caa a22 4500 46575385X CHVBK 20180323111841.0 cr unu---uuuuu 170327e19900501xx s 000 0 eng 10.1007/BF01600141 doi (NATIONALLICENCE)springer-10.1007/BF01600141 Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) [Elektronische Daten] An autopsy case presenting with rectal carcinoma, non-cirrhotic portal hypertension, and Pneumocystis carinii pneumonia [Kenji Kawaguchi, Hisashi Sakamaki, Yasusuke Onozawa, Morio Koike] Summary: A 24-year-old Japanese man presented with dyskeratosis congenita (DC, Zinsser-Cole-Engman syndrome) complicated by non-cirrhotic portal hypertension, signet ring carcinoma of the rectum andPneumocystis carinii pneumonia. At the age of 9 years, he was diagnosed as having DC on the basis of typical clinical manifestations including atrophic lingual papillae, hyperpigmentation of the skin, thrombocytopenia, and ophthalmological abnormalities. A few years later pancytopenia and splenomegaly developed. At 24 years, signet ring carcinoma of the rectum was detected but could not be resected because of the severity of the pancytopenia. Death was due to respiratory failure fromP. carinii pneumonia. At autopsy the case illustrated several unique findings for DC, including non-cirrhotic portal hypertension, atrophy of frontal lobe and markedly slender folia of the cerebellum and superimposed infections with herpes zoster virus andP. carinii. Striking lymphocyte depletion and atrophy of lymphoid parenchyma in lymph nodes, tonsils, spleen, gastrointestinal tract, or thymus were seen histologically. The morphological picture supports the suggestion that there is a defect in the cell-mediated immune system in patients with DC, although immunoglobulin levels in the blood are normal. The cell-immune deficiency is a major factor in the poor prognosis. Springer-Verlag, 1990 Dyskeratosis congenita nationallicence Signet ring carcinoma of the rectum nationallicence Non-cirrhotic (idiopathic) portal hypertension nationallicence Pneumocystis carinii pneumonia nationallicence Immunodeficiency nationallicence Kawaguchi Kenji Department of Pathology, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut Sakamaki Hisashi Department of Internal Medicine, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut Onozawa Yasusuke Department of Internal Medicine, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut Koike Morio Department of Pathology, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut Virchows Archiv A Springer-Verlag 417/3(1990-05-01), 247-253 0174-7398 417:3<247 1990 417 428 https://doi.org/10.1007/BF01600141 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01600141 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kawaguchi Kenji Department of Pathology, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Sakamaki Hisashi Department of Internal Medicine, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Onozawa Yasusuke Department of Internal Medicine, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 700 1- Koike Morio Department of Pathology, Tokyo Metropolitan Komagome Hospital, Bunkyo-ku, 113, Tokyo, Japan aut NATIONALLICENCE 773 0- Virchows Archiv A Springer-Verlag 417/3(1990-05-01), 247-253 0174-7398 417:3<247 1990 417 428 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer