|Year : 2014 | Volume
| Issue : 3 | Page : 77-81
Oral rehabilitation of Cowden's syndrome patient: A first case report
Rashmi Khanna1, Rajeev Khanna2, Sapna Sharma3
1 Assosiate Professor, Department of Periodontics, NIMS Dental College and Hospital, Jaipur, Rajasthan, India
2 Assosiate Professor Department of Pharmacy, Swasthya Kalyan Homeopathy Medical College, Jaipur, Rajasthan, India
3 Post Graduate student, Department of Periodontics, NIMS Dental College and Hospital, Jaipur, Rajasthan, India
|Date of Web Publication||24-Mar-2015|
C/o. Dr. Rajeev Khanna, D 9, Ram Nagar Colony, Shastri Nagar, Jaipur - 302 016, Rajasthan
Source of Support: None, Conflict of Interest: None
Cowden's syndrome (CS) is a complex and rare disorder of autosomal dominant inheritance with a variable phenotype. It is characterized by multiple malignant and benign hamartomatous lesions affecting several tissues and organs derived from the three germ layers. The organ system that most consistently manifests this syndrome is the skin. Mucocutaneous lesions are present in 99-100% of cases. The importance of this disease lies in the increased susceptibility to malignization of some lesions, especially breast, thyroid, and genito-urinary tract lesions. As a result, the disease has been considered a preneoplastic condition. Different types of management regimes have been advised for such patients (management of breast cancer, management of bone metastasis). But in this case report, we present for the first time the complete oral rehabilitation of a patient with CS, which, according to our knowledge, is the first documented case of its kind.
Keywords: Cowden′s syndrome, multiple hamartoma syndrome, phosphatase and tensin homolog syndrome, treatment of Cowden′s syndrome
|How to cite this article:|
Khanna R, Khanna R, Sharma S. Oral rehabilitation of Cowden's syndrome patient: A first case report. J Health Res Rev 2014;1:77-81
|How to cite this URL:|
Khanna R, Khanna R, Sharma S. Oral rehabilitation of Cowden's syndrome patient: A first case report. J Health Res Rev [serial online] 2014 [cited 2020 Feb 22];1:77-81. Available from: http://www.jhrr.org/text.asp?2014/1/3/77/153899
| Introduction|| |
Cowden's syndrome (CS) is a rare (prevalence estimated at 1/200,000), difficult to recognize, and under-diagnosed genodermatosis of autosomal dominant inheritance and variable phenotype, principally characterized clinically by multiple hamartomas of ectodermic, mesodermic, or endodermic origin.  Some of the lesions are prone to malignization; therefore, the disease belongs to the category of "preneoplastic hereditary syndromes."  Although the majority of the associated tumors are benign, the prevalence of malignancy, particularly breast and thyroid carcinomas, in affected patients is greater than in the general population.  Other features of the disorder include macrocephaly, gastrointestinal polyps, benign breast, thyroid, and endometrial manifestations, and highly pathognomonic features of mucocutaneous lesions.
Presence of mucocutaneous lesions in the oral cavity, estimated to have 99% penetration, is the basis for the diagnosis of CS, with the dentist being the first to identify it.  Although there are quiet a few reports in the literature highlighting the multiple phenotypic manifestations of this condition, very few report on the management of such a case, for example, management of breast carcinoma or management of bony metastasis. Furthermore, there is no case report mentioning the dental treatment given to these patients. In this article, we present, for the first time, the complete oral rehabilitation done for a patient of CS.
| Case report|| |
A 29-year-old female patient came to the Department of Periodontics, Goa Dental College and Hospital, India, accompanied by her father, with the chief complaint of loosening of her upper and lower dentures (fabricated 3 years back), due to swelling in the mouth that had progressively increased in size and number over the last 5 years. She desired new dentures. Medical history was non-contributory.
Physical examination revealed large head circumference with frontal prominence, hypertelorism, broad nasal bridge, microstomia, and adenoid facies. Multiple asymptomatic skin-colored papillomatous lesions measuring 1-3 mm were observed surrounding the facial orifices (i.e. around the eyes, mouth, and glabella region) [Figure 1] and [Figure 2], along with palmar and plantar keratosis. Patient also displayed signs of mental retardation.
Intraoral examination revealed partial edentulism with grossly carious lesions on the remaining teeth (postulated reason being inability of the patient to maintain oral hygiene due to presence of enlarged nodules on the alveolar ridge and also due to patient's mental status), high-arched palate, and fissured tongue. There were multiple asymptomatic, confluent, smooth surfaced, sessile, or pedunculated non-tender papules of variable size (1mm or less) in the maxillary & mandibular gingivae, on the dorsum of the tongue and hard palate, with a firm consistency and "cobblestones" appearance [Figure 3],[Figure 4] and [Figure 5]. A working diagnosis of CS was made and a series of additional investigations were advised to establish the definitive diagnosis. Complete hemogram, renal and thyroid function tests were normal, although ultrasound scan of the thyroid gland revealed echoing nodules in the left lobe. Ultrasound scan of breast revealed a small cystic radiolucency in the right breast.
|Figure 1: Cutaneous papillomatous lesions around facial orifices and glabella region, along with other extraoral features|
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|Figure 5: Multiple papular lesions on the high-arched palate along with partial edentulism and carious teeth|
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The patient was advised to undergo fine needle aspiration biopsy (FNAC) for the thyroid and breast lesions for confirmation, along with endoscopy of gastrointestinal tract (GIT) and Magnetic Resonance Imaging (MRI) of brain, which the patient refused.
A provisional diagnosis of CS was made and the patient was advised extraction of the root pieces, restoration of the carious teeth, followed by surgical excision of mucocutaneous lesions. But as the patient was unwilling to get the teeth restored due to financial reasons, total extraction of the carious teeth was planned with excision of mucocutaneous lesions on the maxillary and mandibular ridge and hard palate with electrocautery under local anesthesia (LA) [Figure 6] and [Figure 7]. Extraction sockets were closed with 3-'0' mersilk. Antibiotics were administered (Amoxicillin 500 mg × 7 days) and the patient was recalled after 1 week for checkup. On the recall visit, sutures were removed and healing was found to be satisfactory and uneventful. Follow-up after 4 weeks showed improved health of alveolar ridge [Figure 8], following which she was scheduled for fabrication of upper and lower complete dentures which were delivered to her in a week's time.
Patient's satisfied smile confirmed the success of our treatment [Figure 9]. She was not interested in the treatment of the thyroid and breast cyst.
| Discussion|| |
CS was first described by Costello in 1940.  It was defined and named by Llyod and Dennis in 1963, after their patient Rachel Cowden, a 20-year-old female who died of breast cancer.  In 1972, Weary and co-workers reported five more patients and suggested the name multiple hamartoma syndrome (MHS).  Since then, more than 300 cases have been documented.  Reports grow in number as knowledge of the disease increases.
Clinically, it is more frequent in women (60%) and in Caucasians (95%).  The first detectable signs normally appear in the second or third decade of life and are rarely observed at birth, infancy, or old age.  Its clinical features are numerous and varied. Many tissues and organs are affected. Skin and oral lesions are early clinical signs and can be easily detected; therefore, they frequently facilitate the diagnosis. Presence of mucocutaneous lesions is the pathognomonic sign of this condition, giving the mucosa a "cobblestone appearance," along with carious lesions, high-arched palate, and fissured tongue.  The International Cowden Consortium proposed a set of operational diagnostic criteria for the diagnosis of CS.  Our case fulfilled the pathognomonic criteria and three of the minor criteria, and can be placed under diagnostic criteria 1.
Early and accurate diagnosis of CS is essential because it is a multisystemic disorder having a significant association with the development of benign and malignant tumors of various organ systems, i.e., breast, thyroid gland, GIT, and brain. Presence of mucocutaneous lesions is the most remarkable oral sign (present in 99-100% cases); thus, a dentist may be the first professional to come up with a presumptive diagnosis.
In 1996, Nelen et al.  identified the genetic disorder responsible for this syndrome in the 22-23 locus of 10q chromosome. The responsible gene was named PTEN, a family of tumor suppressor genes that facilitate apoptosis and inhibit cell invasion. Its mutation determines the loss of tissue cell proliferation control, resulting in diverse hamartomatous growths and neoplasias, either benign or malignant. Most affected tissues are those composed of cells with a lifelong ability to proliferate, such as skin, mucosa, thyroid, breast, intestinal and gastric mucosa.
Differential diagnosis of this condition includes Bannayan-Riley-Ruvalcaba syndrome (which shows multiple subcutaneous lipomas, macrocephaly, and hemangiomas), proteus syndrome (characterized by skin overgrowth and atypical bone development accompanied by tumors over half of the body), tuberous sclerosis (having multisystem genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as kidneys, heart, eyes, lungs, and skin), fragile X syndrome [characterized by elongated face, large or protruding ears, and larger testes (macroorchidism)], Heck's disease (which shows white to pinkish papules that occur diffusely in the oral cavity), Darier's disease (keratosis follicularis or dyskeratosis follicularis), and juvenile polyposis syndrome (characterized by multiple polyps in the GIT with an increased risk of adenocarcinomas). 
Usually, cancer management is the main line of treatment in such cases, as the lesions here are highly susceptible to malignize. As far as the mucosal lesions are concerned, they need to be managed as a pre-prosthetic requirement for proper fabrication of dentures, for which many modalities have been tried and reported in the literature. Agents like rapamycin have shown to promote rapid regression of advanced mucocutaneous lesions.  Retinoids like oral etretinate and acitretine were shown to be temporarily efficient in two patients. Topical treatment with tretinoin lotion resulted in some improvement of cutaneous lesions.  Surgical excision of these lesions is also an option. For our patient, aesthetic rehabilitation was the main concern as she had loose dentures and enlarged nodules on the ridges, thus hampering her function also. The treatment plan created for her was restoration of carious teeth, extraction of root pieces, along with surgical excision of mucosal lesions followed by partial dentures, which, according to us, would suffice her functional and aesthetic demands. But due to lack of time and finances, the patient opted for total extraction. Thus, we decided to go by the patient's desire and excised the mucosal lesions (especially on the alveolar ridges) with electrocautery (for good hemostasis) in a single sitting under LA following total extraction. After extractions, the sockets were closed with 3-'0' mersilk; the patient was given antibiotics and antiseptic mouthrinses and was recalled after 1 week for checkup.
This treatment was similar to the treatment given to a case of CS by Chippagiri et al. in 2013, wherein the lesions on the right and left retrocommissural areas and lower lip were excised and gingivectomy with surgical contouring of the lower anterior gingiva was performed for aesthetic reasons. 
On recall visit of our patient, sutures were removed and healing was found to be uneventful. After 2 more weeks, the complete denture was fabricated and delivered to her. The patient was quiet satisfied with the dental treatment and denied any therapy for other lesions in the breast and thyroid.
| Conclusion|| |
Although multiple reports describe the clinical features of this syndrome and few talk about management of carcinomas associated with it, none talks about the aesthetic and oral rehabilitation of the patient. The present report is the first of its kind where a complete dental treatment was administered to the patient with CS leading to a marked improvement in her aesthetics. Though the knowledge of the clinical features of this disorder is abundant, more research needs to be done on the management of such a case.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9]