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Zinsser-Engman-Cole syndrome
Also known as:
Cole's syndrome
Cole-Rauschkolb-Toomey syndrome
Hoyeraal-Hreidarsson Syndrome
Zinsser's syndrome
Zinsser-Cole-Engman disease
Zinsser-Fanconi-Cole-Rauschkolb-Toomey syndrome
Engman's syndrome
Associated persons:
Harold Newton Cole
Martin Feeney Engman
Guido Fanconi
John E. Rauschkolb
J. Toomey
Ferdinand Zinsser
Description:
A rare, inherited disorder with onset between 5 and 13 years of age, characterized by reticulate skin pigmentation, painful and slow-healing, recurrent ulcers, mucosal leukoplakia, dystrophic nails, bone marrow involvement, pancytopenia, and predisposition to malignancy. Physical and mental development may be retarded. In the majority of cases testicular atrophy. Death from carcinoma between 30 and 50 years of age. It occurs almost exclusively in males. X-linked inheritance is suspected.
When associated with panmyelopathy it is known as Zinsser-Fanconi or Fanconi-Zinsser syndrome.
Bibliography:
- F. Zinsser:
Iconographia dermatologica, syphilidologica et urologica, Kyoto, 1910, 5: 219-223.
- H. N. Cole, J. E. Rauschkolb, J. Toomey:
Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris.
Archives of Dermatology and Syphilology, Chicago, 1930, 21: 71-95.
- M. F. Engman:
A unique case of reticular pigmentation of the skin with atrophy.
Archives of Dermatology and Syphilology, Chicago, 1926, 13: 685-687.
- H. N. Cole, J. E. Rauschkolb, J. Toomey:
Dyskeratosis congenita with pigmentation, dystrophia unguis and leukokeratosis oris.
Archives of Dermatology and Syphilology, Chicago, 1930, 21:71-95.
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