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Boletín médico del Hospital Infantil de México
versão impressa ISSN 1665-1146
Resumo
CHACON CAMACHO, Oscar F.; ARCE-GONZALEZ, Rocío e RODRIGUEZ URIBE, Genaro. Newborn transient patterned hyperpigmentation and anophthalmia. Bol. Med. Hosp. Infant. Mex. [online]. 2020, vol.77, n.3, pp.146-148. Epub 25-Set-2020. ISSN 1665-1146. https://doi.org/10.24875/bmhim.19000191.
Background:
Transient pigmentary lines of the newborn are uncommon cutaneous lesions of unknown etiology. To date, only a few cases have been described.
Case report:
A patient with a combination of transient pigmentary lines and ocular malformation is described. Molecular analysis of the SRY-box 2 (SOX2) and MIFT genes was conducted to rule out any monogenetic etiology.
Conclusions:
Worldwide, this is the eighth case of transient pigmentary lines of the newborn reported, and the first associated with anophthalmia. No mutations in the analyzed genes (SOX2 and MIFT) were identified. Therefore, somatic mutations could be responsible for this anomaly.
Palavras-chave : Transient pigmentary lines; Lineal skin hyperpigmentation; Anophthalmia; SRY-box 2; MIFT.
