Infantile myofibromatosis. Report of two cases in one family

Abstract

Two brothers with infantile myofibromatosis are reported. Both had cutaneous and skeletal myofibromas with spontaneous and complete healing of their cutaneous lesions. These cases suggest autosomal recessive inheritance of this rare disorder.

Four half‐siblings with infantile myrofibromatosis: a case for autosomal‐recessive inheritance

“…Although most reported cases seem to be sporadic, several families with IM in more than 1 family member have also been reported. Although an autosomal‐dominant inheritance seems to be implicated in some reports, an autosomal‐recessive mode of inheritance seems to be supported by other studies [1–6].…”

“…A literature review revealed 7 additional families with IM in more than 1 family member. An autosomal‐recessive mode of inheritance seemed likely in five previous reports, totaling 7 pairs of siblings, with consanguinity in 1 family [2–6]. Another study of IM in an infant and her father suggested an autosomal‐dominant pattern; however, it is unknown if the marriage was consanguineous or if the father was himself the product of a consanguineous marriage [1].…”

An infant with multiple soft tissues masses and abnormal radiological bone anomalies

“…An autosomal dominant mode of inheritance seems to be supported by other studies [1,7,11]. No genetic markers have been identi®ed so far.…”

Infantile Myofibromatosis: A Case Report

“…Treatment with progesterone was successful in patients with diverse cases of fibromatosis (8). Because IM has occurred in several family members, a familial pattern of inheritance was suggested and supported by the recognition of IM in two brothers (9). The majority of cases are sporadic, but autosomal dominant, recessive, and polygenic modes of inheritance have been proposed (10.11).…”