ABSTRACT
Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old boy who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management, and recent advances in our understanding of this rare condition.
Subject(s)
Myofibroma/pathology , Shoulder , Skin Neoplasms/pathology , Biopsy , Humans , Infant , Male , Myofibroma/diagnosis , Skin/pathology , Skin Neoplasms/diagnosisABSTRACT
BACKGROUND: The presence of six or more café au lait (CAL) spots is a criterion for the diagnosis of neurofibromatosis type 1 (NF-1). Children with multiple CAL spots are often referred to dermatologists for NF-1 screening. The objective of this case series is to characterize a subset of fair-complected children with red or blond hair and multiple feathery CAL spots who did not meet the criteria for NF-1 at the time of their last evaluation. METHODS: We conducted a chart review of eight patients seen in our pediatric dermatology clinic who were previously identified as having multiple CAL spots and no other signs or symptoms of NF-1. RESULTS: We describe eight patients ages 2 to 9 years old with multiple, irregular CAL spots with feathery borders and no other signs or symptoms of NF-1. Most of these patients had red or blond hair and were fair complected. All patients were evaluated in our pediatric dermatology clinic, some with a geneticist. The number of CAL spots per patient ranged from 5 to 15 (mean 9.4, median 9). CONCLUSION: A subset of children, many with fair complexions and red or blond hair, has an increased number of feathery CAL spots and appears unlikely to develop NF-1, although genetic testing was not conducted. It is important to recognize the benign nature of CAL spots in these patients so that appropriate screening and follow-up recommendations may be made.
Subject(s)
Cafe-au-Lait Spots/diagnosis , Neurofibromatosis 1/diagnosis , Skin Pigmentation , Ambulatory Care Facilities , Child , Child, Preschool , Dermatology , Dermoscopy/methods , Diagnosis, Differential , Female , Humans , Male , Ophthalmology , Sampling Studies , Severity of Illness IndexABSTRACT
Infantile myofibroma is a rare fibromatous tumor that is variable in presentation and is frequently mistaken for hemangioma or rhabdomyosarcoma. We describe a 14-month-old male who presented with multiple, enlarging, firm lesions on the shoulder. Biopsy revealed a proliferation of small spindle cells with myxoid and hyalinized stroma infiltrating into the superficial adipose tissue. We provide a brief review of the clinical presentation, histopathologic features, management and recent advances in our understanding of this rare condition.
Subject(s)
Myofibromatosis/congenital , Skin/pathology , Biopsy , Diagnosis, Differential , Humans , Infant , Male , Myofibromatosis/diagnosis , Plaque, Amyloid/diagnosis , ShoulderABSTRACT
Sinus pericranii is a rare vascular malformation in which the extracranial veins are connected to the intracranial venous circulation. It typically appears as a soft mass with a blue hue on the scalp. We describe a patient with sinus pericranii and associated hair collar sign.