Presenter: Robert Murgia, DO

Dermatology Program: LewisGale Hospital Montgomery

Program Director: Daniel Hurd, DO

Submitted on: December 4, 2016

CHIEF COMPLAINT:  Brown macules on lips and hands

CLINICAL HISTORY: The patient is a 34-year-old male who presented for a benign skin complaint and upon questioning, reported a lifelong history of brown macules on the lips, buccal mucosa, and hands. At age 13, he presented to his local emergency department with abdominal pain. He was told that this was likely a viral illness, and the pain resolved spontaneously over the next few days. A similar self-resolving episode occurred two years later. At age 16, the pain again returned while the patient was camping, and he was found to have a small bowel obstruction and intussusception. Additionally, he was found to have three large hamartomatous polyps requiring a partial hemicolectomy. He has since had several endoscopies and colonoscopies, as well as numerous gastric and colonic polypectomies. No previous treatments to the lesions. Of note, two brothers (32 and 23), both with similar findings. Father and paternal uncle with similar findings.

PHYSICAL EXAM:
On presentation, he was a well-appearing pleasant Hispanic male. Multiple discrete hyperpigmented macules were apparent throughout the labial and buccal mucosa as well as the periocular and digital skin. Scalp examination was unremarkable. No melanonychia was appreciated.

LABORATORY TESTS:

Colonoscopies and endoscopies: 1999-2013 → Multiple gastric, colonic, and small bowel polyps requiring polypectomies. In 2009, surgery complicated by severe gastrointestinal hemorrhage requiring emergent repair.

CT Scan: 1999 → Intussusception requiring partial small bowel resection

DERMATOHISTOPATHOLOGY: N/A

DIFFERENTIAL DIAGNOSIS:

1.   Peutz-Jeghers Syndrome
2.   Cronkhite-Canada Syndrome
3.   Laugier-Hanziker Syndrome
4.   Leopard Syndrome
5.   Carney Complex