A M A Archives of Dermatology · 1957 · 124 citations · 5 references
MedicineOphthalmologyPediatricsOcular DiseaseOcular PathologyPediatric OphthalmologyCongenital CataractCongenital Eye AnomaliesLens DisordersPediatric Eye DiseasePediatric Vision DisordersChildhood Vision DisordersCongenital Cataract SyndromesDevelopmental Eye DisordersInherited Ocular DisordersOphthalmologic FindingsOphthalmologic ManifestationsRothmund-thomson Syndrome
In 1868, in the ophthalmologic clinic at Munich, August Rothmund<sup>1</sup>saw a 5-year-old boy with a cataract in one eye, and a peculiar marmorization of the skin. Several weeks later a cataract developed in the other eye. Two other children living in the same isolated area in the Bavarian Alps were seen with cataracts and the peculiar ``degeneration'' of the skin. Because the parents assured him there were other children in the area similarly afflicted Rothmund visited the towns of Ritzelndorf, Hircheck, and Mittelberg in Kleine Walsertal, a dead-end valley in the mountains where these people lived. Most of the families in this valley were
5
AN HITHERTO UNDESCRIBED FAMILIAL DISEASE
Michael Thomson · British Journal of Dermatology · 1923 · 102 citations
CONGENITAL CUTANEOUS DYSTROPHY (THOMSON'S TYPE)
Arthur Rook, I. W. WHIMSTER · British Journal of Dermatology · 1949 · 44 citations
Medicine, Dermatology, Pathology +6
ECTODERMAL AND MESODERMAL DYSPLASIA WITH OSSEOUS INVOLVEMENT
H. N. COLE · Archives of Dermatology · 1941 · 44 citations
Medicine, Dermatology, Pathology +10
Howard Hailey · Archives of Dermatology and Syphilology · 1941 · 22 citations
Life Sciences, Genetics, Pediatrics +11