A syndrome in the group of poikilodermias, with complex ecto- and mesodermal development disturbances. With skin changes identical to those observed in Rothmund's syndrome, this disturbance is characterized by telangiectasia, pigmentation, ocular lesions, and bone deformities. Considered a peculiar form of Rothmund-Thomson syndrome, without cataract and hypogonadism, but with increased UVA light sensibility. Inheritance is autosomal recessive. Female children are most frequently affected. There appears to be a familial tendency; consanguinity was demonstrated in six cases described by Sexton in 1954.
The syndrome was first reported in 1868 in an isolated Alpine village by August von Rothmund. It was next described in 1923 by Thomson, who probably did not know of Rothmund’s publication. In 1936 Thomson gave more comprehensive account of the condition, using the title poikiloderma congenitale. The eponymic designation "Thomson's syndrome” was suggested by Rook and Whimster who collected 11 cases in 1949.
- M. S. Thomson:
A hitherto undescribed familial disease.
British Journal of Dermatology, Oxford, Supplement; 1923, 35: 455-462. Poikiloderma congenitale.
British Journal of Dermatology, Oxford, 1936, 48: 221.