A 23-year-old white woman with Rothmund-Thomson syndrome (RTS)
presented with a 1-month history of a 4-mm hyperkeratotic, skin-colored papule on the cutaneous surface of her right upper lip (Figure 1). A shave biopsy specimen showed a malignant melanoma that extended to the base of the specimen (1.20
mm) (Figure 2). Wide local excision with 1-cm margins was performed, and the depth of the melanoma was determined to be 2.44 mm. The sentinel lymph node biopsy findings were negative for malignancy. Findings of a metastatic workup, including positron emission tomography, computed tomography of her chest, abdomen and pelvis, and bone scan with technetium Tc 99m hydroxymethylene diphosphonate, were negative.
Howell SM, Bray DW. Amelanotic Melanoma in a Patient With Rothmund-Thomson Syndrome. Arch Dermatol. 2008;144(3):416-417. doi:10.1001/archderm.144.3.416