Odontohypophosphatasia Diagnosed through Isolated Dental Findings: A Longitudinal Case Report

Hypophosphatasia (HPP) is a rare inherited metabolic disorder of low prevalence, characterized by low activity of tissue-nonspecific alkaline phosphatase (TNSALP), causing defective mineralization of teeth and bone. Odontohypophosphatasia (odonto-HPP) is the mildest form of hypophosphatasia, with manifestations limited to dental features, such as premature loss of primary teeth.

This case report presents a 3-year-old female patient who was diagnosed with odonto-HPP. There was a history of premature exfoliation of the lower primary central incisors shortly after eruption, without any accompaniment of pain or bleeding. She was referred at the hospital on a clinical suspicion of hypophosphatasia for further evaluation. The diagnosis of odonto-HPP was confirmed following bone densitometry and genetic analysis, which revealed a subtle mutation of the ALPL gene. Clinical assessment revealed normal body growth without systemic defects. Mandibular anterior region showed bone resorption and gingival recession, whereas the overall eruption pattern of teeth was normal. Treatment included vitamin D supplementation and dietary counseling. The patient is currently receiving follow-up every two years.

The case, as the second reported case of HPP on Lesvos Island, highlights the importance of recognizing early dental manifestations of the condition and the critical role of the dentist in the recognition and referral of such cases. Early diagnosis promotes effective surveillance and avoids unwarranted intervention.