Snapshot diagnosis: What are those skin lesions?

Could the bumps be multiple lipomas or is there a genetic cause? Dr Mike Wyndham shares another unusual diagnosis.

The patient

This 28-year-old man greeted me, saying: ‘I know how you like skin diseases, doctor. This'll interest you.' Off came the shirt and indeed, all the bumps were plain to see. It transpires that he had consulted his previous GP who was rather puzzled but decided to leave things as it all seemed ‘pretty harmless'.

First instinct

It was certainly something pretty unique. Could he just be unlucky enough to have multiple lipomas or pigmented naevi?

Differential diagnosis

• Multiple lipomata

• Multiple naevi

• Genetic disorder

The hidden clue

Closer examination revealed that some of the lesions were not pigmented, making multiple naevi unlikely. Some of the lesions were pedunculated, which made lipomata doubtful. It had to be something else.

Getting on the right track

Having considered a genetic origin, I asked if there was anyone similarly affected in the family and indeed there was – his father.

Outcome

A diagnosis of neurofibromatosis was made. I explained that there were two types and that a geneticist might be able to differentiate between the two varieties. We discussed potential issues with the condition such as the development of brain tumours or involvement of bone.

That seemed to strike fear into the patient and he was adamant he didn't want to take things further.

Dr Mike Wyndham is a GP in Edgware, north London