Hermansky-Pudlak Syndrome with Granulomatous Colitis

Abstract

The Hermansky-Pudlak syndrome consists of tyrosine-positive albinism, a defect in the second phase of platelet aggregation, and widespread accumulation of a ceroidlike pigment in tissue. Pulmonary fibrosis has also been reported. In this paper, we describe two families with documented Hermansky-Pudlak syndrome in which four members, two from each family, developed granulomatous colitis. This adds another disease entity to those associated with this syndrome. We discuss possible connecting links between these disease expressions.

Chitinase 3–like–1 and its receptors in Hermansky-Pudlak syndrome–associated lung disease

“…The dysfunction of platelet-dense granules accounts for the bleeding disorder that is often the presenting complaint of the disease (4,5). Ceroid deposition also occurs in multiple organs, and inflammatory bowel disease has been reported in various subtypes of HPS (2,(6)(7)(8). More importantly, pulmonary fibrosis has been observed in HPS-1 and HPS-4 patients, whose genetic defects are in biogenesis of lysosome-related organelle complex 3 (BLOC-3), which includes HPS1 and HPS4 proteins; and, less commonly, in HPS-2 patients (3,(9)(10)(11)(12).…”

“…HPS-1 is particularly common in northwest Puerto Rico, where 1:1,800 people are affected, and the carrier frequency is 1 in 21 persons (1). The signs and symptoms of HPS are related to the dysfunction of a variety of LROs (2,3). The dysfunction of melanosomes accounts for the oculocutaneous albinism and visual impairment found in all HPS patients (4).…”

Hermansky–Pudlak Syndrome and Pale Ear: Melanosome‐Making for the Millennium

“…Most Puerto Rican HPS patients are homozygous for the codon 491-496 duplication (32,35,39), although HPS has not been reported elsewhere in the Caribbean, suggesting that this HPS gene mutant allele probably arose on or was introduced to the island of Puerto Rico early during its history and became frequent by chance and occult inbreeding; there is no evidence for any selective Pigment Cell Res. 13,2000 As shown in Table 1, mutations in a number of the other mouse HPS-like loci have also been found. Several of these genes encode proteins that have been directly implicated in trafficking newly-synthesized proteins to organelles.…”

“…These phenotypic features are associated with abnormalities of at Pigment Cell Res. 13,2000 Major Features Of Hermansky-Pudlak Syndrome HPS (MIM203300) is an autosomal recessive disorder characterized principally by oculocutaneous albinism, a bleeding diathesis, and a ceroid-lipofuscin-like lysosomal storage disease ((1), reviewed in (2)). The albinism is of a tyrosinase-positive type (Fig.…”

Application of liposomes in drug development – focus on gastroenterological targets

“…5 Both types of immunity contribute to the pathogenesis of IBD. Defects in innate immunity increase the incidence of IBD 6,7 and different T cell subpopulations are aberrantly activated in CD and UC. 8 Chronic inflammation may trigger dysplasia by inducing genetic and epigenetic changes in intestinal epithelial cells.…”