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Biomedical subjects

Christopher T Cassetty

Publications and source records attributed to Christopher T Cassetty.

6 recordsLinked to original sources

Chronic cutaneous lupus erythematosus mimicking pseuxanthoma elasticum.

54-year-old woman presented with an unusual presentation of chronic cutaneous lupus erythematosus that mimicked pseudoxanthoma elasticum. The lesions were asymptomatic, 2-3 mm, skin-colored, smooth papules without scale or erythema; they were located on the chin, medial malar cheeks, and upper lip. She previously failed traditional treatments, which included hydroxychloroquine and dapsone. The patient responded to thalidomide with a reduction in appearance and number of lesions.

Facial Dermatoses↗

Familial leiomyomatosis cutis et uteri.

A 45-year-old woman presented with multiple, small, asymptomatic, hyperpigmented to skin-colored, smooth, dermal papules on the right temple as well as with uterine fibroids. She has a family history of uterine fibroids and cutaneous leiomyomas. An autosomal dominant disorder of multiple cutaneous leiomyomas and uterine fibroids (Reed syndrome) has been localized to a gene on chromosome 1q42.3-43. This gene encodes fumarate hydratase, which is an enzyme in the Kreb cycle, that acts as a tumor suppressor in this familial disorder. A subset of people may be at risk for papillary renal cell carcinoma.

Female↗

Tuberous sclerosis complex (Bourneville disease).

A 26-year-old woman with tuberous sclerosis complex had numerous cutaneous manifestations and systemic manifestations that included subependymal nodules, pulmonary lymphangioleiomyomatosis, renal cysts, and bilateral renal angiomyolipomas. Tuberous sclerosis is a hamartomatous disease with defects in either hamartin (TSC1) or tuberin (TSC2) that can be of autosomal dominant inheritance or spontaneous mutation.

Adult↗

Mycobacterium marinum infection.

A 49-year-old man presented with nodules on his right hand after a history of Mycobacterium marinum infection recently treated with rifampin and clarithromycin. The patient has an aquarium with Betta fish (Siamese fighting fish).

Hand Dermatoses↗

Epidermal nevus.

A 20-year-old woman presented with an asymptomatic, life-long, verrucous, hyperpigmented plaque on the face and neck that corresponded to the lines of Blaschko. Histopathologic examination shows an epidermal nevus. This nevus presents a challenge in management because of the location and extent of the lesion.

Adult↗