Clinical genetics / edited by Arnold Sorsby.

Date:
1953
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Clinical genetics / edited by Arnold Sorsby. Source: Wellcome Collection.

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    DISEASES OF THE SKIN Heredity.—Cockayne believed that there were two types of inheritance con¬ cerned, sex-hnked recessive and dominant, which resulted in similar clinical pictures, although milder cases were also present in the dominant type. Thadani (1934) described 6 generations with only males afifected although the female hetero¬ zygotes were not always completely normal. Roberts (1929) described 10 cases, all males, in five generations; here again the female heterozygotes showed minor visible defects. Schwartz (1935) described a family in which four brothers were affected; the mother and one of her sisters lacked permanent canines; the con¬ dition was therefore incompletely recessive in the females. Severely affected females are exceptionally uncommon but have been reported; minor defects in women are not so rare. It seems possible, as Gates suggests, that the condition shows recessive sex-linkage with a variable expression and occasional manifestation in women. Benign familial pemphigus Clinical aspects.—This rare bullous disease was first described by Gougerot in 1933 and later by Hailey and Hailey. The eruption occurs most commonly on the neck, in the axillae and in the groin, and is usually preceded by some irritation or burning sensation. The exciting factors are pressure, friction and heat, which explains the localization of the lesions. The eruption is worse in hot weather and is free from serious complications. Patients suffer from it off and on for many years. Histology shows intra-epidermal cleft formation, leading to the appearance of vesicles and bullae. This cleft may be seen microscopically after apparently normal skin of affected patients has been vigorously rubbed a few times. There is dyskeratosis and acantholysis, and rounded acantholytic cells line the cleft and 214