Immunohistochemical staining using monoclonal antibody against the repeat region of filaggrin.
(A) In the normal control, keratohyalin granules are strongly stained (arrows).
(B) The proband in family 4 shows complete absence of staining in the upper suprabasal layers (dashed arrows). This demonstrates that no filaggrin peptides are produced in patients homozygous for R501X.
Reprinted by permission from Macmillan Publishers Ltd: Nature Genetics. Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38:337. Copyright © 2006.
https://www.nature.com/ng/.
