Presenter: Emily Kate Matthews, D.O.

Dermatology Program: PBCGME

Program Director: Robin Shecter, D.O.

Submitted on: May 10, 2013

CHIEF COMPLAINT:  Axillary pigmented papule

CLINICAL HISTORY: Patient presented with an enlarging pigmented papule of left axilla and chronic headaches. Multiple BCCs on the face and neck were surgically excised. A history of odontogenic keratocysts at age 15.

PHYSICAL EXAM:
Bilateral palmar pits, frontal bossing, hypertelorism, marked pectus deformity
left axilla: 0.5cm x 0.4cm pearly papule with pigment globules and superficial telangiectasias on dermoscopy.

LABORATORY TESTS:

MRI brain: negative for medulloblastoma
CXR: bifid ribs present
pelvic ultrasound: no uterine or ovarian masses

DERMATOHISTOPATHOLOGY:

Epidermal nodular mass of basaloid cells extending into the superficial dermis with peripheral palisading, clefting, and pigment incontinence.

DIFFERENTIAL DIAGNOSIS:

1.   Basal Cell Nevus Syndrome
2.   Rombo syndrome
3.   Xeroderma pigmentosa
4.   Bazex-Dupre-Christol syndrome