle-shaped in the incisors and round in the posterior teeth (). The differential radiodensity expected between the dentine and the enamel was absent (). Pericoronal radiolucencies delineated by sclerotic margins around non-erupted teeth were significant (). The impacted teeth presented with complete root formation, exhibiting dilacerations and curvature (). The dental follicles around the unerupted teeth appeared to be hyperplastic (). Extensive crown resorption with partial replacement of the resorbed dentin by globular calcified structures was observed ().\nThe impacted permanent canines, second molars, and third molars were observed to have fully formed roots (). An accessory mental foramen was seen on the right side of the mandible and extensive bone loss was observed around the mesiobuccal root of the left maxillary first molar in the volume-rendered CBCT images (). A provisional diagnosis of amelogenesis imperfecta was made based on the clinical and radiographic findings. The histopathological examination of an extracted deciduous canine using light microscopy confirmed the absence of enamel and the absence of scalloping of the dentinoenamel junction. (). Hence, based on the Witkop classification, the final diagnosis was the enamel agenesis (type 1G) subtype of hypoplastic-type amelogenesis imperfecta, which is an autosomal recessive disorder. The histopathological analysis of specimens obtained during treatment also confirmed the presence of calcified pulpal tissue () and dense collagen bundles with abundant vasculature in the gingival tissue ().\nAs this type of amelogenesis imperfecta can be associated with other organ and metabolic abnormalities, further investigations were carried out. An ultrasound examination of his kidneys demonstrated multiple hyperechoic foci in the medulla of both the kidneys, suggesting bilateral nephrolithiasis (). A 24-hour urine spectrophotometric analysis revealed very low citrate levels (18.9 mg/24 hours; reference range, 116-924 mg/24 hours). Other biochemical and haematological findings were normal (alkaline phosphatase, 128 U/L; urea, 12.84 mg/dL, blood urea nitrogen, 6 mg/dL; creatinine, 1.33 mg/dL, blood urea nitrogen to creatinine ratio, 4.51; estimated glomerular filtration rate, >60 mL/min/1.73 m; sodium, 136 mmol/L, potassium, 4.0 mmol/L; chloride, 98 mmol/L; bicarbonate, 19 mmol/L; calcium, 9.4 mg/dL; vitamin D3, 34.63 ng/mL; urine albumin, 32.1 mg/L). A physical, microscopic, and chemical examination of a urine sample did not reveal any abnormalities (urine creatinine, 17.51 mg/dL; urine albumin-creatinine ratio, 183.32 mg/g; 24 hours calculated citrate in urine, 18.9 mg/24 hours; urine oxalate, 14.27 mg/24 hours, urinary calcium, 98.7 mg/24 hours; parathyroid hormone, 19.70 pg/mL).\nThus, based on previous findings, the diagnosis was modified to enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia.
An 11-year-old girl reported to the Department of Pedodontics and Preventive Dentistry, Dr. D.Y. Patil Dental College and Hospital, Pune, with the chief complaint of discolored teeth since childhood.\nThis little girl's parents did not seek any treatment previously, thinking that since the condition was not resulting in any other systemic manifestations and since she had inherited the condition from her father, there was little they could really do about it and accepted it as part of her appearance. It was only now, when they realized that the girl avoided hard food substances, they got her to a dentist.\nOn enquiry, it was revealed that her deciduous teeth were also similarly discolored, and her father, younger brother of eight years, and younger sister of six years, also suffered from the same condition. The pedigree chart could be constructed as in .\nApart from this, her past medical history was noncontributory. The history did not reveal any eruption disturbances. From a functional point of view, she had been avoiding hard food substances; at the same time, remaining caries free, except for a sole proximal carious lesion in 36, involving the enamel and dentin.\nOn intraoral examination, it was found that she had a normal complement of teeth. The thickness of enamel was reduced on the teeth and was completely chipped off from some teeth exposing the dentin. The surfaces of the teeth were rough. The teeth, in general, exhibited a yellowish brown discoloration, with diffuse pitting present on the exposed tooth surfaces, more prominent on the labial and buccal aspects. The emergence pattern and timing of teeth seemed to be within the normal range. No open bite was present. Examination of the periodontium revealed the presence of chronic, generalized, marginal, and papillary gingivitis, with calculus deposition and unsatisfactory oral hygiene [Figures –].\nA provisional diagnosis of hypoplastic, rough autosomal dominant AI was proposed along with a differential diagnosis of environmental enamel hypoplasia, dentinogenesis imperfecta, dentin dysplasia, regional odontodysplasia, and the tricho-dento-osseous syndrome.\nRadiographic investigations included an orthopantomogram (OPG) and full mouth intraoral periapical (IOPA) radiographs. The OPG showed the presence of all unerupted third molars, as well as a seemingly normal pattern and timing of eruption of teeth []. Examination of the IOPA radiographs revealed a normal pulp chamber and root canal spaces with no signs of obliteration. The enamel was almost half its expected thickness, but was more radiodense than the dentin.\nThe ground section of an over-retained deciduous molar extracted from the girl showed that the enamel was thin and was composed of laminations of irregularly arranged enamel prisms. No abnormality was apparent in the dentin []. shows a ground section of a normal tooth, where regularly arranged enamel prisms along with the normal thickness of enamel can be appreciated [].\nThe diagnosis of hypoplastic, rough, autosomal dominant AI was confirmed on the basis of typical, clinical, radiographic, and histopathological features.\nEsthetics along with functional limitations were the reason the patient's parents brought her to the hospital for treatment. The treatment proposed for her ranged from bonded veneer restorations to tooth preparations for the placement of a full crown. Restoration of the carious lesion in 36 would be accompanied by a full coverage restoration. The coronal pulp in these children tends to recede faster than in normal teeth and hence crown preparations for full coverage crowns can often be done for relatively young patients.\nAttrition of teeth is a major problem in cases of AI. Therefore, the use of stainless steel crowns as a preventive measure is advocated. Hand scaling was advocated and oral hygiene instructions were given to the patient. Regular brushing of the teeth using the modified Bass technique was taught to the patient to be practiced twice a day (morning and at night before going to bed) using a soft toothbrush and a fluoridated toothpaste (containing 1000 ppm of available fluoride) followed by rinsing with 2% w/v of chlorhexidine gluconate for 15 days.