Results 21 to 30 of about 17,615 (249)

Light-induced depigmentation in planarians models the pathophysiology of acute porphyrias

eLife, 2016
Porphyrias are disorders of heme metabolism frequently characterized by extreme photosensitivity. This symptom results from accumulation of porphyrins, tetrapyrrole intermediates in heme biosynthesis that generate reactive oxygen species when exposed to ...
Bradford M Stubenhaus, John P Dustin, Emily R Neverett, Megan S Beaudry, Leanna E Nadeau, Ethan Burk-McCoy, Xinwen He, Bret J Pearson, Jason Pellettieri   +8 more
doaj   +1 more source

Clinical Manifestation and Hematologic Interpretation of Pediatric Systematic Lupus Erythematosus at Initial Presentation: 2-Years Observation

Althea Medical Journal, 2021
Background: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by a spectrum of clinical manifestations, immunological abnormalities, and varied laboratories results.
Hasti Savira Yudiana, Reni Ghrahani, Adhi Kristianto Sugianli   +2 more
doaj   +1 more source

A boy with bird-like facies and ataxia: Cockayne syndrome

Indian Journal of Paediatric Dermatology, 2018
Introduction: Congenital photosensitive disorders are a group disorders presenting with photosensitivity, short stature (SS), systemic manifestations and susceptibility to malignancy.
Vishalakshi S Pandit
doaj   +1 more source

Smoking associates with distinct clinical phenotypes in patients with systemic lupus erythematosus: a nationwide Danish cross-sectional study

Lupus Science and Medicine, 2021
Objectives SLE displays large clinical heterogeneity that beyond genetic factors may be determined by environmental exposures. In this Danish nationwide study, we aimed to determine if clinical subsets of SLE were associated with smoking history.Methods ...
Søren Jacobsen, Asta Linauskas, Salome Kristensen, Niels Steen Krogh, Lene Dreyer, Anne Troldborg, Anne Voss, Henrik Christian Bidstrup Leffers, Jesper Lindhardsen, Prabhat Kumar, Lars Juul, Bent Deleuran   +11 more
doaj   +1 more source

Kindler′s syndrome: A tale of two siblings

Indian Journal of Dermatology, 2016
Kindler′s syndrome (KS) is a rare inherited skin disease characterized by acral blistering, photosensitivity, progressive poikiloderma, and cutaneous atrophy along with different types of mucosal involvement. We hereby report KS in two siblings. The case
Navya Handa, Dilip Kachhawa, Vinod Kumar Jain, Pankaj Rao, Anupam Das   +4 more
doaj   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

Congenital erythropoietic porphyria: Two case reports

Indian Journal of Dermatology, 2011
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
doaj   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female

Allergy, Asthma & Clinical Immunology, 2006
Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimicking angioedema with hepatomegaly in a 4-year-old ...
Wang Helen C, Yousef Ejaz
doaj   +1 more source

Aplastic Anemia Complicating Systemic Lupus Erythematosus

Indian Pediatrics Case Reports, 2021
Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disorder with a myriad of hematological manifestations. Pancytopenia occurs in 10%–50% of cases in these patients.
Anu Maheshwari, Gulnaz Nadri, Rajesh Meena, Deonath Mahto   +3 more
doaj   +1 more source