digenic dyskeratosis congenita

A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific hap

A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11.

Signs and symptoms

• Alopecia
• Sparse eyelashes
• Abnormal skin pigmentation
• Nail dystrophy
• Short telomere length
• Decreased circulating IgA concentration
• Oral leukoplakia
• Recurrent infections
• Decreased circulating IgM concentration
• Short stature