Congenital superficial angiomyxoma: a case report and literature review

Introduction

The superficial angiomyxoma was first described by Carney et al. in 1986. There is only one existing publication of an intraoral superficial angiomyxoma occurring in an infant. We present the second documented case of intraoral superficial angiomyxoma in a child accompanied by a literature review and a discussion regarding the association of this entity with the Carney complex.

Materials and Methods

Full-text case reports and case series in the English language were searched in PubMed, Ovid, Scopus, and Google Scholar Databases from 1986 to 2023. Results regarding aggressive angiomyxoma were excluded from the literature review to avoid confusion as the aggressive angiomyxoma has a higher rate of local recurrence and is mainly associated with the genital, perineal, and pelvic regions of adult women.

Results

We present a 6-month-old infant with a clinical presentation of a mass of the anterior maxillary gingiva. The patient’s mother stated that the lesion was increasing in size and obstructing feeding. Upon, histopathologic evaluation, CD34 and S-100 were positive. Actin was focally positive. A final diagnosis of superficial angiomyxoma was rendered due to these findings and a recommendation to rule out Carney complex was made to the parents.

Conclusion

The superficial angiomyxoma is a soft tissue tumor that should be distinguished from other cutaneous myxomas. We present a rare case of a superficial angiomyxoma in an infant, the second documented case of this lesion in a pediatric patient in the head and neck region, accompanied by a literature review. A loss of PRKAR1A, the Carney Syndrome-associated tumor suppressor gene product in syndromic angiomyxomas, has been observed and reported. Therefore, this entity should be considered among the differential diagnoses of cutaneous myxomas in the head and neck of children and genetic testing should be recommended to rule out Carney syndrome.