Dyskeratosis congenita.
Dyskeratosis congenita (DC) is an inheritable bone marrow failure syndrome characterized by reticulated hyperpigmentation, dystrophic nails and oral leukoplakia. Another name for the condition is Zinsser-Cole-Engman syndrome. Hematologic manifestations usually do not appear in childhood but later in early adulthood. Patients are also prone to carcinomas, particularly of the head and neck. The disease has X-linked or autosomal dominant/recessive inheritance. Early childhood variants (Hoyeraal-Hreidarsson syndrome) are associated with immunological abnormalities in the form of low T- and B-cell numbers. Four genes, namely DKC1 (codes for dyskerin), TERC and TERT (code for telomerase) and NOP10, have been implicated in the pathogenesis; the short telomeres provide a marker for genetic linkage studies. Androgens, with or without granulocyte colony stimulating factor, have been tried in the treatment of the conditions with variable results. Stem cell transplantation from matched sibling donor is currently the treatment of choice. It requires modified nonmyeloablative conditioning protocols, since the patients with DC are prone to pulmonary and hepatic complications.
Gupta
Vineeta
V
Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221005, India. vineetaguptabhu@gmail.com
Kumar
Akash
A
D000328:Adult; D000728:Androgens / Q000627:therapeutic use; D001402:B-Lymphocytes / Q000276:immunology / Q000378:metabolism; D001855:Bone Marrow Diseases / Q000097:blood / Q000235:genetics / Q000276:immunology / Q000628:therapy; D018797:Cell Cycle Proteins / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000097:blood / Q000235:genetics / Q000276:immunology / Q000628:therapy; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006801:Humans; D018655:Lymphocyte Count; D009687:Nuclear Proteins / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D012313:RNA / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D020718:Ribonucleoproteins, Small Nucleolar / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism; D019098:Telomerase / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D016615:Telomere / Q000235:genetics / Q000276:immunology / Q000378:metabolism
D000728:Androgens; D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; C416930:NOP10 protein, human; D009687:Nuclear Proteins; D020718:Ribonucleoproteins, Small Nucleolar; C422952:telomerase RNA; D016179:Granulocyte Colony-Stimulating Factor; D012313:RNA; C509186:TERT protein, human; D019098:Telomerase