Oral Expression of Hypophosphatasia: Case Report and Clinical Management

Auteurs: Rania Othmani, Mariem Nefzaoui, Hela Mhiri, Manel Chalbi, Imen Jazi, Jihene Zaroui, Mohamed Ali Chamli.

Abstract: 

Introduction: Hypophosphatasia (HPP) is a rare genetic disease of bone metabolism linked to a non-tissue specific alkaline phosphatase deficiency. It causes an alteration of bone and dental mineralization. Oral and dental manifestations can constitute an early revealing sign, particularly in children, and need a specific and multidisciplinary dental care.
Observation : We report the case of a 10-year-old female patient referred to the Pediatric Dentistry Clinic of Monastir for pain in the maxillary left first permanent molar (#26). Clinical examination revealed short stature, intermittent bone pain, and delayed motor development. Oral findings included premature exfoliation of primary teeth without physiological root resorption, generalized enamel hypoplasia, increased tooth mobility, and carious lesions. The association of systemic and dental findings strongly supported the suspicion of hypophosphatasia. The radiological examination revealed bone and dental hypomineralization. The diagnosis of HPP was confirmed by laboratory tests showing a marked drop in serum alkaline phosphatase level, in line with the general clinical context.
Discussion : Premature loss of fully rooted primary teeth is pathognomonic and dental manifestations may represent the earliest and persistent expression of the disease, extending into permanent dentition. In this case, characteristic periodontal destruction related to cementum defects resulted in early tooth loss. In the absence of enzyme replacement therapy, dental management remains preventive and supportive, emphasizing preservation of dentition, growth-adapted rehabilitation, and long-term pediatric dental follow-up.

Keywords : Hypophosphatasia, Alkaline phosphatase, mineralization defect, Early tooth loss, dental prosthesis.

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