Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype | Zendy

M. Anthony Sofia | Zendy; Atsushi Sakuraba | Zendy; David T. Rubin | Zendy

Open Access

Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype

Author(s) -

M. Anthony Sofia,

Atsushi Sakuraba,

David T. Rubin

Publication year - 2017

Publication title -

acg case reports journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.112

H-Index - 4

ISSN - 2326-3253

DOI - 10.14309/crj.2017.14

Subject(s) - hermansky–pudlak syndrome , phenotype , oculocutaneous albinism , medicine , disease , crohn's disease , pathophysiology , clinical phenotype , albinism , immunology , pathology , platelet , gene , genetics , biology , pulmonary fibrosis , fibrosis

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype.

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