research The potential role of acetylcholine receptors in acne inversa (HS) pathogenesis
Acetylcholine receptors might be involved in the development of acne inversa and smoking could worsen the condition.
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research Suspected upadacitinib-associated drug hypersensitivity mimicking disease exacerbation in ulcerative colitis
Upadacitinib can cause hypersensitivity that worsens ulcerative colitis symptoms.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Genetics of Progeria and Aging
Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research SAHA syndrome: female androgenetic alopecia and hirsutism.
research 120 Identification of post-translationally modified trichohyalin epitopes responsible for triggering autoimmunity in alopecia areata
Trichohyalin in hair can trigger immune attacks in alopecia areata.
research Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient
Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research A Humanized Mouse Model of Hereditary 1,25-Dihydroxyvitamin D–Resistant Rickets Without Alopecia
Researchers created a mouse model of a type of rickets that does not cause hair loss.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
research Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Neurochemical and Immunocytochemical Studies of Catecholamine System in the Brindled Mouse
Brindled mice show abnormal catecholamine neuron development due to copper deficiency.
research Exceptional Clinical Response to Surgery in Somalian Child Affected by Hyper Secretive Adrenal Cortical Carcinoma
The 6-year-old Somalian girl fully recovered from her symptoms after successful surgery and treatment.
research Successful treatment with upadacitinib in concurrent atopic dermatitis, Crohn’s disease, alopecia areata, and eosinophilic gastropathy in a pediatric patient
Upadacitinib improved symptoms and hair regrowth in a teen with multiple autoimmune conditions.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Atypical presentation of Acrodermatitis enteropathica in a child: later onset with life-threatening severe extensive dermatitis and septic shock
Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research A case of recalcitrant pediatric Vogt-Koyanagi-Harada disease successfully controlled with adalimumab
Adalimumab helped control a child's severe eye disease when other treatments failed.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
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 High-sulfur protein deficient human hair: clinical aspects and biochemical study of two unreported cases of a variant type of trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
The hr gene is crucial for skin and hair health, with mutations causing hair disorders.