Multiple hamartoma syndrome. A report of a new case with associated carcinoma of the uterine cervix and angioid streaks of the eyes.
Multiple hamartoma syndrome is a genodermatosis with autosomal-dominant inheritance. Characteristic findings include mucocutaneous verrucoid papules, "cobblestoning" of the tongue, and hamartomas of multiple organ systems. Also reported are frequent malignancies, especially of the breast. Herein we report a case of a 42-year-old black woman with typical findings of multiple hamartoma syndrome, including an occult malignancy of the uterine cervix, an as yet unreported site of carcinoma in this syndrome. Additionally, we detail a previously unreported finding of bilateral angioid streaks of the optic fundi. Photographs displaying many of the typical features of multiple hamartoma syndrome and associated histopathology are included, along with a brief review of the literature.
D000328:Adult; D000793:Angioid Streaks / Q000150:complications / Q000473:pathology*; D005260:Female; D006222:Hamartoma / Q000150:complications / Q000473:pathology*; D006801:Humans; D008046:Lip / Q000473:pathology; D009378:Neoplasms, Multiple Primary / Q000473:pathology*; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology*; D013577:Syndrome; D014059:Tongue / Q000473:pathology; D002583:Uterine Cervical Neoplasms / Q000150:complications / Q000473:pathology*