CAN MALES HAVE INCONTINENTIA PIGMENTI?
As stated above, males have only one X
chromosome. If the IP gene on a male's only X chromosome is
severely damaged, males cannot survive. A healthy version
of the NEMO gene is apparently so critical to life that a
nonfunctional version in males causes death before or
shortly after birth.
There are, however, several cases of males diagnosed with
IP. These individuals typically manifest IP due to carrying
an extra X chromosome (XXY) or to being mosaic for both XY
and XX cells. These cases can be confirmed through testing
for NEMO mutations. Some mutations in NEMO manifest in
disorders in males that are different from IP. These males
are often characterized as having ectodermal dysplasia
and/or immune deficiencies.
There is disagreement among researchers and clinicians as
to whether these boys really have IP, or, do they have a
similar disorder that closely resembles IP. One of the
benefits of identifying the gene, is that these males can
now be definitively diagnosed and it can be determined if
they do indeed have IP. Early findings with the NEMO gene
suggest that males with features of IP may have more subtle
mutations that cause their symptoms.
Several articles have been written and are available
through the Foundation about males with IP.