Ectodermal dysplasia (ED) refers to a rare genetic disease chiefly affecting the ectodermal tissue derivatives. Hypohidrotic and hidrotic ED (HED) are the major clinically delineated forms of ED. Hypohidrotic form is the commonly occurring type. The condition manifests as a triad of hypotrichosis, hypohidrosis, and hypodontia, and generally exhibits an X-linked trait. Very rarely, it manifests as an autosomal recessive inheritance pattern. Multidisciplinary treatment protocol necessitates teamwork by medical professionals along with dentists. Dental management at the initial stage can ameliorate the patient's esthetics, thus, abating the allied emotional and mental health issues in such patients. The purpose of this manuscript is to report an extremely rare case of ED in a young female patient who reported to us with a complaint of multiple missing teeth and spacing in teeth. The patient manifested salient features of HED after thorough history taking and a detailed physical examination. Our case was an unusual occurrence where the proband exhibited an autosomal recessive inheritance pattern.
Oral malignant and potentially malignant conditions affect several people worldwide each year. The early diagnoses of these conditions play an important role in prevention and recovery. Vibrational spectroscopy techniques such as Raman spectroscopy (RS) and Fourier-transform infrared (FTIR) spectroscopy are used in the early, non-invasive, label-free diagnosis of malignant and pre-malignant conditions, and are areas of active research. However, there is no conclusive evidence suggesting the translatability of these methods into clinical practice. This systematic review and meta-analysis presents pooled evidence for RS and FTIR methods in the detection of malignant and potentially malignant conditions of the oral cavity. Electronic databases were searched for published literature on RS and FTIR in the diagnosis of oral malignant and potentially malignant conditions. The pooled sensitivity, specificity, diagnostic accuracy, positive likelihood ratio (PLR), negative likelihood ratio (NLR), diagnostic odds ratio (DOR), pre-test, and post-test probability were then calculated using the random-effects model. A subgroup analysis was conducted separately for RS and FTIR methods. A total of 12 studies were included (8 of RS; 4 of FTIR) as per the eligibility criteria. The pooled sensitivity and specificity of the vibrational spectroscopy methods were calculated to be 0.99 (95% confidence interval [CI]: 0.90, 1.00) and 0.94 (95% CI: 0.85, 0.98), respectively. The area under the curve (AUC) for the summary receiving operator characteristic curve was found to be 0.99 (0.98–1.00). Therefore, the results obtained in this study suggest that the RS and FTIR methods offer great potential to be used in the early diagnosis of oral malignant and pre-malignant conditions.
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