Incontinentia pigmenti in male patients

Incontinentia pigmenti (Síndrome de Bloch- Sulzberger) en un paciente varón. Reporte de un caso

“…La supervivencia de los casos varones reportados tiene tres posibles mecanismos; presencia de cariotipos anormales; mutaciones hipomórficas y el mosaicismo (3). Desconocemos cuál de estos mecanismos presentó el paciente pues no se le realizó un estudio genético; aunque estudios demuestran que la explicación más probable de supervivencia en los pacientes masculinos es el resultado de mosaicismo somático por una mutación post-cigótica que se produce durante la etapa de blastocisto de la embriogénesis (10).…”

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

“…It is lethal in males, resulting in an observed female-male ratio of 37：1 4 . IP has been observed, albeit rarely, in males with somatic mosaicism, Klinefelter syndrome (47, XXY), and hypomorphic alleles 6 .…”

A Case of a Surviving Male Infant with Incontinentia Pigmenti

“…The major cause of IP is loss-of-function mutation of NEMO protein, most consisting of a deletion of exons 4∼10 in heterozygous females 3,10 . The gene mutated in IP is mapped to Xq28 and encodes the NEMO.…”

“…The third is the most reliable explanation for the survival of male patients. It results from a postzygotic mutation occurring during the blastocyst stage of embryogenesis and does not completely abolish NF-κB activity, which allows survival [3][4][5]14 . Thus, the presence of somatic mosaicism results in mild features of known genetic disorders, and better outcomes afterward 15 .…”

“…IP predominantly affects female infants (in excess of 37：1), and is usually lethal in males in utero 1,2 . The survival of affected males is attributed to the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism [3][4][5] . Only two cases of IP in male infants without karyotype study have been reported in the Korean dermatologic literature since 1982 6,7 .…”