Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Abstract

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

“…These are primarily neural crest derived tumors (neuroblastoma, medulloblastoma, oligodendroglioma, meningioma, pheochromocytoma, rhabdomyosarcoma, leiomyosarcoma, seminoma, odontoma, choristoma, hepatoblastoma, and pilomatricoma). Cases of leukemia and non-Hodgkin’s lymphoma have been reported [ 75 , 76 , 77 , 78 , 79 , 80 ]. The incidence of malignancy in RSTS patients was initially estimated to be between 3% and 10% [ 10 ].…”

Pilomatricoma Located at the Identical Position in the Right Upper Limb of the Twins: A Rare Case Report

“…12 Additionally, mutations in CREBBP and EP300 have been described in patients with pilomatricoma and Rubinstein-Taybi syndrome. 8,13 Thus, we speculated that gene mutation of the monozygotic twins may be associated with the onset of the solitary lesions. However, research into cutaneous conditions often reveals complex interactions between multiple genes and environmental factors, rather than single-gene mutations.…”

“…7 To date, the genetic underpinnings of pilomatricoma remain poorly understood, attributed to the condition's relative rarity. Indeed, there are few studies describing the pilomatricoma in twins, 8 while there are no reports of twins developing pilomatricoma at the same body position. In this case report, we present a rare occurrence involving monozygotic twins both diagnosed with pilomatricoma at identical locations on the skin of their right upper extremities.…”