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Chronic idiopathic hyperphosphatasemia. Case report

K Antoniades¹, D Karakasis, G Kapetanos

¹Department of Oral and Maxillofacial Surgery, Aristotle University of Thessaloniki, Greece.

Oral Surgery, Oral Medicine, and Oral Pathology

|August 1, 1993

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Chronic idiopathic hyperphosphatasemia, also known as juvenile Paget disease, is a rare bone disorder. This case highlights its association with precocious puberty and mandibular osteomyelitis, emphasizing complex clinical presentations.

Area of Science:

Pediatric Endocrinology
Skeletal Dysplasias
Rare Diseases

Background:

Chronic idiopathic hyperphosphatasemia (juvenile Paget disease) is an extremely rare genetic disorder of bone metabolism.
It presents with skeletal fragility, deformities, and elevated serum alkaline phosphatase and urinary hydroxyproline levels.

Observation:

A rare case of juvenile Paget disease is presented.
The patient exhibited features of precocious puberty.
The patient also developed odontogenic osteomyelitis of the mandible.

Findings:

The study details the clinical and radiographic characteristics of juvenile Paget disease.
Elevated serum alkaline phosphatase and urinary total hydroxyproline were noted.
Successful management of mandibular osteomyelitis through drainage, debridement, and antibiotics was achieved.

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Implications:

This case underscores the importance of recognizing diverse clinical manifestations of juvenile Paget disease.
It highlights potential associations with endocrine abnormalities like precocious puberty.
Early diagnosis and comprehensive management are crucial for patients with this rare syndrome.