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Genetics for Dermatologists: The Molecular Genetic Basis of Dermatological Disorders
  1. F M Pope

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    Sherri J Bale. (£25, $40.) London: ReMEDICA Publishing. 2000. ISBN 0 901346 10 2

    Published by ReMEDICA of London in 2000, this is a short guide to the molecular genetic basis of dermatological disorders. The book is one of a similar series covering cardiology, haematology, and dermatology, with others planned for endocrinology, oncology, ophthalmology, and rheumatology.

    Printed mostly in double page format, the book is separated into seven subsections, covering disorders of cornification, especially disorders of keratin and related epidermal structural proteins, such as the demogleins, loricrin, etc, most of which Dr Bale has researched. Other sections include various cancer associated disorders, bullous, pigmentary, epidermal appendageal, dermal disorders, such as Ehlers-Danlos syndrome, and mixed metabolic disorders, such as the porphyrias, premature ageing disorders, etc. A minor grouse is the author's impression that genetic dermatology was only born in 1991. It was certainly very much alive and kicking in R S Wells's group almost 30 years earlier, although admittedly recombinant DNA did not materialise in the field until the 1980s. Long before that, however, various of the chosen disorders had been illuminated by very sophisticated protein separation, enzyme assay, or electron microscopical analysis, as well as traditional pedigree analysis.

    Individual sections are organised by eponym, MIM number, clinical features, age of onset, inheritance, chromosomal location, genes responsible, mutational spectrum, diagnosis, and counselling issues. These are generally mutually exclusive, but sometimes overlap significantly. Eighty-six genetic diseases are included, of which 29 are illustrated. Of these, only occasional pictures, such as Hermansky-Pudiak syndrome, ectrodactyly, and porphyria cutanea tarda, were of the standard expected. The majority were generally too small, indistinct, or non-specific to be diagnostically useful. Examples of the latter group include epidermolytic and non-epidermolytic palmoplantar keratoderma, which were too similar to separate, although histologically they would have been. Similarly, the illustrations of EB simplex and severe dystrophic EB do not clearly show the tense superficial bullae of the one, nor the severe crippling and distortion of the other. Similarly, the vascular EDS IV illustration does not show the crucial epidermal atrophy, acral features of the disease.

    Competitors of this book include McKusick's Catalogues (still the gold standard text) and sections within large textbooks (such as the 6th edition of Rook's Textbook of Dermatology, which is just as informative, better illustrated, and more logically organised by chromosomal location). Both of these two volumes are very bulky, unlike the alphabetically organised Illustrated Dictionary of Dermatologic Syndromes, which is famously succinct, portable, and very informative, although now over seven years old.

    So much for the weaknesses. The strengths of Genetics for Dermatologists include topicality, portability, a reasonable price, and up to date information on gene structure and function. It would be a useful addition to the shelves of aspiring dermatological geneticists and general geneticists with interests in dermatology. At £25 ($40) it is slightly expensive for its 230 pages, but still reasonable value for money.

    Priority considerations for the 2nd edition would include larger, clearer, and more comprehensive illustrations, a loose leaf format with the option for continued updating, more details of gene structure and comparative properties of non-allelic variability (as in neurofibromatosis and tuberous sclerosis), and genotype-phenotype correlations of individual genes such as collagen type VII and EB dystrophica. Similarly, succinct comparative tables of the keratin pairings would be very useful. Last but not least, the names and addresses of key UK, USA, and European gene and/or protein electron microscopists would be extremely useful where pertinent to disorders of keratin, pigmentation, matrix proteins, enzyme assays, etc. No doubt this would greatly facilitate the task of those non-experts to whom the world of www and general internet access is still foreign, puzzling, or unavailable.

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