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February 2013

Multiple Painful Skin-Colored Papules—Diagnosis

Author Affiliations
 

SECTION EDITOR: MARY S. STONE, MD; ASSISTANT SECTION EDITORS: SOON BAHRAMI, MD; CARRIE ANN R. CUSACK, MD; MOLLY A. HINSHAW, MD; ARNI K. KRISTJANSSON, MD; LORI D. PROK, MD

JAMA Dermatol. 2013;149(2):224. doi:10.1001/archderm.149.2.223-f

Histopathologic examination under hematoxylin-eosin stain revealed dense dermal nodules composed of clustered, eosinophilic spindle cells with elongated nuclei (Figure 3). These findings are consistent with benign leiomyoma.

The autosomal dominant syndrome of smooth muscle hyperproliferation within the skin and uterus is known as MCUL or Reed syndrome. The syndrome has been linked to various mutations in the fumarate hydratase gene and results in painful cutaneous papules and early development of uterine fibroids. Pathogenesis is attributed to loss of function of the fumarate hydratase gene, which has a known but incompletely understood tumor suppressor role. A variant of the syndrome that also includes renal cell carcinoma is known as the syndrome of hereditary leiomyomatosis and renal cell cancer.1

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