| umls-concept:C0265965 | skos:definition | MSH: A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.,JABL: A rare syndrome characterized by reticulate skin pigmentation, mucosal leucoplakia, and nail dystrophy, bone marrow involvement, pancytopenia, and predisposition to malignancy. | lld:umls |
