				Using the search form

If you prefer to view this article in PDF form, click here.

Joe R. Monroe, PA-C, MPAS, DEPARTMENT EDITOR

A 43-year-old woman with curious freckling of the lips

Joe R. Monroe, PA-C, MPAS

The author practices at The Dermatology Clinic, Oklahoma City, Okla, and is the founder and President of the Society of Dermatology Physician Assistants. He has indicated no relationships to disclose relating to the content of this article.

A 43-year-old woman presents to dermatology for “removal” of asymptomatic lesions that have been on her lips since she was 10 years old. She was told many years ago that she had inherited these lesions, but she did not recall anything else about them. Her health had been good for most of her life, but she was still worried because her father, who had these same lesions, had died of colon cancer at a relatively young age. Recently, the patient had begun to experience some unexplained diarrhea and abdominal pain, for which she was scheduled to see her primary care provider.

Inspection of the vermilion surfaces of the lips revealed several obvious dark brown linear macules (see Figure 1). The same lesions, but fewer of them, were visible on the patient’s tongue and buccal mucosa. Her skin was generally free of freckling elsewhere, and she had little evidence of sun damage.

The history and physical examination suggest that the patient has

Moynahan syndrome
LEOPARD syndrome
Solar lentigines
Peutz-Jeghers syndrome

Discussion

The correct answer is Peutz-Jeghers syndrome (pronounced “poitz-yagers”), an autosomal dominant condition that manifests as, among other things, widespread cutaneous lentigines. These can involve the palate, tongue, and eyelids as well as the lips and buccal mucosa, as they did in this patient. The lesions typically appear in the first decade of life, but by the second decade, patients can develop GI polyps—mostly in the small bowel—which eventually become symptomatic with diarrhea, hemorrhage, obstruction, or intussusception. The polyps can become malignant, especially in the large bowel but also in the stomach.

Moynahan syndrome and LEOPARD syndrome are essentially the same thing, the latter being a mnemonic for the manifestations of Moynahan syndrome: L, lentigines; E, electrocardiographic conduction defects; O, ocular hypertelorism; P, pulmonic stenosis; A, abnormal genitalia; R, growth retardation; D, deafness. These patients exhibit hundreds of widely distributed, tiny brown macules, not just in limited areas, as with our patient, who had none of these other findings.

Patients with solar lentigines commonly develop freckles all over their bodies, including the vermilion surfaces of the lips, but the inside of the mouth is not involved so this diagnosis is incorrect as well.

This patient, like many others, was focused on one thing: eliminating her cosmetically unacceptable lesions. While that may be a reasonable desire, the provider’s attitude must be a bit different: “These lesions are odd—could they mean something for this patient’s health?” As with so many dermatologic conditions, the manifestations of Peutz-Jeghers syndrome would probably be unrecognizable to clinicians not working in dermatology—unless they had been exposed to this unusual condition at some point.

In this case, the patient received a referral to gastroenterology, where she will likely undergo upper and lower endoscopy, now and regularly in the future. Her diagnosis will also have implications for future generations of her family.