Cause:Genetic, two genes: TSC1 on chromosome 9 producing humartin, and TSC2 on chromos 16 producing tuberin; autosomal dominant
Pathophys:Large hamartomas of brain, skin, et al. White spots due to decreased synthesis of melanin, but since there is a normal number of melanocytes, they are not vitiligo
Sx:Epilepsy, mental retardation in some
Si:Peri/subungual fibromas especially of toenail; angiofibromas of face (adenoma sebaceum), may look like acne without blackheads; hypopigmented macular patches ("ash leaf" macules or "white confetti") on the legs, best seen under Wood's lamp (Nejm 1998;338:1887), especially at birth, are 1st si; collagenoma of lower back skin looks like pig skin; mulberry tumors in fundus; pitted tooth enamel
Seizures (75%); renal failure due to angioleiomyoma and angiomyolipomas on ultrasound and CT (Nejm 1998;338:1886); honeycomb lung; rhabdomyosarcoma of heart (Nejm 1967;276:957); hamartomas throughout body