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. 2019 Feb 4;2(1):e201800284. doi: 10.26508/lsa.201800284

Figure 3. Clinical, histological, and genetic features of the proband in LK family 2.

Figure 3.

(A) Pedigree. The arrow indicates the proband. (B, C) The proband showed PPK with a honeycomb pattern and constricted digits. These clinical images were taken when she was 39. (D, E) Generalized ichthyosis and well-demarcated erythematous plaques. She also presented with dozens of non-scaly whitish skin spots on her left thigh. Higher magnification of the square in (D) is shown in (E). Note that skin biopsies were taken from the affected lesion (asterisk) and two normal-appearing patches (arrow and arrowhead). (F, G) Histology of the lesional skin (G) showed marked hyperkeratosis with parakeratosis and hypergranulosis (F). (H) A heterozygous 1-bp insertion mutation, c.664_665insC (p.Gln222ProfsTer116), was detected in the affected epidermis and dermis. (I–N) The two normal-appearing patches (I, J) displayed normal epidermal architecture (K, L). The frameshift mutation was detected at lower levels in the revertant epidermis than in the revertant dermis, suggesting admixture between revertant and affected cells in the revertant epidermis (M, N). Scale bars, 100 μm.