Identification of White sponge nevus syndrome.

A search of gynecological and literature revealed very little about white
sponge naevus in the genital area. This disease was first reported by Hyde in
1909, but the term *white sponge naevus* was detailed in 1935 by Cannon.
White sponge naevus is a rare, benign, autosomal dominant disorder, with no sex
predilection. It predominantly affects nonkeratinizing stratified epithelia
such as the oral mucosa. However, less frequently it has reported to rarely
involve extra-oral mucosal sites including the genital, laryngeal and
esophageal mucosal.
Proper evaluation for a correct diagnosis is of utmost importance. Clinical and
family history can be helpful in contributing to the correct diagnosis of WSN.

We would like to report a case of an extra-oral manifestation of a White Sponge
Nevus (WSN). The purpose of this study was to document a family spanning 6
generations with WSN.
It is important to recognize to allow for appropriate genetic counseling of
this autosomal dominant disorder and to avoid misdiagnosis leading to
ineffective treatment or potentially adverse side effects of unnecessary
medications and patient dissatisfaction over failure to achieve a therapeutic
response.

To objectify if these family members with WSN have a DNA-mutation in the
keratinine 13-gene (KRT13).

It is uncertain if WSN is premalignant. Is it necessary to perform a yearly
routine checkup to detect an early stage of malignancy?

Family members will be informed about the possibility of predicitve
DNA-research through letters.
Information about the opportunity to take part in this study will be given.

To conduct this rsearch:
blood will be aquired for research after written permission. If the subject
does not want to know the result, the results will not be announced to them or
their other treating physicians. The result of the DNA-test will be send to dr.
FJ Hes. There will be no costs for participating in this study. Subjects can
leave the study at any time for any reason if they wish to do so without any
consequences. The DNA may, if desired, be destroyed.

To collect clinical information:
after written permission of the family members clinical information will be
acquired through an informational letter used in the clinical genetic practice.

Mucous membane tissue:
a consultation will take place at the gynaecologist (prof. dr. Peters) if the
subject gives permission. A cervix smear can be done if the subject agrees on
it. A consultation will tak place at the dermatologist (prof. dr. Vermeer) to
inspect the oral cavity on mucous abnormalities.
The subject will be asked for permission to take professional pictures from the
mucous abnormalities and to publish the pictures for scientific purpose. The
subject will remain anonymous on the picture.
Clinical information and tissue material of previous examinations will be
requested after written permission of the subject.

The DNA-test of the KRT-13 will be supervised by prof. dr. Bakker, head of the
department of laboratory diagnostic genome analysis. (LDGA). The consultations
will be performed onder supervision of dr. Hes.

Collaborator who may be consulted by the subjects and who is not involved in
the implementation of the protocol: dr. CJ. van Asperen, department of Clinical
Genetics, LUMC.

The subjects will receive a questionnaire and an invitation for an informative
meeting. If they give permission to participate in this study, they will be
asked to withdraw a sample of blood. Inspection of the oral cavity will be
performed. Cervix smear usually takes place during screening. A consultation
and a pap smear test at the gynaecologist will be offered.
The subject are not at risk.
Given the limited exposure to the subject it seems to us that to conduct in
this research is justified.