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Genodermatoses: Genetic Counseling

and Prenatal Diagnosis

Prenatal diagnosis (PND) has become technically possible in cases where there is at high risk of severe genetic
disease, thanks to recent advances in molecular biology and diagnostic technology. In dermatology, PND of
severe skin diseases can be performed at the request of the parents. However, genetic counseling should be
thoroughly and carefully made from the ethical point of view, and patients and their families should be provided
with accurate information on the diseases. It is important to remember that the final decision of confirmation of
pregnancy should always be left to the client. This chapter compiles genodermatoses and their causative genes
and proteins, and introduces the latest advances in PND, genetic counseling and gene therapy.

A. Genodermatoses
Outline
The

term genodermatoses tends to refer to monogenic

diseases.
In recent years, the causative genes and proteins have
been identified for many genodermatoses.
MEMO
Updated information of
the human genome and genetic
diseases

What are genodermatoses?

Genodermatoses usually refers to diseases caused by monogenic abnormality. This textbook addresses genetic diseases separately in terms of their clinical features: It describes ichthyosis
in the chapter on keratinization, epidermolysis bullosa in that on
blistering diseases, and oculocutaneous albinism in that on disorders of skin color.
The human genome project, which was completed in 2003,
mapped and sequenced the 3 billion nucleotides in the human
genome to identify all human genes. It has been clarified that the
human genome consists of 22,000 genes, which produce about
100,000 proteins. Accordingly, almost all of the genes and proteins that are responsible for monogenic diseases including genodermatoses are being clarified. The major genodermatoses and the
causative genes and proteins that have been identified so far are
shown in Table 29.1.
Nevertheless, the pathogeneses of multifactorial genetic diseases, such as psoriasis vulgaris and atopic dermatitis, have not
been fully resolved. These diseases are not usually referred to as
genodermatoses. The genes that are associated with the onset of
these diseases are called disease-related genes or predisposing
factors; their importance to the disease is considerably different
from that of monogenic causative genes for genodermatoses.

The pathological conditions of genodermatoses are being clarified every day, and
what was once common knowledge is no
longer enough in responding to patients and
their families. Fortunately, improvements of
information technology, including the Internet, have contributed to the spread of up-todate information on the human genome and
genetic diseases. This information is now
available for free to anyone.
The National Center for Biotechnology
Information (http://www.ncbi.nlm.nih.gov/)
The site provides updated information on the
Human Genome Project.
Online Mendelian Inheritance in Man
(OMIM) (http://www.ncbi.nlm.nih.gov/entrez/
query.fcgi?db=OMIM/)
Six thousand human Mendelian disorders and
their characteristics are listed. The latest
information and documents on diseases
caused by genetic mutation, gene maps and
images are available. The diseases are categorized and numbered as a matter of convenience. For example, autosomal dominant
inherited diseases are designated by numbers
from 100,000, autosomal recessively inherited
diseases by numbers from 200,000, X-linked
inherited diseases by numbers from 300,000,
and mitochondrial inherited diseases by numbers from 500,000. Clinical conditions caused
by genetic mutation are compiled separately
in clinical synopsis.

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Genodermatoses: Genetic Counseling and Prenatal Diagnosis

Table 29.1 Main genodermatoses and their causative genes and proteins.






 














 


















 
 









 














 











 















 















 




 























 













 
 





















  






 





















 






 



































 
 















 





















 



























 



















 
 












































 
 























 














  





























 
 




























 
 



























 
 



































 












 







 











 

 
 
 































 































































 
 
 








































 


































































 






 


















 
 
 






 

























































 









 














































 


















































 





 















 









 



 




 
 





 
 




























 







































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A. Genodermatoses

511

Table 29.1 Main genodermatoses and their causative genes and proteins (cont.).















 















 








 










 
 









 








 







 










 
 








 






 

 
 
































 























 



 



 
 





 


















 
 
 







































 
 






































 











































































 








































 



























































 

 
 
 




















 







 



 








 









 



 



 
 
 







 



 
 











 





































































 
 
 
























 







 










 


 





















































 
































































































 

































AD: autosomal dominant inheritance, AR: autosomal recessive inheritance, XR: X-linked recessive inheritance, SD: semidominant

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