Cowden syndrome: mucocutaneous lesions as precursors of internal malignancy.

[cowden syndrome]

Cowden syndrome is an autosomal-dominant hereditary cancer syndrome with high variability and susceptibility . It is characterized by multiple hamartomas and neoplasms of ectodermal , endodermal and mesodermal origin affecting many organs and also by the increased risk of development of internal malignancies .A 62 -year -old woman was referred to our Maxillofacial Unit with a hamartomatous mass of the left lateral tongue which had slowly grown and was obstructing normal speech and restricting oral intake . The patient had a known history of Cowden syndrome and underwent excision of the lesion under general anaesthetic .Orofacial mucocutaneous features are very common in multiple hamartoma and neoplasia syndrome with almost up to 90 % of the patients being affected . These cutaneous and mucosal lesions , which are predominantly benign , often manifest prior to the development of the internal malignant tumours associated with the syndrome .The prompt identification of Cowden syndrome 's plethoric signs and symptoms can lead to appropriate surveillance and multidisciplinary management . Oral manifestations are frequent , prominent and usually precede the establishment of malignant tumours of visceral organs ; hence , the maxillofacial surgeon or general dentist may have a significant role in the recognition of the disease . Overall prognosis is dependent on prevention or early treatment of internal malignancies ; consequently , early diagnosis together with frequent follow-up forms the cornerstone of management .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated