research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
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research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Anti-SRP Antibody-positive Myopathy with Universal Alopecia and Multiple Vitiligo
Autoimmune myopathy may be linked to hair loss and skin depigmentation.
research 127 Quality of life in patients with connective tissue diseases: results from the Lupus Extended Autoimmune Phenotype (LEAP) study
Many lupus patients experience hair loss, which is linked to anxiety and other skin issues.
research Systemic tofacitinib in paediatric alopecia areata
research Topical Janus kinase inhibitors for the treatment of pediatric alopecia areata
Topical JAK inhibitors may help children with alopecia areata regrow hair.
research Das Trichorhinophalangealsyndrom
Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Visceral Leishmaniasis Mimicking Autoimmune Hepatitis
Consider infectious diseases like visceral leishmaniasis before diagnosing autoimmune hepatitis.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Patient Considerations when Using Ritlecitinib for Alopecia Areata in Adolescents: Guidance for the Clinicians
Clinicians should consider individual factors and communicate risks and benefits when prescribing ritlecitinib for adolescent alopecia areata.
research Abstracts
Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.
research The Complex connection between Vitiligo and Lupus: Exploring the Link
Vitiligo and lupus can occur together, requiring careful treatment to manage both conditions.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
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 Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Concomitant occurrence of acneiform eruption, alopecia areata, and urticaria during adalimumab treatment in a patient with pustulosis palmoplantaris: Case report and literature review
A patient with PPP had rare skin reactions to adalimumab, which improved after stopping smoking and continuing acitretin.
research A 25-year-old female with a variable presentation of MCTD-A case report
Careful diagnosis and management of MCTD are crucial due to potential severe complications.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis
JAK inhibitors are effective in treating various immune-related diseases, not just rheumatoid arthritis.
research Case Report: High Dose Vitamin D & Anti-inflammatory Diet (Systemic Lupus Erythematosus & Alopecia Areata)
High-dose vitamin D and an anti-inflammatory diet may help improve symptoms in autoimmune conditions like SLE and AA.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Egr-1 is main key regulator in IL-17F-induced psoriasin expression in human keratinocytes
Psoriasis is linked to a higher risk of autoimmune diseases and other health conditions.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research A Paediatric Case of Severe Allergic Conjunctivits with Underlying Alopecia Areata
Early and proper treatment is crucial for children with allergic conjunctivitis to avoid complications.
research Satisfaction with control of systemic lupus erythematosus and lupus nephritis: physician and patient perspectives
Both patients and physicians are often dissatisfied with the control of systemic lupus erythematosus and lupus nephritis.
research Spiny Hyperkeratotic Projections on the Face and Extremities of a Kidney Transplant Recipient—Quiz Case
A kidney transplant patient developed pink skin bumps with spiny centers on her face and limbs.
research Dermatoscopy case of the month: Trichodysplasia spinulosa
A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
research Association of alopecia areata with atopic dermatitis and chronic spontaneous urticaria
People with alopecia areata often have higher rates of allergies and autoimmune diseases.