When a 22-month-old child presents with the premature loss of four anterior primary teeth, most clinicians immediately begin looking for an explanation.
Was there trauma?
Could it be an aggressive periodontal condition?
In this case, the answer to all those questions was no.
There had been no falls, no accidents and no obvious local factors that could explain why a toddler had already lost multiple primary teeth. Yet the teeth were gone—and that observation would eventually lead to the diagnosis of a rare inherited metabolic disorder.
A recently published six-year follow-up case report highlights how pediatric dentists may be the first healthcare professionals to identify hypophosphatasia (HPP), a rare condition characterized by deficient alkaline phosphatase activity and impaired skeletal and dental mineralization.
At the initial dental visit, the missing teeth were only part of the story.
The child also demonstrated short stature and balance difficulties. Clinical examination revealed mobility of the remaining primary incisors, while laboratory investigations later showed persistently low alkaline phosphatase levels, hypercalciuria and elevated urinary phosphoethanolamine.
Genetic testing ultimately confirmed a mutation in the ALPL gene, establishing the diagnosis of hypophosphatasia.
Interestingly, the skeletal findings were relatively subtle at the time of diagnosis.
The dental findings, however, were impossible to ignore.
One of the most characteristic oral manifestations of hypophosphatasia is the premature exfoliation of primary teeth with little or no root resorption.
That detail is important.
Most primary teeth are lost because their roots gradually resorb as permanent successors erupt. In HPP, however, teeth may exfoliate with roots largely intact because the underlying problem lies in defective cementum formation and periodontal attachment.
In other words, the tooth is not being pushed out by a successor—it is losing its anchorage.
Once the diagnosis was established, management extended far beyond dentistry.
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