Multiple Pilomatricomas in Association with Trisomy 9

Abstract

Multiple appearance of pilomatricoma is a rare phenomenon that has been associated with some diseases like Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. We present a case of association of multiple pilomatricoma and trisomy 9, which represents the third published in literature. As a result of the small prevalence of these two entities, we believe they could be related.

Updated view on epidemiology and clinical aspects of pilomatricoma in adults

“…Pilomatricoma has been found more frequently in females and most commonly occurs in the head and neck area, followed by the trunk and extremities. This tumor usually presents as a solitary lesion; however, rare cases of multiple pilomatricomas have been reported in patients with systemic disease, such as Gardner's syndrome, myotonic dystrophy, Trisomy 9, sarcoidosis, Rubinstein‐Taybi syndrome, Soto syndrome, skull dysostosis, and Turner syndrome …”

“…This tumor usually presents as a solitary lesion; however, rare cases of multiple pilomatricomas have been reported in patients with systemic disease, such as Gardner's syndrome, myotonic dystrophy, Trisomy 9, sarcoidosis, Rubinstein-Taybi syndrome, Soto syndrome, skull dysostosis, and Turner syndrome. 4 Histologically, pilomatricoma shows a characteristic, well-circumscribed border, surrounded by a connective tissue capsule. 5 It is usually located in the lower dermis and is composed of a mixed population of basaloid epithelial cells and anucleate ghost cells ( Fig.…”

Prevalence of Pilomatricoma in Turner Syndrome

“…26 Error in expression of ␤-catenin (encoded by CTNNB1) has been attributed to pilomatricomas 27 and may lead to the development of pilomatricomas in other genetic disorders such as Gardner syndrome, 28 myotonic dystrophy, 29 Rubinstein-Taybi syndrome, 30 cerebral gigantism, 31 Kabuki syndrome, 32 gliomatosis cerebri, 33 glioblastoma, 34 and trisomy 9. [35][36][37] There may be an association between an upstream event that causes increased ␤-catenin expression and subsequent development of pilomatricomas.…”

Multiple Familial Pilomatrixomas in Three Generations: An Unusual Clinical Picture

“…The most significant of these are myotonic dystrophy, an autosomal dominant condition with variable phenotypic expressivity, and familial adenomatous polyposis (FAP). Other associations with multiple lesions reported include Turner syndrome , sarcoidosis, Rubenstein–Taybi syndrome , trisomy 9 , spina bifida , and gliomatosis cerebri . These underlying genetic pathologies may or may not be apparent to patients or clinicians on presentation.…”