Literature DB >> 2521286

Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma.

R M Pujol1, A Moreno, A Alomar, J M de Moragas.   

Abstract

Four members of a consanguineous family showed a congenital disorder characterized by an ichthyosiform dermatosis, sclerosing palmoplantar keratoderma, and multiple keratotic papules arranged in bands with a linear, cordlike distribution. This association seems to represent a distinct entity. The differential diagnosis is described.

Entities:  

Mesh：

Year:  1989        PMID： 2521286

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN： 0003-987X


  3 in total

1.  A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.

Authors:  Johanna Dahlqvist; Joakim Klar; Neha Tiwari; Jens Schuster; Hans Törmä; Jitendra Badhai; Ramon Pujol; Maurice A M van Steensel; Tjinta Brinkhuizen; Tjinta Brinkhuijzen; Lieke Gijezen; Antonio Chaves; Gianluca Tadini; Anders Vahlquist; Niklas Dahl
Journal:  Am J Hum Genet       Date:  2010-03-11       Impact factor: 11.025

2.  siRNA silencing of proteasome maturation protein (POMP) activates the unfolded protein response and constitutes a model for KLICK genodermatosis.

Authors:  Johanna Dahlqvist; Hans Törmä; Jitendra Badhai; Niklas Dahl
Journal:  PLoS One       Date:  2012-01-03       Impact factor: 3.240

Review 3.  KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.

Authors:  Takuya Takeichi; Masashi Akiyama
Journal:  Front Immunol       Date:  2020-04-30       Impact factor: 7.561
  3 in total

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