Case report of segmental odontomaxillary dysplasia with cutaneous manifestations

Segmental odontomaxillary dysplasia is an uncommon nonhereditary growth disorder that affects the maxilla, gums and ipsilateral dentition. The disorder is diagnosed mainly based on dental (over-retention of primary teeth, dental agenesis and diastemas) and bone findings (bone sclerosis, irregular trabeculation of immature bone and reduced maxillary sinus). This paper provides a case report.

A 5-year-old child with skin manifestations including hypertrichosis, facial erythema and pigmented nevus was diagnosed with type II segmental odontomaxillary dysplasia based on clinical, radiographic and histopathological analysis.

The skin findings can help with the suspicion of segmental odontomaxillary dysplasia, although the definitive diagnosis is typically established by a paediatric dentist based on clinical and radiological findings.