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Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis [PDF]

Respiratory Medicine Case Reports
Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia
Matthew Donnan, Samantha Ellis, Ian Glaspole   +2 more
doaj   +3 more sources

Hermansky-Pudlak Syndrome: A Case Report [PDF]

Case Reports in Hematology, 2014
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention.
Ilhami Berber, Mehmet Ali Erkurt, Irfan Kuku, Emin Kaya, Mustafa Koroglu, Ilknur Nizam, Mehmet Gul, Recep Bentli   +7 more
doaj   +4 more sources

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

BMC Gastroenterology, 2019
Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency.
Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita   +10 more
doaj   +2 more sources

Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1 [PDF]

Orphanet Journal of Rare Diseases
Hermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality in these patients.
Lourdes Marinna Caro-Rivera, Sonya Malavez-Cajigas, Mercedes Lacourt-Ventura, Andrea P. Rivera-Torres, Dorca E. Marcano-Jiménez, Pablo López-Colon, José Muñiz-Hernández, Enid Rivera-Jiménez, Mónica Egozcue-Dionisi, Rosa Román-Carlo, Wilfredo De Jesús-Rojas, Marcos J. Ramos-Benítez   +11 more
doaj   +2 more sources

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 [PDF]

Orphanet Journal of Rare Diseases, 2022
Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico.
Gabriel Santos Malave, Natalio J. Izquierdo, Nestor P. Sanchez   +2 more
doaj   +2 more sources

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) [PDF]

BMC Genomics
Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease.
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi   +5 more
doaj   +2 more sources

After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report [PDF]

Molecular Genetics & Genomic Medicine
Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects.
Joseline Serrano‐González, Ingrid Montes‐Rodríguez, Jessicca Y. Renta, Ricardo Rojas, Carmen L. Cadilla   +4 more
doaj   +2 more sources

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome [PDF]

JAAD Case Reports, 2022
Ryan Fan, BA, Margaret S. Johnston, MD, Michael F. Gowen, MD, William Damsky, MD, PhD, Ian Odell, MD, PhD, James Clune, MD, Matthew D. Vesely, MD, PhD   +6 more
doaj   +2 more sources

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Acta Chimica Slovenica, 2021
Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced
Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Katarina Trebušak Podkrajšek   +6 more
doaj   +1 more source