|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Rothmund-Thomson syndrome
Also known as:
Bloch-Stauffer syndrome
Bloch-Stauffer dyshormonal syndrome
Rothmund dystrophy
Rothmund syndrome
Thomson-Rothmund syndrome
Associated persons:
Bruno Bloch
August von Rothmund, Jr.
Hans Stauffer
Matthew Sydney Thomson
Description:
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.
Bibliography:
- 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.
|
|
|
