research Refractory dermatomyositis–systemic lupus erythematosus overlap syndrome and response to tofacitinib
Tofacitinib successfully treated a woman's severe symptoms from a rare autoimmune condition.
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900-930 / 1000+ resultsresearch Congenital atrichia associated with nevus flammeus: A rare association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research An 85-Year-Old Man With Recurrent Fever and Multiple Splenic Infarcts
Travel history and tick-borne diseases should be considered in unexplained fevers for timely diagnosis and treatment.
research Rare and misdiagnosed entity fibrosing alopecia in a pattern distribution: A case report
A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
research 0935 Unravelling the role of JAK3/TEC kinase signalling with ritlecitinib in alopecia areata lesional skin and alopecia areata-induced human hair follicles ex vivo
Ritlecitinib reduces alopecia areata symptoms by blocking JAK3/TEC signaling and T-cell activity.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis
Filaggrin mutations are linked to atopic dermatitis and help explain how genetics and environment affect the disease.
research Early Diagnosis and Prompt Treatment Improves Quality of Life in Patients with Frontal Fibrosing Alopecia
Early diagnosis and quick treatment improve life quality for FFA patients.
research Diagnostic and Therapeutic Assessment of Frontal Fibrosing Alopecia
The document concludes that there are no reliable treatments for frontal fibrosing alopecia, with only temporary benefits from current options.
research Frontal Fibrosing Alopecia
Frontal fibrosing alopecia is a scarring hair loss condition mainly affecting postmenopausal women, with unclear causes.
research 331 An open label clinical trial of the JAK inhibitor tofacitinib for alopecia areata
Tofacitinib helped over half of the patients with severe hair loss regrow at least 50% of their hair.
research Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b–3 trial
Ritlecitinib effectively treats alopecia areata and is well-tolerated.
research 63418 JAK3/TEC kinase pathways are active in alopecia areata lesions, and their inhibition with Ritlecitinib prevents αCD3/αCD28+IL-2 induced immune privilege collapse in healthy hair follicles ex vivo
Ritlecitinib may help treat alopecia areata by protecting hair follicles.
research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Alopezien und Hypotrichosen im Kindesalter
Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
research Autotaxin-LPA signaling contributes to obesity-induced insulin resistance in muscle and impairs mitochondrial metabolism
Blocking the ATX-LPA pathway may improve insulin sensitivity and mitochondrial function in obesity.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Intracellular protons accelerate aging and switch on aging hallmarks in mice
Acid inside cells speeds up aging and turns on aging signs in mice.
research Ritlecitinib in severe alopecia areata: a profile of its use
Ritlecitinib effectively regrows hair in severe alopecia areata and is well tolerated.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
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 splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Pilotropic Mycosis fungoides
research Editors' Picks
Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
research Normalization of hair growth in sparse fur-abnormal skin and hair (SPF-ASH) mice by introduction of the rat ornithine transcarbamylase (OTC) gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica effectively.