Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. [cyberleninka.org]

Previous presentation: This case was presented at the 2015 ACG Annual Meeting; October 19–21, 2015; Honolulu, Hawaii. Correspondence: M. Anthony Sofia, 5841 S. Maryland Ave, MC 4076, Chicago, IL 60637 ( [email protected] ). [acgcasereports.gi.org]

Two siblings presented in infancy with nystagmus and reduced vision. They were initially diagnosed with isolated foveal hypoplasia with no aberrant chiasmal misrouting on VEPs. [ncbi.nlm.nih.gov]

• Inflammation

  CONCLUSIONS: Inflammation is initiated from the abnormal alveolar epithelial cells in HPS, and S-nitrosylated SP-D plays a significant role in amplifying pulmonary inflammation. [ncbi.nlm.nih.gov]

  Sigmoidoscopy showed severe, continuous inflammation of the rectosigmoid (Figure 3). Pathology demonstrated cryptitis with crypt abscesses, dense inflammation with loss of normal architecture, ulcerations, and melanosis coli (Figure 4). Figure 3. [acgcasereports.gi.org]

  Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): Severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. [mjmsr.net]

• Recurrent Infection

  We describe a consanguineous female infant with reduced pigmentation, neutropenia and recurrent infections. Platelets displayed reduced aggregation and absent ATP secretion in response to collagen and ADP, indicating a platelet dense granule defect. [ncbi.nlm.nih.gov]

  He had no history of recurrent infections. His parents were unrelated, and he had one unaffected brother and sister. The physical examination was remarkable for albinism (definite skin and hair colour) (Figure 1) and suborbital ecchymosis. [cyberleninka.org]

  He denied recurrent infections or neurological symptoms. Family history of the patient was significant. His sister had been diagnosed of albinism and lymphangioleiomyomatosis. His brother had normal skin and was healthy. [ijcasereportsandimages.com]

• Pediatric Disease

  Cutaneous Protothecosis Dermatologic Manifestations of Filariasis Dermatologic Manifestations of Onchocerciasis (River Blindness) Lice Organism-Specific Therapy Pediculosis and Pthiriasis (Lice Infestation) Scabies Scabies Organism-Specific Therapy Pediatric [dokterairlangga.com]

• Prolonged Bleeding

  Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. [ncbi.nlm.nih.gov]

  The bleeding disorder is not severe but is manifested by prolonged bleeding from minor cuts, excessive menstrual bleeding, bleeding from the gums, or nose bleeds. [dermatologyadvisor.com]

• Easy Bruising

  RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising. [ncbi.nlm.nih.gov]

  The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. [flybase.org]

  He had history of easy bruising. He had no gastrointestinal symptoms. He was born of consanguineous marriage and there is history of albinism in one of his forefathers. [jacpjournal.org]

• Dyspnea

  A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. [ncbi.nlm.nih.gov]

  The PS-PF progressed to dyspnea and worsening hypoxia. [ijcasereportsandimages.com]

• Pneumonia

  […] here to view This course of disease was complicated by hospital acquired pneumonia due to pseudomonas infection which was treated by piperacillin-tazobactam with amikacin. [mjmsr.net]

  The interstitial pneumonia progressed despite treatment with prednisolone, cyclosporine A and pirfenidone. In this report, we discuss the pathological lung features and treatment of HPS associated with interstitial pneumonia. [ncbi.nlm.nih.gov]

  The active fibroblastic foci seen in usual interstitial pneumonia are generally not present in HPS [ 4 ]. [erj.ersjournals.com]

• Clubbed Finger

  Fig. 1 Albinism in the Hermansky-Pudlak syndrome patient Full size image Physical examination revealed clubbing fingers and bilateral end-inspiratory fine crackles in the lower and middle lung areas. [bmcpulmmed.biomedcentral.com]

• Tachycardia

  He also had tachycardia and tachypnea with grade 3 digital clubbing. On auscultation of chest there was presence of bilateral basal fine end inspiratory velcro-like crackles. Other systemic examinations were normal. [mjmsr.net]

• Visual Impairment

  impairment 32 HP:0000505 3 nystagmus 32 HP:0000639 4 bruising susceptibility 32 HP:0000978 5 albinism 32 HP:0001022 6 ocular albinism 32 HP:0001107 7 impaired platelet aggregation 32 HP:0003540 8 reduced visual acuity 32 HP:0007663 UMLS symptoms related [malacards.org]

  Visual impairment Visual disorders in Hermanksy-Pudlak syndrome include: Photophobia (light sensitivity) Reduced visual acuity/ refractive errors Colour vision deficiency Nystagmus (involuntary eye movements) Strabismus (horizontal and vertical eye deviations [dermnetnz.org]

  Hermansky-Pudlak syndrome is a multisystem disorder with albinism, bleeding diathesis and visual impairment as the main features. We report a case of epidural analgesia in a pregnant patient, who was subsequently discovered to have this syndrome. [ncbi.nlm.nih.gov]

• Visual Acuity Decreased

  Clinical description HPS-2 presents with features of HPS including oculocutaneous albinisim, reduced visual acuity, horizontal nystagmus, easy bruising of soft tissues, epistaxis, and prolonged bleeding after dental extraction, surgery or childbirth. [rarediseases.info.nih.gov]

• Petechiae

  No additional petechiae, purpura, or ecchymosis was present on any part of his body. Upon ophthalmic examination he displayed nystagmus, exotropia, and foveal hypoplasia. [cyberleninka.org]

  Bleeding symptoms range from epistaxis, petechiae to easy bruising and may cause serious problems in the case of trauma or surgery. [fortunejournals.com]

  Pseudo-Kaposi Sarcoma (Acroangiodermatitis) Stasis Dermatitis Thrombophlebitis Tufted Angioma Unilateral Nevoid Telangiectasia Varicose Veins and Spider Veins Venous Insufficiency Venous Lakes Environmental Acrodynia Bedbug Bites Black Heel (Calcaneal Petechiae [dokterairlangga.com]

• Hypopigmented Skin

  Figure 1: (a and b) Face of our patient showing divergent strabismus and hypopigmented skin suggestive of oculocutaneous albinism Click here to view Complete blood count was normal. [mjmsr.net]

  She was noted to have albinoid fundi, hypopigmented skin and neutropenia. P2 had a stable neutrophil count of 0.2–0.7×10 9 /L and has been managed with long-term oral antibiotic prophylaxis. [haematologica.org]

• Kidney Failure

  Others experience inflammatory bowel disease such as colitis, or may develop kidney failure and heart disease. Genetics: This is a group of disorders rather than one disease since multiple gene mutations are causative. [disorders.eyes.arizona.edu]

  Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure. [medlineplus.gov]

• Nystagmus

  Description from OMIM: 614076 Related Diseases for Hermansky-Pudlak Syndrome 7 Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 7 Symptoms via clinical synopsis from OMIM: 57 Head And Neck Eyes: nystagmus ocular albinism decreased visual acuity Skin [malacards.org]

  Nystagmus was clinically evident in all but three patients. Eye movement recordings revealed abnormalities in all patients. The most common nystagmus type was periodic alternating nystagmus documented in 11 patients. [iovs.arvojournals.org]

  A 30-year-old Hindu male patient with oculocutaneous albinism, strabismus, nystagmus and severe dimness of vision presented to us for severe shortness of breath. [mjmsr.net]

  He was dyspnoeic at rest and had nystagmus and clubbing [Figure 3]. His vitals were stable and pulse oximetry showed a saturation of 92% in room air. [jacpjournal.org]

  Periodic alternating Nystagmus is always present in these patients. Strabismus is a common finding in all forms of albinism— esotropia or exotropia [15]. Our patient has periodic alternating nystagmus and exotropia. [ijcasereportsandimages.com]

• Involuntary Movements

  This causes decreased visual acuity which is frequently severe enough to be legal blindness, photophobia (light sensitivity), strabismus (crossed eyes), and nystagmus (involuntary movement of the eyes). [hpsnetwork.org]

Hence, the knowledge regarding HPS and its workup is essential. Early screening of HPS patients for PF and intervention with long-term oxygen therapy (LTOT) and antifibrotics will reduce the morbidity. [jacpjournal.org]

• Colitis

  The major complications of this disorder are pulmonary fibrosis (PF) and colitis. This is a case report of an HPS patient with PF. [jacpjournal.org]

  Colitis: A granulomatous colitis associated with HPS was first described in 1980 [25]. Twenty percent patients of HPS associated with granulomatous colitis. [ijcasereportsandimages.com]

  colitis but no case of isolated ileitis has been described so far. [em-consulte.com]

  Typically there is a family history of albino-like conditions associated with bleeding diathesis and pulmonary dysfunction and/or colitis. [dermatologyadvisor.com]

  […] in CD suggests that this type of colitis may result from HPS patients' genetic susceptibility to CD. [ncbi.nlm.nih.gov]

The definitive treatment for PF of HPS is lung transplantation. [jacpjournal.org]

Diagnosis of individuals with other types of HPS is available on a research basis only. [8] Treatment [ edit ] While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic [en.wikipedia.org]

[…] in CD treatment. [ncbi.nlm.nih.gov]

There is no known treatment for HPS. The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. [clinicaltrials.gov]

Obtaining an early diagnosis and taking into consideration the need for lung transplantation is necessary in order to improve the prognosis of HPS. [ncbi.nlm.nih.gov]

Prolonged bleeding has been reported following strabismus surgery in patients with the syndrome. [10] Prognosis [ edit ] The course of HPS has been mild in rare instances of the disorder, [11] however, the general prognosis is still considered to be poor [en.wikipedia.org]

Prognosis The course of HPS-3, HPS-5 and HPS-6 (or HPS without PF as a complication; see this term) is mild with no pulmonary involvement. Prognosis of HPS-1 and HPS-4 is poor as PF is fatal. [orpha.net]

[…] article/view/2858 Most read articles by the same author(s) Ezgi Ozyilmaz, Ozlem Goruroglu Ozturk, Ali Durmaz, Orhan Othman Hasan, Bugra Guzelbaba, Gulsah Seydaoglu, Sedat Kuleci, Ismail Hanta, Eren Erken, Ali Kocabas, Early prediction of sarcoidosis prognosis [mattioli1885journals.com]

Abstract The etiology of Hermansky-Pudlak syndrome (HPS) pulmonary fibrosis (HPSPF), a progressive interstitial lung disease with high mortality, is unknown. Galectin-3 is a β-galactoside-binding lectin with profibrotic effects. [ncbi.nlm.nih.gov]

Etiology HPS is characterized by a storage pool deficiency of platelets and can be caused by mutations in one of several genes: HPS1 (10q23.1), AP3B1 (5q14.1; causing HPS-2), HPS3 (3q24), HPS4 (22q11.2-q12.2), HPS5 (11p15-p13), HPS6 (10q24.32), DTNBP1 [orpha.net]

(Etiology) Hermansky-Pudlak Syndrome is the result of defective metabolic reactions with complex genetic mutations. [dovemed.com]

Relevant External Links for HPS1 Genetic Association Database (GAD) HPS1 Human Genome Epidemiology (HuGE) Navigator HPS1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HPS1 No data available for Genatlas for HPS1 Gene A comprehensive [genecards.org]

[…] consists of: oculocutaneous hypopigmentation (albinism) platelet dysfunction abnormal storage of autofluorescent pigment (ceroid or lipofuscin) typically occurs within lysosomal organelles of the cells of multiple organs and the reticuloendothelial system Epidemiology [pacs.de]

Young Medicine Seminars in Respiratory and Critical Care Medicine 2020 The epidemiology, genetics, clinical manifestations, and management of Hermansky–Pudlak syndrome are described, and treatment options for individuals with HPS-PF include pirfenidone [semanticscholar.org]

Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models [books.google.com]

Summary Epidemiology Prevalence is estimated at 1/500,000 - 1/1,000,000 in non-Puerto Rican populations. In northwestern Puerto Rico the prevalence of HPS-1 is 1/1,800. [orpha.net]

Pathophysiology Melanosomes and dense granules in platelets are lysosome related organelles. [dermatologyadvisor.com]

Retrieved 24 November 2008. ^ "Hermansky-Pudlak Syndrome: Background, Pathophysiology, Epidemiology". 13 June 2017. ^ "Hermansky-Pudlak Syndrome". Hermansky–Pudlak Syndrome. University of Washington, Seattle. 1993. [en.wikipedia.org]

It is not clear from the known pathophysiology of HPS whether conventional therapy for CD is as effective in HPS-associated enterocolitis as in CD. [acgcasereports.gi.org]

In this report, we discuss the pathophysiologic features of HPS and the prophylactic administration of 1-deamino-8-arginine-vasopression during labor to minimize blood loss. [ncbi.nlm.nih.gov]

The DDAVP prophylaxis at the first delivery of our patient did not prevent the severe haemorrhagic sequeal requiring transfusion of packed red cells and platelets, but the same preventive measure was successful at her second childbirth. [ncbi.nlm.nih.gov]

Phacoemulsification may help prevent intraoperative and postoperative bleeding in patients with the syndrome. [en.wikipedia.org]