Presenter: Jamie Hale DO, Rick Limbert DO, Stacey Seastrom DO
Dermatology Program: Largo Medical Center/NSUCOM
Program Director: Richard Miller DO
Submitted on: July 16, 2013
CHIEF COMPLAINT: “Bumps” on his face and multiple lesions on his hands and feet for “years”
CLINICAL HISTORY: 11 y/o AA male presented for evaluation of a “bumps” on his face and multiple lesions on his hands and feet for “years”. This patient presented with a several year history of multiple lesions on his face and hands. They were asymptomatic, not present at birth, and more prominent after bathing on his feet. He denied headaches or vision changes. His past medical history was significant for odontogenic keratocysts of his right maxilla, left maxilla and mandible at the age of 10 with subsequent excision of these keratocysts. He was not on any medications at this time. The patient’s family history was negative for any skin disorders. An MRI of his brain revealed calcifications along the tentorium in the midline. A dental panoramic radiograph revealed prior keratocysts. Skeletal radiographs, ophthalmology evaluation, and genetic counseling were also ordered and he was found to be positive for the PTCH1 gene mutation. At this time he was diagnosed with Nevoid Basal Cell Carcinoma Syndrome. Previously, excision of maxillary and mandibular keratocysts was performed. Multiple excisions of facial basal cell carcinomas under general anesthesia with plastic surgery and ED&C’s of his basal cell carcinomas were performed with subsequent keloid formation. The patient is currently using topical imiquimod 5% cream 5 times weekly and tretinoin 0.1% cream to his face.
PHYSICAL EXAM:
Physical exam of his face revealed multiple light to dark brown facial papules and frontal bossing. Bilateral hands and feet revealed pitting.
LABORATORY TESTS: N/A
DERMATOHISTOPATHOLOGY:
Shave biopsy of a facial lesion was performed and histopathologic evaluation revealed findings consistent with a pigmented nodular basal cell carcinoma.
DIFFERENTIAL DIAGNOSIS:
1. Dermatosis Papulosa Nigra
2. Pigmented Basal Cell Carcinoma
3. Seborrheic Keratosis
4. Trichoepitheliomas
5. Angiofibromas, Sebaceous adenomas, Nevi, Fibrous Papules
