Wingfield Rehmus
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View article: BI21 Intermittent and progressive pustular psoriasis during chemotherapy cycles in a toddler
BI21 Intermittent and progressive pustular psoriasis during chemotherapy cycles in a toddler Open
An 18-month-old with high-risk stage IV neuroblastoma was referred for the difficult evaluation of an intermittent and evolving rash. He presented with erythematous, pruritic papules on his chest, under his portal catheter dressing. After …
View article: A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD
A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD Open
Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human …
View article: Scabies: a historical perspective
Scabies: a historical perspective Open
View article: Expanding global health dermatology leadership: launching the GLODERM international mentorship programme
Expanding global health dermatology leadership: launching the GLODERM international mentorship programme Open
The lack of access to dermatological care is a global health crisis. Providing intentional mentorship to emerging leaders in low- and middle-income countries is foundational to increasing access to care. The GLODERM Mentorship Programme is…
View article: Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders
Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders Open
Importance Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study. Objective To examine…
View article: Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma
Human ASXL1 Deficiency Causes Epigenetic Dysfunction, Combined Immunodeficiency and EBV–Associated Hodgkin Lymphoma Open
Inborn errors of immunity (IEI) are a group of disorders caused by deleterious variants in immune-related genes, including some that function as epigenetic regulators. Additional sex combs-like 1 (ASXL1) is an epigenetic modifier that has …
View article: A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHAD
A germline heterozygous dominant negative<i>IKZF2</i>variant causing syndromic primary immune regulatory disorder and ICHAD Open
Monogenic defects that impair the control of inflammation and tolerance lead to profound immune dysregulation, including autoimmunity and atopy. Studying these disorders reveals important molecular and cellular factors that regulate human …
View article: Health related quality of life of people with oculocutaneous albinism in Jinja, Uganda. A cross sectional study
Health related quality of life of people with oculocutaneous albinism in Jinja, Uganda. A cross sectional study Open
Background The mixed understanding of albinism over the years and across civilizations globally has generated behaviours, attitudes and practices that have influenced the lives of people living with oculocutaneous albinism (PWA). If in som…
View article: Factors associated with the prevalence of depression among people with oculocutaneous albinism in Jinja,Uganda.A cross sectional study
Factors associated with the prevalence of depression among people with oculocutaneous albinism in Jinja,Uganda.A cross sectional study Open
Background Depression is among the common psychiatric disorders with high prevalence in the general population.This prevalence is higher in vulnerable populations including people living with albinism. Despite the fact that several aspects…
View article: A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation
A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation Open
B-cell lymphoma/leukemia 11B (BCL11B) is a C 2 H 2 zinc finger transcription factor that is critically important for regulating the development and function of a variety of systems including the central nervous system, the skin, and the im…
View article: Diversity in pediatric dermatology: A report from the Pediatric Dermatology Research Alliance and a call to action
Diversity in pediatric dermatology: A report from the Pediatric Dermatology Research Alliance and a call to action Open
Background/Objectives The Pediatric Dermatology Research Alliance (PeDRA) connects pediatric dermatologists, trainees, basic scientists, allied health professionals, and patient advocates to improve the lives of children with skin disease …
View article: Integrating dermatology services into a social pediatrics network: 8 years of experience in the RICHER (Responsive, Interdisciplinary/Intersectoral, Child/Community, Health, Education and Research) program
Integrating dermatology services into a social pediatrics network: 8 years of experience in the RICHER (Responsive, Interdisciplinary/Intersectoral, Child/Community, Health, Education and Research) program Open
Social pediatric initiatives aim to improve health outcomes for vulnerable children by working in the community to empower families, to enhance protective factors that mitigate adverse childhood experiences (ACEs), and to deliver place‐bas…
View article: Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report
Ulcerated amelanotic melanoma of the ear in an 11 year old with Fitzpatrick VI skin type: A case report Open
Melanoma is rare in pediatric patients and even more so in those with darker Fitzpatrick skin types. Although risk factors for conventional melanoma are similar in both adult and pediatric cases, the presentation of melanoma in pediatric p…
View article: Barriers to healthcare access in pediatric dermatology: A systematic review
Barriers to healthcare access in pediatric dermatology: A systematic review Open
Barriers to healthcare access are healthcare inequities that have been widely studied across different medical specialties. No studies have previously evaluated the state of barriers to healthcare access research in pediatric dermatology. …
View article: Trametinib therapy for children with neurofibromatosis type 1 and life‐threatening plexiform neurofibroma or treatment‐refractory low‐grade glioma
Trametinib therapy for children with neurofibromatosis type 1 and life‐threatening plexiform neurofibroma or treatment‐refractory low‐grade glioma Open
Purpose To describe a series of children with extensive PNF or treatment refractory PLGG treated on a compassionate basis with trametinib. Methods We report on six patients with NF‐1 treated with trametinib on a compassionate basis at Brit…
View article: Identifying gaps in global health dermatology: a survey of GLODERM members
Identifying gaps in global health dermatology: a survey of GLODERM members Open
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
View article: Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy Open
View article: NFB-12. TRAMETINIB THERAPY FOR PEDIATRIC PATIENTS WITH REFRACTORY LOW GRADE GLIOMA OR EXTENSIVE SYMPTOMATIC PLEXIFORM NEUROFIBROMA
NFB-12. TRAMETINIB THERAPY FOR PEDIATRIC PATIENTS WITH REFRACTORY LOW GRADE GLIOMA OR EXTENSIVE SYMPTOMATIC PLEXIFORM NEUROFIBROMA Open
OBJECTIVE Refractory symptomatic plexiform neurofibromas (PNF) and inoperable refractory low grade gliomas (LGG) pose a clinical challenge that may be life threatening. Phase 1 and 2 clinical trials of MEK inhibition with selumetinib in in…
View article: The 2020 International Alliance for the Control of Scabies Consensus Criteria for the Diagnosis of Scabies
The 2020 International Alliance for the Control of Scabies Consensus Criteria for the Diagnosis of Scabies Open
The 2020 IACS Criteria represent a pragmatic yet robust set of diagnostic features and methods. The criteria may be implemented in a range of research, public health and clinical settings by selecting the appropriate diagnostic levels and …
View article: Lice infestation causing severe anemia in a 4-year-old child.
Lice infestation causing severe anemia in a 4-year-old child. Open
Head lice infestation, or pediculosis capitis, is common in the pediatric population. In North America, pediculosis capitis affects up to 40% of children.[1][1] Management of this infection is often provided by primary care physicians and …