research CENTRAL STATES DERMATOLOGICAL SOCIETY
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
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810-840 / 1000+ resultsresearch Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research Long‐term efficacy and safety of baricitinib in patients with severe alopecia areata: 104‐week results from BRAVE‐AA1 and BRAVE‐AA2
Baricitinib is effective and safe for long-term use in severe alopecia areata, improving hair regrowth and quality of life with few side effects.
research VITAMIN D DEPENDENT RICKETS TYPE II (VDR-11). RESPONSE TO PROLONGED THERAPY WITH NOCTURNAL CALCIUM INFUSIONS
Nocturnal calcium infusions improved a boy's severe rickets without causing hair loss.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Integrated safety analysis of baricitinib in adults with severe alopecia areata from two randomized clinical trials
Baricitinib for severe alopecia areata is generally safe, with common side effects like infections and acne, and low rates of serious complications.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits.
A single recessive gene causes sparse hair in certain Japanese White rabbits.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
research 53274 Real-world experience of efficacy and safety of baricitinib in Korean patients with severe alopecia areata
Baricitinib 4 mg is effective and safe for treating severe alopecia areata.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Phase II study of safusidenib erbumine in patients with chemotherapy- and radiotherapy-naïve isocitrate dehydrogenase 1-mutated WHO grade 2 gliomas
Safusidenib erbumine shows promise as a treatment for certain brain tumors, but mild side effects like hair loss need attention.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Characterizing Loss of Response Occurring in a Small Number of Patients During 3 Years of Long-Term Maintenance Therapy with Baricitinib 4-mg: Results From BRAVE-AA1 and -AA2 Trials
Some patients on Baricitinib for alopecia areata lost response, often linked to longer and more severe initial conditions.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Macrocytosis and pseudoalbinism: Manifestations of selenium deficiency
Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research 452 Braicitinib treatment reduced the expansion of CD8+ T cells in C3H mice with skin grafts-induced alopecia areata
Baricitinib treatment helped reduce hair loss symptoms in mice by decreasing inflammation-related immune cells.
research SYNTHESIS OF INOSITOL IN MICE
Mice need pantothenic acid to make inositol.
research Hair loss in long-term or home parenteral nutrition: are micronutrient deficiencies to blame?
Micronutrient deficiencies may cause hair loss in people on long-term parenteral nutrition.
research Reporte de caso: alopecia areata universal tratada exitosamente con baricitinib
Baricitinib successfully treated severe hair loss.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Lichen Spinulosus: Case Report and Review of Literatures
A 12-year-old boy's rare skin condition improved with topical treatments and may resolve by puberty.
research Alopecia areata incognita
A young woman with a rare hair loss condition improved with steroid and biotin treatment.