research Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Early detection and biotin treatment improve outcomes for biotinidase deficiency.
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research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research BH08 Unprovoked pulmonary emboli in a patient with alopecia areata treated with ritlecitinib: a case report
Ritlecitinib may cause serious side effects like blood clots in alopecia areata patients.
research Severe Post-Bariatric Kwashiorkor Syndrome: A Case Report
Proper diet, monitoring, and protein supplements are crucial after bariatric surgery to prevent severe malnutrition.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Platelet-rich plasma as a potential antimicrobial agent against multidrug-resistant bacteria in diabetic foot infections
Platelet-rich plasma can temporarily inhibit some drug-resistant bacteria in diabetic foot infections.
research Faculty Opinions recommendation of Loss of desmocollin 3 in mice leads to epidermal blistering.
Loss of Desmocollin 3 in mice causes skin blisters and hair loss.
research 603 Degradation of aberrant NETs by DNases is a promising therapeutic strategy for SJS/TEN
Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Epidermolysis Bullosa
Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Efficacy of Activated Autologous Platelet-Rich Plasma in The Treatment of Diabetic Foot Ulcers: An Evidence-Based Brief Literature Review
Activated autologous platelet-rich plasma can improve healing in diabetic foot ulcers.
research The skin manifestations in end-stage renal disease patients in Jordan, single-center experience
Most end-stage renal disease patients in Jordan have skin issues like dryness and itching.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Inborn Errors of Metabolism
Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
research Platelets as Regenerative Cells, Hundreds of Opportunities in Sight
Platelets can help heal and regenerate tissues, but personalized methods are needed for best results.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
Calcium supplements improved bone deformities but not skin papules or hair loss.
research AN UNUSUAL CASE OF LYMPHOCYTIC ENTEROCOLITIS AND VASCULITIS AS THE INITIAL MANIFESTATION OF SLE
SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
research Cutaneous Markers of Disorders Affecting Adult Horses
Skin and hair changes in horses can indicate serious diseases, and recognizing these signs is important for treatment and management.
research Evaluation of Vitamin D and Hematological Parameters in Pediatric Non-Scarring Alopecias
Vitamin D deficiency is common in children with non-scarring alopecia, and managing it may help treatment.
research Keratin metabolism in the epidermis and hair of mice with experimental diabetes
Diabetes changes keratin in skin and hair, affecting their health.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Depressive Disorder and Dermatological Autoimmune Diseases
Depression and skin autoimmune diseases are linked, needing combined care for better treatment.
research Coexistence of psoriasis, and alopecia areata with trachyonychia in a pediatric patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Skin Disease
Skin diseases can greatly affect daily life and require careful treatment and medication review.
research Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency.
Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Case of Waldenstrom Macroglobulinaemia Mimicking Multiple Myeloma: A Diagnostic Challenge
Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.