Results 51 to 60 of about 1,137,601 (187)

Hermansky-Pudlak Syndrome [PDF]

, 2013
Oculocutaneous albinism is classified into non-syndromic oculocutaneous albinism (OCA) and syndromic OCA including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome (CHS) and Griscelli syndrome (GS). Both non-syndromic and syndromic OCAs are autosomal recessive disorders.
Naoki Oiso, Akira Kaw
openaire   +2 more sources

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +2 more sources

Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

Stem Cell Research, 2016
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9) based
Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Alyssa Gagne, Paul Gadue, Deborah L. French   +6 more
doaj   +1 more source

Severe Postoperative Hemorrhage Following Dental Debridement in a Patient With PSPD

Special Care in Dentistry, Volume 46, Issue 4, July/August 2026.
Abstract Background Platelet Storage Pool Deficiency (PSPD) is a rare qualitative defect involving impaired granule secretion, often presenting with normal routine coagulation profiles. This case highlights the challenges of dental debridement in a young adult with special health care needs where functional platelet failure outweighs numerical counts ...
Dan Burch, Richard Clark, Michael Bianchi   +2 more
wiley   +1 more source

Chest computed tomography scans in Hermansky-Pudlak syndrome pulmonary fibrosis patients before and after lung transplantation.

, 2018
Representative computed tomography scan images of the chest from one patient with Hermansky-Pudlak syndrome pulmonary fibrosis showing diffuse bilateral interstitial infiltrates at the time of referral for lung transplantation (A) and 6 years after ...
Ye Cui (2273386), Kevin J. O’Brien (3147789), Steven D. Nathan (355595), Ivan O. Rosas (315478), Jean M. Connors (4971772), Philip C. Camp Jr. (4971781), Melissa A. Merideth (4971778), Bernadette R. Gochuico (355593), Vladislav Speransky (4971766), William A. Gahl (169534), Todd L. Astor (4971769), Souheil El-Chemaly (705219), Merte Lemma (4971775), Gerald L. Weinhouse (4971784), Hilary J. Goldberg (3097875)   +14 more
core   +1 more source

Innate Lymphoid Cells in Tissue Homeostasis and Diseases

MedComm, Volume 7, Issue 5, May 2026.
Innate lymphoid cells (ILCs) are a heterogeneous group of immune cells with phenotypic and functional plasticity. ILCs dynamically regulate various immune cell types and play a crucial role in the pathophysiological processes of specific organs during sepsis. Targeting ILCs is a promising strategy for treating sepsis.
Zhenzhen Zhan, Heyang Sun, Chenning Li, Qianya Hong, Shuainan Zhu, Ying Yu, Hao Zhang, Kefang Guo   +7 more
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

A Case of Hermansky–Pudlak Syndrome

Journal of Association of Pulmonologist of Tamil Nadu
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by a triad of oculocutaneous albinism, bleeding diathesis, and lysosomal storage defects. One of the most severe complications of HPS is interstitial lung disease. There
A. Vasudevan, Gayathri Devi Anur Ramakrishnan   +1 more
doaj   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]

, 2019
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Kumar, Vinesh, Shaukat, Nauman, Khan, Aslam, Iqbal, Aqsa, Shaikh, Safia, Awan, Bilal, Nawaz, Abid   +6 more
core   +1 more source