DYSKERATOSIS CONGENITA, X LINKED
\dˌɪskəɹɐtˈə͡ʊsɪs kɒnd͡ʒɪnˈiːtə], \dˌɪskəɹɐtˈəʊsɪs kɒndʒɪnˈiːtə], \d_ˌɪ_s_k_ə_ɹ_ɐ_t_ˈəʊ_s_ɪ_s k_ɒ_n_dʒ_ɪ_n_ˈiː_t_ə]\
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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.
By DataStellar Co., Ltd
Nearby Words
- dysiatos
- dysidria
- dysidrosis
- dyskeratosis
- dyskeratosis congenita
- Dyskeratosis Congenita, X Linked
- dyskinesia
- dyskinesia algera
- dyskinesia intermittens
- dyskinesia syndrome
- dyskinesia syndromes