Presenter: Theresa Zaleski DO, Kelli Mayo Danowski DO, Kate Messana DO
Dermatology Program: St. Joseph Mercy Dermatology Program
Program Director: Dr. Daniel Stewart
Submitted on: August 21, 2013
CHIEF COMPLAINT: Nodules x 20 years
CLINICAL HISTORY: A 58-year-old Caucasian female presented with numerous slightly tender nodules on the trunk and upper and lower extremities for 20 years. No previous treatments. The patient’s past medical history was significant for previous leiomyomata of the uterus, resulting in a hysterectomy in the early 1990s. Otherwise, the review of systems was negative. Family history was positive for a renal mass of unknown type in the patient’s sister.
PHYSICAL EXAM:
Physical examination revealed numerous slightly tender firm skin-colored nodules on her bilateral upper and lower extremities and trunk. These lesions measured up to several centimeters in size.
LABORATORY TESTS:
DNA Extract, HLRCC Full Screen: positive for a heterozygous deletion of a single base at nucleotide 1293 of the fumarate hydratase gene (c. 1293delA).
DERMATOHISTOPATHOLOGY:
Excisional biopsies taken from the patient’s proximal forearm showed nonencapsulated, circumscribed dermal nodules composed of interlacing fascicles of mature smooth muscle cells. There was no evidence of mitotic activity or significant cellular pleomorphism.
DIFFERENTIAL DIAGNOSIS:
1. Neurofibromatosis
2. Leukemia cutis
3. Reed syndrome
4. Metastasis
5. Diffuse lipomas