Generalized infantile myofibromatosis with visceral involvement presenting as diffuse hypopigmented macules at birth

Abstract

The initial clinical presentation of infantile myofibromatosis can vary from subtle skin changes to large tumors. Here, we describe a case of congenital generalized infantile myofibromatosis which presented with diffuse hypopigmented macules, some with subtle atrophy and telangiectasia. Further workup revealed visceral involvement which led to treatment with systemic chemotherapy. Awareness of this rare clinical presentation is crucial to expedite workup and treatment given the poor prognosis in infants with visceral involvement.

Atrophic macules containing mesenchymal cells are precursor lesions of osteoma cutis in Albright hereditary osteodystrophy

“…Dermal neurofibromas of neurofibromatosis 1 (NF1) may appear as violaceous macules with a similar color to our patients' lesions 12 ; however, negativity for S100 and the absence of any other manifestation of NF1 in our patient ruled out this possibility. Finally, infantile myofibromatosis may present as atrophic lesions, and a case of multiple small, hypopigmented macules, some of them with atrophy, has been reported 13 . Histopathology of the skin lesions showed a dense, dermal neoplasm of SMA + spindle cells with minimal stroma; there was also a dermal proliferation of thin‐walled vessels, some of them with elongated, slit‐like appearance 13 .…”

“…Finally, infantile myofibromatosis may present as atrophic lesions, and a case of multiple small, hypopigmented macules, some of them with atrophy, has been reported 13 . Histopathology of the skin lesions showed a dense, dermal neoplasm of SMA + spindle cells with minimal stroma; there was also a dermal proliferation of thin‐walled vessels, some of them with elongated, slit‐like appearance 13 . On histopathology a classic case of myofibroma shows a biphasic growth pattern, with primitive cellular zones often showing increased mitotic activity associated with hemangiopericytoma‐like branching blood vessels.…”

“…13 Histopathology of the skin lesions showed a dense, dermal neoplasm of SMA + spindle cells with minimal stroma; there was also a dermal proliferation of thinwalled vessels, some of them with elongated, slit-like appearance. 13 On histopathology a classic case of myofibroma shows a biphasic growth pattern, with primitive cellular zones often showing increased mitotic activity associated with hemangiopericytoma-like branching blood vessels. These areas are surrounded by hyalinized nodules or fascicles of myoid spindled cells.…”