GP Quiz 7 - Case 1.
An 11-year-old girl presents with increasing numbers of erythematous papules on her cheeks. There has been no improvement with oral tetracycline and topical benzoyl peroxide gel. She is otherwise well.
What are these lesions called?
The preferred name for the lesions is "angiofibromas" but the condition was previously referred to as "adenoma sebaceum".
What underlying systemic disorder does she have?
Tuberous sclerosis (also known as epiloia) - an autosomal dominant neurocutaneous disorder affecting skin, brain, eyes, heart, kidney, lungs and bones. Many patients suffer from seizures and mental retardation, but they may be of normal intelligence.
What other cutaneous signs may be associated?
The cutaneous signs of tuberous sclerosis include:
Angiofibromas. These are seen in 90% of cases and develop on nasolabial folds, cheeks and chin from childhood.
Ash-leaf macules. One or more hypopigmented macules are present at birth in 80% of cases. In fair-skinned individuals, they can be seen more easily using a Wood's light.
Shagreen patch (connective tissue naevus). One or more flesh-coloured thickened plaques are found on the lower back of the majority of cases and arise in early childhood.
Koenen's tumours (periungual fibromas).
Facial fibromas are less common.
Nonspecific findings include café-au-lait spots, white freckles on the shins and diffuse bronzing.
This quiz was originally published by ADIS International in December 1999