A potentially useful mnemonic for tuberous sclerosis is HAMARTOMAS: Hamartoma, Adenoma sebaceum, Mental retardation (now properly referred to as intellectual disability), Ash leaf spots, Rhabdomyoma, Tubers, Optic hamartomas (phakomas), Mitral regurgitation, Astrocytomas, Seizures.
What is ash leaf spots?
Hypopigmented macules, also known as “ash-leaf spots,” can be present at birth and are most common on the trunk and lower extremities. They appear in 80 percent of persons with tuberous sclerosis by one year of age. Thus, they are the earliest indicator of this disorder.
How do I know if I have tuberous sclerosis?
Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
What do ash leaf spots look like?
These present as hypopigmented off-white coloured macules 1–3 cm in size, predominantly over trunk and buttocks. Their shape may vary, classical lesions are ovoid or leaf shaped hence their name. Other morphological patterns include confetti-like, thumb print shaped or segmental lesions.
Which tumor is associated with tuberous sclerosis?
The central nervous system is frequently involved in individuals with tuberous sclerosis. Central nervous system tumors can include subependymal nodules (SENs), cortical dysplasias, and subependymal giant cell astrocytomas or SEGAs.
Do ash leaf spots grow?
If present, they are nearly always found on or around the lumbar region of the back. They typically first appear before or around puberty, but are sometimes seen in children as young as six months old. The patches may increase in number over time and typically grow in proportion to body size until adulthood.