By Gary M. White, MD

Infantile myofibromatosis is a rare disease of infants. Several variants are recognized:

The solitary type is most common and benign. Familial cases have been reported. Mutations in PDGFRB and NOTCH3 genes are rarely found.


The benign solitary type typically presents at birth or early in life with a firm, rubbery papulonodule. The surface may exhibit telangiectasias and/or a violaceous hue. They may resemble hemangiomas.

Differential Diagnosis

Other nodules that may occur in the infant include hemangioma, leiomyoma, sarcoma, pilomatricoma, and neuroblastoma.


These tumors may extend to the bone and local imaging is necessary, e.g. EKG, CXR, skeletal radiographs, and CAT scan. Repeated exams may be necessary as tumors may develop over time.


Referral to a pediatric specialist is recommended. Briefly:

Complete excision of the solitary form is usually curative. As solitary cutaneous lesions may regress spontaneously, close clinical observation is an alternative [JAAD 2014; 71:264]. An atrophic scar and/or calcification may remain.

For the multicentric form, spontaneous resolution may occur, but severe atrophic scarring may result. Complications may arise because of pressure on various bodily structures. Thus, surgical excision may be needed and may give the best cosmetic result.

For the visceral form, where prognosis is poor, chemotherapy may be tried.


Solitary form on the shoulder of an infant. Dermatology Online Journal 2015;21;10


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