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. 2017 Jul;177(1):319-322.
doi: 10.1111/bjd.15570. Epub 2017 Jun 7.

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

L M Boyden  1 , B G Craiglow  2   3 , R H Hu  2 , J Zhou  2 , J Browning  4 , L Eichenfield  5 , Y L Lim  6 , M Luu  7 , L M Randolph  8 , M Ginarte  9 , L Fachal  10 , L Rodriguez-Pazos  11 , A Vega  10 , D Kramer  12 , G Yosipovitch  13 , H Vahidnezhad  14 , L Youssefian  14 , J Uitto  14 , R P Lifton  1 , A S Paller  15 , L M Milstone  2 , K A Choate  1   2   16
Affiliations

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

L M Boyden et al. Br J Dermatol. 2017 Jul.
No abstract available

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Conflict of interest statement

Conflict of interest: The authors declare no conflict of interest relevant to this work.

Figures

Figure 1
Figure 1. Spectrum of cutaneous phenotypes and PNPLA1 mutation sites in subjects with ichthyosis
Extent and severity of erythema and scale vary significantly and include: (a) ICH136-1 and (b) ICH431-1, mild erythema and fine white scale; (c) ICH201-4, moderate-severe erythema and fine white scale; (d) ICH162-2 and (e) ICH561-1, minimal erythema and plate-like scale; and (f) ICH201-1, moderate-to-severe erythema with plate-like scale. (g) PNPLA1 protein domains: patatin domain (green), lipid hydrolase catalytic dyad (orange), and proline-rich domain (blue) are indicated; numbers specify amino acid position. Locations of mutations reported herein are shown with black bars and the amino acid change (missense mutations) or red bars (splice site and frameshift mutations).
See this image and copyright information in PMC

References

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