Presenter: Reagan Anderson
Dermatology Program: Oakwood Southshore Medical Center
Program Director: Steven Grekin
Submitted on: Jun 20, 2008
CHIEF COMPLAINT: 6 year-old white female presents to clinic with masses on left jaw, right hand and left ankle which have been progressively and symmetrically enlarging for the last 4 years.
Signs and symptoms:
Previous Treatment: Patient was initially seen by multiple providers for “excess skin” on her right hand and left foot. Consultation at 3 years of age to Genetic and Metabolic Disorders at the Detroit Medical Center by Orthopedics was not conclusive but a diagnosis of neurofibromatosis (NF) type 1 was entertained. MRI of the left foot was performed at 3 years of age which was read as a likely venous or lymphatic structure. Follow-up with US was recommended by radiology but not performed. Patient was sent to Ophthalmology and had a normal examination.
Patient presents to our clinic, now at 6 years of age, with concerns that the masses of tissue on the left jaw, right hand, and left ankle have been proportionately growing with child’s age. She is asymptomatic and lesions do not interfere with daily life except for having to buy different sized shoes. So far, cheek and tongue lesions do not interfere with eating or swallowing and do not increase in size when illnesses are present.
Other information: Patient was borne full-term to a then 33 year-old G2P1 who reports a normal pregnancy with no complications and no known exposures to teratogens, illegal drugs, or radiation. Patient has attained all developmental milestones and is completely age-appropriate. Parents report no behavioral problems. Patient is otherwise in good health with no known illnesses or conditions other than the soft tissue masses. Family history is non-contributory except for a maternal first cousin once removed from the patient who has been diagnosed with NF type 1.
Left face has a prominent tumorous mass which extends into the buccal mucosal. Noted asymmetry of the left side of her tongue due to a soft-tissue mass is present. The right hypothenar eminence has a soft-tissue mass which does not seem adherent to underlying tendinous structures. The left ankle has a similar soft-tissue mass which encompasses most of the heel. No bruits or hypertrichosis are associated with the lesions. Additionally, patient has multiple café au lait spots on her legs, back, and arm. Some are larger than 5mm. No other abnormalities are noted on physical examination.
Ophthalmology and skeletal x-rays (at 3 years of age). Spinal X-ray at 3 years of age showed levoconvex curvature which was likely positional in nature.
Left foot MRI at 3 years of age revealed a likely venous or lymphatic structure.
MRI of hand at 6 years of age revealed a likely venous or lymphatic structure.
US performed at 6 years of age: left submandibular region and right hand are likely lymphatic malformations. Embolization was suggested as possible treatment. Left foot has a more “diffuse-type of lymphatic malformation.” MRI is suggested.
Two elliptical biopsies were submitted, one from the mass on the right hand and one from the left ankle. These showed “skin with hyperkeratosis with diffuse proliferation of elongated cells in a myxoid background separated by fibrous septae. Plexiform arrangement is noted in the deep portion. No atypical changes are seen. Both lesions reach the margins of excision. No lymphatic malformation is identified.” Diagnosis is of diffuse and plexiform neurofibromas.
1. Proteus Syndrome
2. Blue Rubber Bleb Nevus Syndrome
3. Maffucci’s Syndrome
4. Isolated Venous Malformation
5. Neurofibromatosis Type 1