Mucocutaneous Granulomatous Disease in a Patient With Hermansky-Pudlak Syndrome

Abstract

It is unclear whether our patient's cutaneous findings were due to CD or secondary to HPS. This report reviews the features of HPS and CD, 2 entities characterized by a granulomatous inflammatory reaction pattern but with unique genetic and clinical features, and discusses the possible overlap between the 2 diagnoses.

Polyphosphates form antigenic complexes with platelet factor 4 (PF4) and enhance PF4-binding to bacteria

“…In this regard, the well-established observation that patients whose platelets cannot store polyP due to a hereditary defect in platelet dense granule formation, typically suffer from colitis (59,60) raises two potential implications by which polyP may contribute to colitis. The first is disturbance of bacterial defense in the altered tissue of the colon which allows bacteria to invade, the other, however, is accumulation of PF4/polyP complexes in the tissue allowing activation of leukocytes, either directly or as immune-complexes when anti-PF4/heparin antibodies have bound.…”

Metastatic Crohn’s disease: an underestimated entity

“…Non‐genital lesions present as erythematous, violaceous or brownish papules, plaques or nodules as well as fissures and/or ulcers. Genital lesions show swelling and/or even induration of the genitalia (Figure 1a) [2, 13]. Moreover, vegetating papillomatous nodules mimicking condylomata and lesions resembling skin tags have been described [4, 13].…”

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

“…There are several subtypes, but all share oculocutaneous albinism and platelet dysfunction 1. Different subtypes have associated conditions and differ in the affected gene 3. HPS type 1 is the most common subtype and is associated with Puerto Rican heritage due to a founder mutation in this population.…”