IADR Abstract Archives
The Presentation of Multiple Mucosal Harmatomas in Young Female Patients
Objectives: To help define the various causes of overt papulary lesions via biopsy sections, genetic testing, and a review of medical history. To document and explore the literature surrounding multiple mucosal harmatomas and their clinical significance in both dentistry and general healthcare.
Methods: A 34-year old African American female was referred for evaluation of multiple asymptomatic oral mucosal lesions. The lesions were of ten years' duration and lacked the presence of symptoms including pain, bleeding, swelling, or altered sensation associated with the affected areas. The patient also reported a history of bilateral mastectomy and partial thyroidectomy but with no distinct presence of risk factors. A blood test was also conducted to screen for the presence of well-known genetic causes. A review of the literature was conducted for conditions that may result in long-term multiple oral harmatomatous lesions and their significances. Biopsy and histopathologic analyses of the oral, thyroid, and breast lesions were conducted and reviewed.
Results: A combination of the symptoms, history of cancerous masses, and the detection of a PTEN mutation revealed a diagnosis of rare entity known as Cowden Syndrome. A survey of the current literature demonstrated that Heck's Disease, condylomata acuminata, acnathosis nigricans, Darier disease, tuberous sclerosis, multiple endocrine neoplsia, and squamous cell carcinoma are also possible culprits in similar presentations. Past reports on Cowden's syndrome suggest its associations with carcinomas of various origins, including the particularly dangerous (and so far undiagnosed in our patient) colorectal carcinoma often necessitating prophylactic colectomy. The studies also reveal an association with mutations in the PTEN tumor-suppressor gene as was present in our patient.
Conclusions: Cowden syndrome is a rare, autosomal dominant genetic disorder experienced by approximately 1 in 250,000 people. Its significance lies not only in the decreased quality of life resulting from the oral lesions but from the 89% lifetime risk of cancer, including those of the thyroid, breasts, and colon. Because the oral lesions are present in an overwhelming majority of patients, dentists remain at the forefront of detection for the presence of this rare but potentially deadly condition.
Methods: A 34-year old African American female was referred for evaluation of multiple asymptomatic oral mucosal lesions. The lesions were of ten years' duration and lacked the presence of symptoms including pain, bleeding, swelling, or altered sensation associated with the affected areas. The patient also reported a history of bilateral mastectomy and partial thyroidectomy but with no distinct presence of risk factors. A blood test was also conducted to screen for the presence of well-known genetic causes. A review of the literature was conducted for conditions that may result in long-term multiple oral harmatomatous lesions and their significances. Biopsy and histopathologic analyses of the oral, thyroid, and breast lesions were conducted and reviewed.
Results: A combination of the symptoms, history of cancerous masses, and the detection of a PTEN mutation revealed a diagnosis of rare entity known as Cowden Syndrome. A survey of the current literature demonstrated that Heck's Disease, condylomata acuminata, acnathosis nigricans, Darier disease, tuberous sclerosis, multiple endocrine neoplsia, and squamous cell carcinoma are also possible culprits in similar presentations. Past reports on Cowden's syndrome suggest its associations with carcinomas of various origins, including the particularly dangerous (and so far undiagnosed in our patient) colorectal carcinoma often necessitating prophylactic colectomy. The studies also reveal an association with mutations in the PTEN tumor-suppressor gene as was present in our patient.
Conclusions: Cowden syndrome is a rare, autosomal dominant genetic disorder experienced by approximately 1 in 250,000 people. Its significance lies not only in the decreased quality of life resulting from the oral lesions but from the 89% lifetime risk of cancer, including those of the thyroid, breasts, and colon. Because the oral lesions are present in an overwhelming majority of patients, dentists remain at the forefront of detection for the presence of this rare but potentially deadly condition.