Diagnosis: Tuberous sclerosis
Description: A white macule present since birth
Morphology: Papules,skin coloured
Site: Trunk
Sex: M
Age: 8
Type: Clinical
Submitted By: Ian McColl
Differential DiagnosisHistory:
Case of Dr S Malik
An 8yr boy, presented with history of mental retardation, siezures and small papules on face and nose.
On complete skin examination, a whitish patch and few macules were found on his back.
His mother ( normal in intellect) said she had similar lesion on nose and face which she had removed by electrocautery many yrs ago. She complained of the development of many small growths around her toe and finger nails since few yrs, which she had ignored.
Attaching pics of the child, and the mothers hands and feet
I think enough clues for a dignosis
Yes...It is Tuberous Sclerosis, or Tuberous Sclerosis Complex (TSC) a rare multi-system genetic disease . A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease.
This patient had Facial angiofibromas ("adenoma sebaceum"): A rash of reddish spots or bumps, which appear on the nose and cheeks in a butterfly distribution. They consist of blood vessels and fibrous tissue. in a butterfly distribution, ash leaf macules( though I totally agree with Dr Chris regarding...What are ash leaves...never seen them though they seem to be leaves of some enchanted forest trees!
His mother had periungal fibromaslso known as Koenen's tumors, these are small fleshy tumors that grow around and under the toenails or fingernails and may need to be surgically removed if they enlarge or cause bleeding. These are very rare in childhood but common by middle age.