Coffee and milk spots in children: how to recognize if they are "cravings" or neurofibromatosis

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Philippe Gloaguen
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Fonte: Alamy

Maya El Hachem, head of the Dermatology Operative Unit at the Bambino Gesù Children's Hospital in the city, explains what children's café au lait spots are, how to recognize if they are 'cravings' or neurofibromatosis and what to do.

What are the café au lait spots that are seen on some children's skin?

There are skin manifestations slightly darker than the surrounding skin color, which may appear as early as birth or within the first few years of life. They vary in size from a few millimeters to a few centimeters, with regular or irregular margins, with a rounded, oval or variable shape. They are mainly located on the trunk and limbs and generally do not exceed 2-3 units. (Read also: Exanthematous diseases, symptoms and treatments)

How have coffee stains evolved over the years?

They may slightly increase in number and size in the first years of life; otherwise they have no evolution and do not require medical checks, as they do not cause any problems.

What is neurofibromatosis instead?

La neurofibromatosis it is a genetic disease that often involves only the skin and, less frequently, other organs and systems, such as the eyes, central nervous system and bones. (Also Read: 23 Illnesses Parents Should Know About)

How does neurofibromatosis manifest itself and how is it distinguished from café au lait spots?

In the initial phase, neurofibromatosis manifests itself with coffee and milk spots, but has characteristics that totally differentiate it from simple spots:

• first of all their quantity: in the first months / years of life, at least 6-7 scattered brownish spots appear, which progressively increase in number;

• around the school age, freckles appear in correspondence of the armpits and / or groin;

• towards adolescence, true neurofibromas form, that is, small swellings often detected with a healthy skin color, sometimes with some telangiectasia, or with some visible capillaries on the surface, and when touched there is a sensation of "sac empty ”, that is, as if the skin were emptying.

What complications can neurofibromatosis cause?

If it involves only the skin, as happens in prevalence, neurofibromatosis is limited to a more or less mild aesthetic discomfort. If it also involves other organs, complications depend on the location of the organ: vision problems if it affects the eye, scoliosis or other deformities if it involves the bones, psychological and cognitive retardation if it affects the central nervous system. Precisely for this reason the disease must be kept under control with annual monitoring, to identify other locations in time. (Read also: Ichthyosis in children)

How common is neurofibromatosis?

It affects about 1 child in 3000. Often it is dominant, that is it is inherited from a parent, other times it is a "de novo" mutation that is the first case in the family.

How neurofibromatosis is treated or managed.

There is no cure for the disease: if necessary, the symptom is treated, for example with the surgical removal of the fibroid, interventions for scoliosis or psychological and cognitive support. Medical therapies are being studied, but they are still in an experimental phase.


23 Child Diseases Parents Should Know About

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Although much has been done in terms of prevention and treatment, childhood diseases remain a fact of life. Some are common and harmless, others rare and dangerous. The site...

  • coffee stains
  • neurofibromatosis
  • 1-2 children years
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