ARTICLE
ReMEDICA Publishing, London 2000, 230 pages. £
25.00 or $ 40.00 (euros 40)
This little book is quite different from all others available in the
field of genodermatology. For example, I was initially startled by the
fact that there is not a single reference given in the text. When using
the book, however, this deficiency turns out to be an advantage because
you have to check concomitantly your web sites anyway, especially OMIM
and Pub Med.
Each entity is presented according to a consistent structure, including
synonyms, MIM number, clinical features, age of onset, epidemiology, mode
of inheritance, chromosomal location, description of the gene or gene
product. I found the subjects "mutational spectrum" and "effect of mutation"
especially interesting. A paragraph entitled "diagnosis" informs the reader
whether clinical and histological features are sufficient, or whether
a molecular diagnosis should be considered. The last paragraph deals with
counselling issues. The book contains only minute figures.
A great advantage of this text is its simplicity, which renders it especially
useful for the busy practitioner who may nowadays have the feeling, when
reading an encyclopaedic molecular genetic text, that it is a telephone
book written in Chinese. On the other hand, this little book demands some
basic clinical knowledge. If the reader wants to be informed on the modern
genetics of let us say monilethrix, he will find no index leading him
to this item. Rather, he has to be clever enough to look in chapter 5,
"Disorders of epidermal appendages".
Surprisingly, this book contains some rather naive approaches to classification.
Why does the author distinguish between "epidermolytic hyperkeratosis"
(MIM 113 800) and "linear epidermolytic nevus" (MIM 163 200)? Such distinction
between diffuse and mosaic forms would likewise be possible in many other
autosomal dominant skin disorders such as Darier disease or neurofibromatosis
1. The author still proposes the synonym "Unna-Thost disease" for non-epidermolytic
palmoplantar keratoderma although it is clear today that Thost has described
the epidermolytic type. The incorrect term "keratoderma striata" can be
explained by the fact that the word "keratodermia" is difficult to pronounce
in English, and "keratoderma striatum" would likewise be difficult. The
result is a pronounceable pidgin Latin.
The item "cutaneous malignant melanoma" is out of place in this book.
Dr. Bale classifies its mode of inheritance as "autosomal dominant" but
indicates 3 different chromosomal loci. For example, psoriasis or atopic
dermatitis could have been included with the same justification. Another
debatable point is the inclusion of hypomelanosis of Ito. Paradoxically,
this book states that "autosomal dominant inheritance has been described
in some families". The concept of paradominant transmission is not discussed,
and this makes the counselling issues regarding this mosaic pattern rather
ambiguous.
The last chapter entitled "glossary" is especially useful. It contains
a list of abbreviations, a guide of the way from the karyotype down to
DNA sequences ("a matter of scale"), a description of the properties of
DNA, and a comprehensive list of explanation of terms. In this chapter
the author is in her proper element and delivers a didactic masterpiece.
For the dermatologist interested in the genetic implications of his
speciality, this book can be best categorized as an appetizer. It reflects
the tremendous advances in genodermatology and will certainly help to
enhance further this progress. When used together with an online program
it is very helpful and recommendable.
Rudolf Happle
Dept of Dermatology ; University of Marburg
Deutschhausstr.9 ; D-35033 Marburg
Tel : (+49) 6421 282 6820 - Fax: (+49) 6421 286 2902
e-mail: happle@mailer.uni-marburg.de
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