CASE REPORT
A 21 year-old female presented to dermatology for evaluation
of growing tumors on her feet. Lesions were asymptomatic
and appeared in early childhood. However,
walking and wearing shoes was becoming difficult. Evaluations
had been performed at institutions in Colorado and Florida
many years ago, but records were unavailable. Per the patient,
biopsies were performed at one of the institutions. Post-biopsy,
she was instructed to apply imiquimod, but the tumors regrew
within months of stopping treatment. No other interventions
attempted and the patient was unaware of any diagnoses.
Relevant further history included an abdominal lipoma treated
with surgical excision at the age of two, mild breast and
chest asymmetry, and a left popliteal mass with MRI imaging
performed in 2004 at an unknown institution. Birth and family
history was unremarkable.
Physical Exam
On the right 4th toe there was a large, pink, exophytic tumor
(Figures 1 and 2) with disfigurement of the distal phalanx and
toenail. Similar but smaller lesions were present on the left 3rd
and 4th toe. The left heel exhibited a pink cerebriform plaque
(Figures 3 and 4) with a smaller similar lesion on the left medial
sole. Prominent veins and varicosities were present on the
left popliteal fossa with extension to the dorsal foot. Abdominal
exam showed an asymmetrical crease with fullness of the left
rib cage but no gross deformities. Breast asymmetry was present
with left greater than right. Numerous small, light to dark
brown, macules were appreciated on the extremities and trunk.
The face showed no dysmorphic features. Hair, eyes, oral mucosa,
and nails were normal.
Diagnosis
The patient meets the general criteria and the criterion from
category A (cerebriform connective tissue nevus) for a diagnosis
of Proteus syndrome.
Proteus syndrome is a very rare disorder that can affect tissue
from any embryonic germ layer. Eminent findings include the progressive disproportionate overgrowth of tissues, cerebriform
connective tissue nevi (essentially pathognomonic), epidermal
nevi, adipose dysregulation (lipomas), and vascular malformations.
In addition to the plantar cerebriform connective nevi, our
patient has both a vascular malformation and adipose dysregulation.
Cerebriform connective tissue nevi can be found on the
plantar foot, hand, alae, ear, and lacrimal puncta (from most to
