Woman with unusual nodules on her trunk and extremities

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: Aug 21, 2013

CHIEF COMPLAINT:  A 58-year-old Caucasian female presented with a 20-year nodules.

CLINICAL HISTORY:

Signs and symptoms:  Numerous slightly tender nodules on the trunk and upper and lower extremities.

Previous Treatment:  None

Other information:  The patient’s past medical history was significant for previous leiomyomata of the uterus, resulting in a hysterectomy in the early 1990’s. Otherwise, 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


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