Introduction:

Incontinencia pigmenti is a rare genodermatoses with dominant inheritance linked to X chromosome that occurs almost exclusively in women.

Objective:

To report a case of family incontinentia pigmenti (mother and daughter), which is a systemic neuroectodermal disorder rare in pediatrics.

Case presentation:

Female infant referred from the neurology service to the dermatology specialist in “William Soler” Hospital due to alterations in the psychomotor development and epileptic seizures with hyperpigmented vegetative lesions that follow the Blaschko lines. In the mother, atrophic lesions were detected with a similar distribution.

Conclusions:

This rare disease should be suspected by rash that follows the Blaschko lines, usually present at birth and that develops in characteristic consecutive stages. We emphasize the importance of genetic counselling in order to prevent future generations to be affected, as well as the multidisciplinary management in this genodermatoses.

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