research [A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Glucocorticoid treatment improved symptoms in a girl with Satoyoshi disease.
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research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Generalized trichorrhexis nodosa
The hair disorder was caused by abnormal protein formation, making hair easily damaged.
research Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Unique Cutaneous Reaction to Second- and Third-Generation Tyrosine Kinase Inhibitors for Chronic Myeloid Leukemia
Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.
research Canine Zinc-Responsive Dermatosis
Dogs with zinc-responsive dermatosis need zinc supplements or dietary changes for treatment.
research Phénylcétonurie de l’adulte : manifestations neurologiques et modalités évolutives
Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
research Mutation analysis of the typeIIhair keratin gene in a family of Han nationality with monilethrix
A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
research Dermoscopy and Ultraviolet-Enhanced Fluorescence Dermoscopy (UEFD) Increase the Accuracy of Diagnosis and Are Useful in Assessing the Effectiveness of Kerion celsi Treatment
Advanced dermoscopy techniques improve diagnosis and treatment monitoring for Kerion celsi but don't guarantee full hair regrowth.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research A Case of Steatocystoma Multiplex in a Psoriatic Patient during Treatment with Anti-IL-12/23
Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Keratosis Pilaris-like Eruption during Treatment of Chronic Myeloid Leukemia with Tyrosine Kinase Inhibitors: Literature Review and Report of a Case Related to Imatinib
Some leukemia treatments can cause skin reactions similar to keratosis pilaris.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Adult Kawasaki Disease: Report of Two Cases and Literature Review
Kawasaki Disease is rare and often missed in adults, who show different symptoms than children, and may benefit from early treatment.
research Is the Loose Anagen Hair Syndrome a Keratin Disorder?
Loose anagen hair syndrome may be caused by keratin gene mutations.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Answers to Dermatophile questions
Kerion, a severe scalp infection, causes hair loss and needs oral antifungal treatment.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.