Type I Dentin Dysplasia: The Literature Review and Case Report of a Family Affected by Misrecognition and Late Diagnosis

Abstract

Background and Objectives: Type I dentin dysplasia (DD-I) is a rare genetic disorder with autosomal dominant or recessive inheritance at risk of late or long-misunderstood diagnosis because the teeth, compared to other degenerative dentin diseases, do not have coronal defects and/or alterations but only at the root level (absent, conical, pointed roots, and obliterated pulp canals). The first radiographic suspicion often occurs only in case of sudden mobility and/or abscesses of the permanent teeth. Genetic tests confirm the diagnosis. Case Presentation: This case report describes the oral and radiographic characteristics of two siblings, 12 and 10 years old, a male and a female, at an early age affected by DD-I, whose diagnosis was made for a first orthodontic visit. The father and the older child had already undergone dental and orthodontic treatments, respectively, without the disease being suspected by the dentist. Results: Genetic tests support the diagnosis of DD-I. Following the diagnosis, the patients began a process of close periodic checks every 3–4 months to monitor their situation. The male child lost upper lateral incisors, which were then replaced with a light nylon removable prosthesis. Conclusions: The ability to recognize the radiographic features characteristic of DD-I is very important to avoid prejudicial diagnostic delays and to be able to plan the long-term treatment of these patients better, especially when the pathology was primarily misrecognized in the family.

Case Report of a 4-Year-Old Girl with Stage IV Grade C Localized Periodontitis (Pre-Puberal Localized Aggressive Periodontitis) Affected by Misrecognition and Late Diagnosis

“…This unusual case of Stage IV grade C localized periodontitis/LPP demonstrates how a case can go misrecognized and undiagnosed for a long period of time, with severe consequences for the patient and their family if radiological and clinical signs are missed (despite the large window of opportunity within which to take a therapeutic approach [ 5 , 6 , 9 , 10 , 16 , 17 , 18 , 19 , 22 ]). Since LPP is a rapidly progressing disorder, lack of treatment for a few months (i.e., four to five months, as reported here) could lead to periodontal support and temporary tooth loss, with further consequences (i.e., orthodontic and periodontic) [ 1 , 2 , 5 , 10 ].…”

“…The case herein proves the importance of paying attention to little children’s complaints of pain and investigating them if they are frequent [ 22 ]. A simple digital panoramic or retro-alveolar radiographical examination (i.e., without any risks for patients’ health) would produce further data which would help to identify any potential problem [ 22 ].…”

“…Diagnostic errors are a known problem in clinical practice, but there are few data available regarding this issue [ 22 ]. Thus, the case report herein focused on reporting a problem, and on providing medical education showing and arguing the medical reasoning and clinical evidence for avoiding further similar problems.…”

Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly

“…A different orthodontic approach, for children of the same age, entails the use of a quad-helix to obtain an early expansion followed by a second step of expansion with the same appliance after eruption of the permanent dentition is complete, combined with the backwards movement of the posterior teeth and opening space with fixed multibracket therapy for the missing central incisor (prosthetically added) [31]. Ruling out or confirming the presence of syndromic or non-syndromic dental abnormalities to determine the best direction for early orthodontic approaches will improve the developmental prognosis of the young patient if correctly diagnosed and fully understood [37,38]. Recent experiences support the advantage of using orthodontic devices with newborn patients affected by syndromic or non-syndromic abnormalities involving oral structures [39,40].…”