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Semidominant Inheritance in Epidermolytic Ichthyosis

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Presentation on theme: "Semidominant Inheritance in Epidermolytic Ichthyosis"— Presentation transcript:

1 Semidominant Inheritance in Epidermolytic Ichthyosis
Janna Nousbeck, Gilly Padalon-Brauch, Dana Fuchs-Telem, Shirli Israeli, Ofer Sarig, Ruth Sheffer, Eli Sprecher  Journal of Investigative Dermatology  Volume 133, Issue 11, Pages (November 2013) DOI: /jid Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features and molecular analysis. (a) The proband displays diffuse and yellowish hyperkeratosis on the palmar surface. (b) On histology, examination of a skin biopsy obtained from the proband reveals hyperorthokeratosis, hypergranulosis, and acanthosis along with epidermolytic changes throughout the spinous layers ((hematoxylin & eosin; bar=100μm). (c) Direct sequencing of KRT1 revealed in the proband a homozygous G>A transition (arrow) at position c.544 of the complementary DNA sequence. Her father and mother carried the mutation in a heterozygous state. The wild-type sequence is given for comparison in the upper panel (control). (d) PCR–restriction fragment length polymorphism analysis confirmed the co-segregation of the mutation with the disease phenotype in the family. Mutation c.544G>A creates a recognition site for DNA endonuclease HindIII at position 74 of a 104-bp-long PCR fragment. Homozygous patient displays a fully cleaved product (fragments of 74 and 30bp), whereas the heterozygous carriers show both wild-type fragment (104bp) and cleaved fragments. (e) The mutation is predicted to result in amino-acid substitution p.E182K. Conseq analysis attributes a maximal conservation score to residues E182 ( (arrow). (f) The father of the proband shows minimal callus-like yellowish papules mainly distributed at the base of the fingers (inset). (g) Histopathological examination of a skin biopsy obtained from one of the father’s calluses reveals hyperorthokeratosis, hypergranulosis, acanthosis, and epidermolytic changes in the upper spinous layers (hematoxylin & eosin; bar=100μm). Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2013 The Society for Investigative Dermatology, Inc Terms and Conditions

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