Simple cases

No image for NaN

Case 40


Yes, my father has about the same thing, but many fewer bumps than I do.

Good question. These lesions are usually a sign of a genodermatosis. In this case, there is variable expressivity.

My maternal grandfather is supposed to have died young with cancer, but I don't know any more.

This disease is also associated with malignancies.

No, my eyes are fine.

There are clues to the diagnosis of this disease present on the iris (Lisch nodules), and there may be ocular signs and symptoms.

No, I was fine.

These tumors are not caused by exogenous factors. The question is not useful.

They don't hurt or itch, if that's what you mean. But they look terrible. I have to always keep them covered out or everyone looks at me as if I had something awful.

These lesions can occasionally itch severely, but are usually asymptomatic. The social impact of such lesions can scarcely be underestimated; it is overwhelming.

No, I have never been in the hospital.

Sometimes there are other systemic problems. In addition, these patients may have problems with some types of anesthesia.

Choose the right efflorescences:

These lesions are all papules or if larger nodules. They are soft and can be pushed back into the subcutaneous tissue (doorbell phenomenon)

The large tan spots are café-au-lait macules ; more than five should suggest this diagnosis.

Hives are transient lesions.

An ulcer is a deep defect in the skin which heals with scarring. None is seen here.

Choose the right diagnosis:

A deep fungal infection could produce nodules but they would be inflamed. The long history also does not fit.

A single such lesion can be confused with a pedunculated melanocytic nevus with little pigment. So many such nevi simply do not occur. Dermatoscopy also helps in quickly separating the two.

This is one of the most common genodermatoses; the two classic skin findings are café-au-lait macules and multiple neurofibromas (the papules).

The long history and the soft nature of the tumors both do not fit.

Choose the right therapy(ies):

If a lesion is painful or cosmetically-disturbing, it can be excised. The neurofibromas are nerve sheath tumors, so sometimes a nerve may be damaged in surgery, producing a numb area.

Genetic counseling is essential and prenatal diagnosis is possible in some cases. But the disease is so variable, that it is impossible to predict what the future holds for an affected fetus.

These malformations do not respond to chemotherapy.

The café-au-lait macules have no malignant potential and only large deep neurofibromas can rarely show malignant degeneration. Theis routine surveillance brings little.

Mark article as unread
Article has been read
Mark article as read