Orale Manifestationen der Hypophosphatasie – Pathophysiologie, klinische Merkmale und diagnostische Aspekte

Zusammenfassung

Hintergrund

Die Hypophosphatasie (HPP) ist eine seltene genetische Störung des Knochen- und Mineralstoffwechsels. Neben skelettalen Veränderungen treten häufig dentoalveoläre Symptome auf, die in der zahnärztlichen Praxis bislang wenig beachtet werden. Ziel dieser Arbeit ist es, die oralen Manifestationen der HPP zusammenzufassen und deren diagnostische Bedeutung hervorzuheben.

Methoden

Im Rahmen eines Scoping Reviews wurden 30 Studien zu oralen Befunden bei HPP in PubMed, Scopus und Web of Science identifiziert und qualitativ ausgewertet. Eingeschlossen wurden klinische und experimentelle Arbeiten mit Fokus auf Zahnhartsubstanz-, Zement- und Alveolarknochenveränderungen.

Ergebnisse

Frühzeitiger Zahnverlust – insbesondere im Milchgebiss ohne physiologische Wurzelresorption – stellt das häufigste orale Symptom dar. Histologische und radiologische Befunde zeigen Defekte in Zement, Dentin und Alveolarknochen mit strukturell bedingter parodontaler Instabilität. Entzündliche Prozesse spielen meist eine untergeordnete Rolle. Niedrige ALP- und erhöhte PLP-Spiegel korrelieren mit der Ausprägung der dentoalveolären Symptome.

Schlussfolgerung

Die orale Beteiligung bei HPP liefert wichtige diagnostische Hinweise, insbesondere bei milden Formen. Zahnärztinnen und Zahnärzte können durch frühzeitige Erkennung entscheidend zur Diagnosestellung beitragen. Eine interdisziplinäre Zusammenarbeit zwischen Zahnmedizin und Osteologie ist essenziell.

Abstract

Background

Hypophosphatasia (HPP) is a rare genetic disorder of bone and mineral metabolism. In addition to skeletal abnormalities, pronounced dentoalveolar symptoms frequently occur but remain underrecognized in dental practice. This review aims to summarize the oral manifestations of HPP and emphasize their diagnostic relevance.

Methods

A scoping review of 30 studies on oral findings in HPP was conducted using PubMed, Scopus, and Web of Science. Clinical and experimental papers addressing defects in cementum, dentin, and alveolar bone were qualitatively analyzed.

Results

Premature tooth loss – especially in the primary dentition without physiological root resorption – is the most common finding. Histological and radiological studies reveal hypomineralized cementum, dentin, and alveolar bone leading to structural periodontal instability. Inflammatory components are usually absent. Low ALP and elevated PLP levels correlate with the severity of oral symptoms.

Conclusion

Oral involvement in HPP provides key diagnostic clues, particularly in milder cases. Dentists play a crucial role in early detection. Close interdisciplinary collaboration between dentistry and osteology is essential to enable timely diagnosis and management.

Schlüsselwörter

Hypophosphatasie - Mundgesundheit - Mineralisationsstörungen

Keywords

Hypophosphatasia - Oral Health - Mineralization Disorder

^* These authors contributed equally to the study and share the position as last author.

Publication History

Received: 13 October 2025

Accepted: 19 November 2025

Article published online:
13 February 2026

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