Case Study

Cameron BerdakDate: 11/9/2010

Patient:

Age: 24

Gender: Male

Height: N/A

Weight: N/A

Vital Signs: HR:N/ARespiratory rate: N/ABlood Pressure:N/ATemperature:N/A

Chiefcomplaint

Mealnae

MedicalAlert

Name of Syndrome:

Peutz-Jeghers Syndrome

Cause of Syndrome - Medical History (if applicable) Autosomal Dominant inherited Disease

The cause of this disease seems to be a germline mutation of a tumor suppressor gene known as STK11/Lkb1. This gene has variable penetrances that cause differentiated phenotypic manifestations in people with Peutz-Jeghers. This means that the symptoms of the disease are similar in nature but vary between different cases of the disease.

Orofacial Clinical Features

Mucocutaneous pigmentation and melanin spots on the peribuccal mucosa and around the vermillion border of the lips. The macules are usually small brown or dark blue spots with the appearance of freckles. Localization in the oral mucosa is common in patients with PJS but the spots can also appear on the hands and feet.The spots usually are present at a young age and fade at puberty except for lesions on the mucosa

Age/race/sex predilections and Systemic Clinical Features:

• Hamartomatous polyps that from in the G.I tract mainly in the small intestines and stomach.•Intense abdominal pain•Unexplained intestinal bleeding in a young patient.•Prolapse of tissue from the rectum•Menstral irregularities in women•Prococious puberty•Gynecomastia in males•Bowel obstructions•Race- Cases have been presented in all races, no one more dominant than the other•Sex-Male and Female cases about equal•Age- 23 in men, 26 in women

Radiographic Features of this Syndrome

None.Endoscopic ultrasound is now being used for early detection of the polyps within the organs.

Special considerations in Treatment of this patient? How is it Diagnosed?How common is it? Is it a horse or zebra?

PJS is said to occur in 1 in every 25-30 thousands births worldwideI would consider it a zebra because although it is mainly inherited it is an actual mutation of a gene.

There are no real considerations of this disease that require specialized dental treatment in patients with PJS. However, it is important for us to understand the disease because the symptoms of it manifest in and around the oral cavity. We as health care providers cannot diagnose this but we can sure be the ones to detect this disease and refer patients to their physicians regarding our findings. Our findings of the mucosal pigmentation as well as endoscopic findings of intestinal polyps confirm the diagnosis of PJS.

Pictures of Disease or Syndrome

Intraoral Pictures

List Sources and References

Works Cited Bhattacharya, Sayantan. "Full Text | Melaena with Peutz-Jeghers Syndrome: a Case Report." Journal of Medical Case Reports. 8 Feb. 2010. Web. 07 Nov. 2010. <http://jmedicalcasereports.com/content/4/1/44#IDAVA3PY>. "Google Images."/Peutz-Jeghers syndrome Google. Web. 07 Nov. 2010. <http://www.google.com/images>. Ibsen, Olga A. C., Joan Andersen. Phelan, and Olga A. C. Ibsen. Oral Pathology for the Dental Hygienist. St. Louis, MO: Saunders/Elsevier, 2009. Print. Mukherjee, Sandeep. "Peutz-Jeghers Syndrome: EMedicine Gastroenterology." EMedicine - Medical Reference. 9 Apr. 2009. Web. 07 Nov. 2010. <http://emedicine.medscape.com/article/182006-overview>.