ABSTRACT
Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.
Subject(s)
Adolescent , Female , Gingival Neoplasms/diagnosis , Hamartoma Syndrome, Multiple/diagnosis , Humans , Mouth Mucosa/pathology , Mouth Neoplasms/diagnosis , Papilloma/diagnosis , Tongue Neoplasms/diagnosisABSTRACT
Blue rubber bleb nevus syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. Oral cavity lesions occur in 59 to 64% of cases. We report a unique presentation of this syndrome in a 25-year-old male patient with prominent oral findings. This is a sporadic case, started during early childhood, progressively increasing in number and size. Oral vascular lesions were part of gastrointestinal involvement. Associated cardiac abnormalities were also observed. An early diagnosis of this syndrome is required as it gets complicated with bleeding, anemia and other systemic complications.