Newborn transient patterned hyperpigmentation and anophthalmia
Por:
Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Rodriguez-Uribe, Genaro
Publicada:
1 may 2020
Categoría:
Pediatrics, perinatology and child health
Resumen:
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.
Filiaciones:
Inst Oftalmol Conde Valenciana, Dept Genet, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Estudios Super Iztacala, Dept Genet & Biol Mol, Tlalnepantla, State Of Mexico, Mexico
Univ Autonoma Baja California, Fac Med & Psicol, Campus Tijuana, Tijuana, Baja California, Mexico
All Open Access; Bronze
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