Oral presentation of 10 patients with Cowden syndrome

Flores, Isadora Luana; Aranda‐Romo, Saray; Nava, Francisco Javier Tejeda; Santos‐Silva, Alan Roger; Vargas, Pablo Agustı́n; Almeida, Oslei Paes de; Lopes, Márcio Ajudarte

doi:10.1016/j.oooo.2014.01.015

Cited by 20 publications

(18 citation statements)

References 39 publications

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“…While the syndrome is both elusive and difficult to diagnose, its prevalence is estimated at approximately 1 in 250,000 people [2]. It was first described by Costello et al and later named by Lloyds and Dennis who reported their findings in a woman surnamed Cowden [3]. Its significance arises from its association with colorectal, mammary, thyroidal, and genitourinary cancers.…”

Section: Discussionmentioning

confidence: 99%

“…Overall, the lifetime risk of cancer in patients with CS was reported to be at approximately 89% with the largest portion of the patients presenting with breast and/or thyroid carcinomas [4]. CS also remains relevant to dental professionals because of the overwhelming prevalence of hamartomatous oral nodules observed in over 99% of patients [1,3]. As a result, dentists and oral health practitioners could potentially become a first line of discovery against this affliction.…”

Section: Discussionmentioning

confidence: 99%

“…Like other similar pathologies, the multi-systemic masses found in CS are often attributed to a mutation which resides in the tumor-suppressing properties of the PTEN gene that occurred at the germline level [3]. The PTEN mutation may also be linked to present traits including macrocephaly and large birthweight, which could help spur an earlier diagnosis during the newborn or infantile stages of life [1].…”

Section: Discussionmentioning

confidence: 99%

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Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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reported first noticing these lesions approximately 10 years prior. She also denied any history of oral surgery, facial trauma, and alcohol, tobacco, or recreational drug use. The patient's past medical history was significant for left and right mastectomy for bilateral ductal carcinoma and partial thyroidectomy for microcarcinoma. She received blood transfusions at multiple points during her surgical journey but her current medical regimen included only levothyroxine. Clinical FindingsIntraoral examination (Fig. 1) revealed generalized multiple white-pink round/oval papules on the patient's lips. She was noted to have a distinct 6 mm × 5 mm × 3 mm papillary lesion on the facial gingiva between teeth #25 and 26 with smaller lesions extending slightly inferiorly to the distal of teeth #27 and 28. Similar small patches of lesions were noted on her contralateral mandibular quadrant. Also noted was a 7 mm × 3 mm white lesion on her right buccal mucosa just superior to the occlusal plane on the distobuccal cusp of tooth #31. In addition, pink papillary growths were found on the palatal gingiva of teeth #1, 2, 3, 6, 7, 9, 10, and 11 (Fig. 2) along with a similar but white papillary lesion on the attached buccal gingiva of tooth #15 measuring 5 mm × 5 mm × 5 mm. Another 3 mm × 7 mm papillary cluster was noted on the lingual mandibular gingiva near teeth #21 and 22. White gingival tissue was noted on the crest of her #14 edentulous ridge site (Fig. 3). None of these lesions were removable with gauze. The tongue was otherwise normal, as was the floor of her mouth. Radiographic imaging of the maxillomandibular region was otherwise unremarkable.Abstract A case of Cowden syndrome (CS) is described in a 34-year-old African American female who reported a history of breast and thyroid malignancies. Clinical examination demonstrated multiple soft, white-pink papules across multiple mucosal surfaces of the oral cavity. Microscopy of the lesions revealed hyperkeratotic surface squamous epithelium with papillomatosis and acanthosis along with elongated rete processes. A genomic polymerase chain reaction direct sequencing using the patient's blood was positive for mutations of the PTEN gene typical of CS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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“…The symptoms of the Bannayan‐Riley‐Ruvalcaba syndrome are very similar to those of CS, and include facial papules. However, the difference between the two diseases lies in the fact that gingival hyperplasia is observed in the Bannayan‐Riley‐Ruvalcaba syndrome, not in CS . The Proteus syndrome and Juvenile Polyposis present a series of clinical manifestations that are similar to CS, though papillomatosis in the mouth are not reported …”

Section: Discussionmentioning

confidence: 99%

Cowden syndrome—a case report emphasizing the role of the dental surgeon in diagnosis

Webber

Martins

Carrard

et al. 2014

Special Care in Dentistry

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Cowden syndrome or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and macrocephaly. This report presents the case of a 36-year-old patient who looked for dental treatment for a gingival nodule. Current and past medical history and oral and facial manifestations led to the diagnosis of Cowden syndrome. This case report emphasizes the role of the dental surgeon in the diagnosis of this systemic disease, based on the analysis of medical history and manifestations in the oral cavity.

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“…Clinical descriptions of mucosal lesions of CS are sparse, and mostly come from dental literature, and describe them with such terms as ‘oral papules’, ‘papillomatosis’, ‘cobblestoning’, ‘fibropapillomatosis’ and ‘pebbly scrotal tongue’ – an aspect that associates innumerable small papules with deep groves on the tongue surface .…”

Section: Introductionmentioning

confidence: 99%