A rare hereditary oculocutaneous disorder with erythema, marble skin, pigmentation, telangiectasia, congenital cataracts, defective nails and teeth, partial to total alopecia, short stature, and congenital bone defects; skeletal defects may be present in the extremities; in about 25 percent of cases, hypogenitalism. It usually begins in early childhood and is often observed in siblings. Prevalent in females (2:1). Incomplete forms may occur. Only few cases described. Inheritance is autosomal recessive.
In 1868 Rothmund published an account of a familial syndrome of cataracts, depressed nasal bridge and skin hypertrophy in an inbred community in a remote Alpine village. In 1923 and 1936 Matthew Sydney Thomson reported a similar disorder which he designated "poikiloderma congenitale".
There has been controversy as to whether Rothmund’s and Thomson’s are the same, but the conjoined eponym Rothmund-Thomson is now generally accepted, with Thomson’s syndrome regarded as a peculiar variant without cataract and hypogonadism, but with increased UVA light sensibility. Thomson probably did not know of Rothmund’s publication. Rothmund(-Thomson) and Werner's syndrome are frequently linked together.
- A. von Rothmund, Jun.:
Über Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration.
[Albrecht von Graefes] Archiv für Ophthalmologie, 1868, 14: 159-182.
- 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.
- B. Bloch, H. Stauffer:
Skin disease of endocrine origin (dyshormonal dermatosis).
Archives of Dermatology and Syphilology, Chicago, 1929, 19: 22-34.