Tuberous sclerosis

• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z

Tuberous sclerosis, angiofibromas - face

Tuberous sclerosis, hypopigmented macule

Adenoma sebaceum

• Ash leaf spots on the skin and, less often, cafe-au-lait spots
• Shagreen spots on the skin -- if present, likely on the back
• Red, highly vascular lumps on the face (adenoma sebaceum)
• Mental retardation
• Seizures
• Rough growths under or around fingernails and toenails
• Pitted dental enamel
• Kidney tumors

• Examination of the eyes may show retinal abnormalities, pale patches, and mulberry, phakoma or astrocytoma tumor.
• There may be some indications of heart abnormalities, including abnormal heart rhythm (arrhythmia) or a tumor (rhabdomyoma) on ultrasound.
• An MRI of the head shows tumors or benign "tubers" in the brain.
• A CAT scan of the head may show calcium deposits in the brain.
• The mouth may show rubbery growths on the tongue or gingiva.
• Ultrasound of kidney may show cysts, fatty benign tumors, or serious tumors.
• Ultraviolet light examination of the skin may show ash leaf spots not visible in ordinary light.
• There may be a family history of the condition. Genetic testing for either of the two genes that can cause this disease (TSC1 or TSC2) may be available.

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.