Cowden syndrome- Clinico-radiological illustration of a rare case
A 19-year-old female patient reported to our Department with the chief complaint of swollen lower lip since 1 year. Her medical history revealed history of surgical treatment of a lump in the breast 2 years back. History also revealed presence of dysmenorrhea, frequent diarrhea and generalized body ache since 3 years. Her parents and other siblings were normal. On general examination, the patient appeared thin built. Her left palm and left thumb showed presence of lobulated nodules [].\nExtra-oral examination revealed presence of multiple skin colored flat papules (trichilemmomas) on her face involving the bridge of the nose, forehead region and on the upper lip measuring around 1-5 mm in diameter []. Lower lip also showed multiple non-tender papular growths around 1-3mm in diameter, clustered at certain places [].\nIntra oral examination revealed smooth whitish papillomatous lesions involving the dorsal surface of the tongue and the buccal mucosa measuring 1-5 mm in diameter [Figures and ]. On the basis of history and clinical examination, the patient was provisionally diagnosed as a case of CS.\nSeveral investigations were performed for this patient to rule out other hamartomas and malignancies that included complete blood investigations, thyroid profile and thyroid scan, ultrasonography of breast, thyroid, ovaries and nodules of palm, mammography, orthopantomogram, Magnetic Resonance Imaging of brain, Digestive endoscopy and Fine needle aspiration cytology from the lesions of the breast and thyroid along with incisional biopsy from the tongue and the lip lesions.\nHematological investigations of the patient and the thyroid profile (T3, T4. Thyroid stimulating hormone did not reveal any changes from the normal reference values. The mammography and orthopantomogram of the patient revealed normal findings. MRI of brain did not reveal any lesions in the cerebellum. The ultrasonographic examination of the thyroid gland showed multiple nodules in the both lobes of the thyroid gland, which were mostly echogenic. Few cysts were also seen within the thyroid with internal finger like solid projections showing increased vascularity (intracystic papillary mass) which gave the impression of multinodular goiter []. Similarly, the Tc-99 m pertechnate thyroid scintigraphy scans were suggestive of euthyroid multinodular goiter with a dominant cold nodule present at the lower pole of the right lobe of the thyroid gland. The FNAC from the thyroid gland yielded blood mixed aspirate and showed occasional groups of follicular epithelial cells in the background of abundant colloid giving impression of multiple colloid nodules in the thyroid gland.\nThe Ultrasonography examination of breast showed multiple nodular cystic areas bilaterally suggestive of fibroadenomas which were confirmed by FNAC and miscroscopy while a cystic area with nodular solid component eccentrically originating from the walls occupying more than 50% of the cystic lumen was seen at a single area in the left breast which was suggestive of intracystic complex mass [ and ]. Ultrasonography of the left palm showed 12 mm × 9 mm sized mildly hypoechoic lobulated nodule with internal arterial and venous vascular channels suggestive of arterio-venous malformation.\nThe digestive endoscopy of the stomach and the duodenum revealed multiple polypoid lesions having smooth overlying mucosa. Some of them were hyperplasic; some were sessile while others were adenomatous, fibroid like. These were randomly distributed throughout the stomach and duodenum, mostly measuring less than 1 cm in diameter [].\nHistopathology from the sections taken from the lower lip and tongue revealed hyperkeratinized stratified squamous hyperplastic epithelium with no inflammatory evidence in the connective tissue suggestive of epithelial hyperplasia [].\nMultidisciplinary approach was followed and various opinions were taken from gynecologists, gastroenterologist, general surgeon and oral pathologist. Patient is under regular follow-up and care.