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2019, Number 4

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Acta Pediatr Mex 2019; 40 (4)

Pigmentary mosaicism type hypomelanosis of Ito with hemimegalencephaly

Zamudio-Martínez G, Zamudio-Martínez A, Hernández-Arriaga P, Luna- Macías VB, Rizo-Jiménez A

Language: Spanish
References: 12
Page: 282-289
PDF size: 693.22 Kb.


ABSTRACT

Background: The pigmentary mosaicism of the hypomelanosis of Ito type is a low prevalence neurocutaneous syndrome characterized by hypochromic lesions in the skin, affecting two or more corporal segments, in association with malformations in the central nervous system, musculoskeletal system, as well as other organs and systems. In contrast with the other neurocutaneous syndromes with well described inheritance patterns, the pigmentary mosaicism Ito type does not have any type of inheritance, being its most common presentation the sporadic one. This disease affects 1 out of 7,500 newborns, with a mild predominance in females.
Clinic case: We present the case of a 4 month old male patient who, since birth, was noted to have hypochromic skin lesions in association with a drug resistant epilepsy, as well as imagenological findings such as hemimegalencephaly and agiria-paquigiria complexes, evoquing the possible diagnosis of a neurocutaneous syndrome, which was later confirmed as a pigmentary mosaicism or the hypomelanosis of Ito type, using the diagnostic criteria of Ruiz Maldonado, complemented with the histopathological findings in the cutaneous biopsy.


REFERENCES

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