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Jason Douangpanya - One of the best experts on this subject based on the ideXlab platform.

  • interleukin 36 receptor antagonist deficiency and Generalized Pustular Psoriasis
    The New England Journal of Medicine, 2011
    Co-Authors: S Marrakchi, Philippe Guigue, Blair R Renshaw, Anne Puel, S Fraitag, Jihen Zribi, Celine Cluzeau, Maya Chrabieh, Jennifer E Towne, Jason Douangpanya
    Abstract:

    Background Generalized Pustular Psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, Generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type Psoriasis. Methods We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive Generalized Pustular Psoriasis. We assessed the effect of mutations on protein expression and conformation, stability, and function. Results We identified significant linkage to an interval of 1.2 megabases on chromosome 2q13-q14.1 and a homozygous missense mutation in IL36RN, encoding an interleukin-36–receptor antagonist (interleukin-36Ra), an antiinflammatory cytokine. This mutation predicts the substitution of a proline residue for leucine at amino acid position 27 (L27P). Homology-based structural modeling of human interleukin-36Ra suggests that the proli...

Masato Kakeda - One of the best experts on this subject based on the ideXlab platform.

Sigfrid A Muller - One of the best experts on this subject based on the ideXlab platform.

  • Generalized Pustular Psoriasis a review of 63 cases
    Archives of Dermatology, 1991
    Co-Authors: Brian D Zelickson, Sigfrid A Muller
    Abstract:

    • Background.— Sixty-three patients with Generalized Pustular Psoriasis were hospitalized during a 29-year period. They were classified into four subgroups on the basis of onset and morphologic pattern of disease: acute (von Zumbusch), subacute annular, chronic (acral), and mixed. This division provides a better understanding of the variability of the disease and helps in choosing treatment. Observations.— The average age at onset was 50 years; male and female patients were affected about equally. In 11 patients, flares were precipitated by localized infections. Approximately one fourth of the patients had complications; most were superinfections. The average stay in the hospital was 30 days; factors correlating with a long hospitalization were hypocalcemia, female sex, and a previous history of Psoriasis vulgaris or Pustular Psoriasis. Conclusions.— Whereas topical therapy was helpful, systemic medications were often needed. Coal tar, ultraviolet light, and psoralen—ultraviolet A may be effective; however, they must be used with caution, because they may exacerbate the disease. (Arch Dermatol.1991;127:1339-1345)

  • Generalized Pustular Psoriasis in childhood report of thirteen cases
    Journal of The American Academy of Dermatology, 1991
    Co-Authors: Brian D Zelickson, Sigfrid A Muller
    Abstract:

    Generalized Pustular Psoriasis is rare in children. Less than 100 cases have been reported. We describe 13 children with this type of Psoriasis. Seven had acute onset of widespread sterile pustules coalescing into lakes of pus with subsequent exfoliation (the Zumbusch pattern). This usually occurred in infancy and was difficult to control; recurrences developed several times per year. Three had the subacute benign annular pattern. They tended to be older and often had resolution within several years. Three had a mixed pattern with Zumbusch flares preceded by an annular or acral pattern. Most patients had an eruption preceding the Generalized Pustular Psoriasis and often had precipitating factors. Generally, Generalized Pustular Psoriasis has little serious chronic morbidity. The condition in most patients was well controlled with topical therapy. Systemic steroids were not helpful.

Mariagrazia Uguccioni - One of the best experts on this subject based on the ideXlab platform.

S Marrakchi - One of the best experts on this subject based on the ideXlab platform.

  • interleukin 36 receptor antagonist deficiency and Generalized Pustular Psoriasis
    The New England Journal of Medicine, 2011
    Co-Authors: S Marrakchi, Philippe Guigue, Blair R Renshaw, Anne Puel, S Fraitag, Jihen Zribi, Celine Cluzeau, Maya Chrabieh, Jennifer E Towne, Jason Douangpanya
    Abstract:

    Background Generalized Pustular Psoriasis is a life-threatening disease of unknown cause. It is characterized by sudden, repeated episodes of high-grade fever, Generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein, which may be associated with plaque-type Psoriasis. Methods We performed homozygosity mapping and direct sequencing in nine Tunisian multiplex families with autosomal recessive Generalized Pustular Psoriasis. We assessed the effect of mutations on protein expression and conformation, stability, and function. Results We identified significant linkage to an interval of 1.2 megabases on chromosome 2q13-q14.1 and a homozygous missense mutation in IL36RN, encoding an interleukin-36–receptor antagonist (interleukin-36Ra), an antiinflammatory cytokine. This mutation predicts the substitution of a proline residue for leucine at amino acid position 27 (L27P). Homology-based structural modeling of human interleukin-36Ra suggests that the proli...