Hari Shankar Sharma1 and Shivali Sharma2*
1Department of Otorhinolaryngology, SMIMS, Gangtok, Sikkim, India
2Senior Resident, Department of Otorhinolaryngology, AIIMS Udaipur, Rajasthan, India
*Corresponding Author: Shivali Sharma, Senior Resident, Department of Otorhinolaryngology, AIIMS Udaipur, Rajasthan, India.
Received: March 15, 2021; Published: March 24, 2021
Screening for cancer associated with syndromes is a very common practice nowadays. Nodular Thyroid disease is very uncommon in childhood and adolescence when their family is having history of nodular thyroid disease which has been diagnosed with benign or malignant disease.
Keywords: Cowden Syndrome; Thyroid Disease; Cancer; PTEN Gene
Cowden syndrome is one such condition. Cowden syndrome is an autosomal dominant condition with variable expression associated with mutation in PTEN gene on arm 10q [8]. It causes hamartomatous [2,3] neoplasm of any organ cases. In this syndrome, the phenotypic presentation of a patient and their relatives must be observed carefully. By 20 years of age, skin lesions are seen in all cases, by 40 years of age, one of the malignancy is seen. Skin lesions (90 - 100%), multinodular thyroid (66 - 75%) with prevalence of 1 in 200,000 (US Study). Review of English literature shows only 300 reported Cowden syndrome. Patients with germ-line mutation associated with this syndrome are at increased risk of developing a varied range of tumours over their lifetime.as a result, appropriate counselling and follow-up are necessary [1].
An 18 years old thin built macrocephalic female patient presented with 10 x 5 x 4 cm in size thyroid swelling for 2 years which was gradually increasing in size with firm consistency over the right thyroid lobe. Multiple papular lesion (1 - 3 mm) seen on upper and middle-third of face. Multiple papules giving cobblestone appearance on gingiva, corrugated appearance on lips and moniform appearance on tongue. Similar findings were seen on her younger sister. Based on clinical profile, CBC, urine analysis, thyroid profile, USG neck, FNAC neck swelling, USG whole abdomen, breast and skin lesion biopsy were advised for investigation.
Image 1: Patient with multinodular goiter.
Image 2: Facial lesion showing trichilemmoma.
Image 3: Mucosal lesions, moniform appearance of tongue.
Image 4: Mucosal lesions on tongue.
Image 5: Corrugated appearance on lips, pappilomatosis.
CBC, urine analysis and thyroid profile were not significant. USG neck findings and FNAC suggested multinodular goitre. Skin biopsy showed benign trichilemmomas [10].
Image 6: Skin lesion biopsy.
Skin lesion biopsy showing following findings [11]:
Image 7: Multiple fibroadenomas with cystic swellings breast in USG.
USG findings are:
Gross: Right hemithyroidectomy specimen measuring 7.5 cm x 5.5 cm x 3 cm. Outer surface capsule intact. Cut surface has variable areas of colloid filled hemorrhagic nodules.
Image 8: Right hemithyroidectomy specimen.
Microscopic section studied from right lobe shows fibrocartilaginous capsule surrounding numerous follicles of varying shape and size lined by flat to cuboidal follicular cells and filled with thick and thin colloid. The interfollicular areas show foci of haemmorrhage with few haemosiderin laden macrophages diagnosed as multinodular goitre.
Based on history, clinical examination, HPE and biopsy skin, Cowden syndrome with multiple cutaneous papillomatosis, oral fibromas, multinodular goiter and fibrocystic disease of breast was diagnosed.
Cowden syndrome is an autosomal dominant condition with variable expression associated with mutation in PTEN gene on arm 10q [8]. It causes hamartomatous neoplasm of any organ [2,3]. By 20 years of age, skin lesions are seen in all cases, By 40 years of age, one of the malignancy is seen. Skin lesions (90 - 100%), multinodular thyroid (66 - 75%) with prevalence of 1 in 200,000 (US Study). Review of English literature shows only 300 reported Cowden syndrome cases internationally till date.
Affected tissues are those having higher rate of proliferation, such as [7]:
An operational diagnosis of Cowden syndrome is made if an individual meets any one of the following [9]:
Pathognomonic criteria |
Major criteria |
Minor criteria |
Adult Lhermitte-Duclos disease |
Breast cancer |
Other thyroid lesions (adenoma multinodular goitre) |
Mucocutaneous lesions:
|
Epithelial thyroid cancer (non‐medullary), especially follicular thyroid cancer |
Intellectual disability (iq <75)
|
Trichilemmomas |
Macrocephaly (> 97th percentile) |
Hamartomatous intestinal polyps |
Acral keratoses |
Endometrial carcinoma |
Fibrocystic disease of the breast |
Papillomatous lesions |
|
Lipomas |
Mucosal lesions |
|
Fibromas |
|
|
Genito‐urinary malformation |
|
|
Uterine fibroids |
Table 1
Management includes:
Citation: Hari Shankar Sharma and Shivali Sharma. “A Rare Case of Cowden Syndrome Presenting as Multinodular Goitre".Acta Scientific Otolaryngology 3.4 (2020): 70-74.
Copyright: © 2020 Hari Shankar Sharma and Shivali Sharma. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.