research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
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720-750 / 1000+ results research Risk of Safety Events in Vitiligo Patients: A Retrospective Real‐World Data Study in the US
Vitiligo patients have higher risks of autoimmune diseases, infections, and skin cancer.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
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 Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Virtual memory is a big hairy deal
CD8+ virtual memory T cells may cause hair loss in alopecia areata.
research A97 TACROLIMUS-ASSOCIATED HEMOLYTIC UREMIC SYNDROME IN A PEDIATRIC LIVER TRANSPLANT RECIPIENT
An 8-year-old boy developed a rare condition after a liver transplant, which improved after changing his medication.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Clinical cases of Darier-White follicular dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
research Granulomatosis Disciformis Chronica et Progressiva With Lymphadenopathy
A 31-year-old man has a chronic skin condition with red plaques, hair loss, and swollen lymph nodes.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research Haff disease associated with the ingestion of the freshwater fish Mylossoma duriventre (pacu-manteiga)
Eating pacu-manteiga fish can cause Haff disease, leading to severe muscle damage.
research Zinc and Growth with Picky Eating in a Jordan Pediatric Clinic: An Observational Study
Picky eating in children is linked to lower weight, hemoglobin, vitamin D, and zinc levels.
research Treatment of discoid lupus erythematosus scarring alopecia with deucravacitinib: A case report
Deucravacitinib helped regrow hair and reduce plaques in a woman with discoid lupus erythematosus without side effects.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Atrophying scamous papulous dermatitis (Degos disease): Nine years of follow-up
A woman with Degos disease managed her condition for nine years with medications and had two healthy pregnancies, while a separate finding suggests a possible link between female pattern hair loss and high blood pressure.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Biotinidase Deficiency and Seizures
Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.
research Down-RANKing the Threat of HSV-1: RANKL Upregulates MHC-Class-I-Restricted Anti-Viral Immunity in Herpes Simplex Virus Infection
RANKL improves the immune response against herpes simplex virus by enhancing T cell activation and could help develop better treatments or vaccines.
research Tinea Capitis in The Netherlands (Rotterdam Area)
Most tinea capitis cases in Rotterdam were caused by Trichophyton violaceum, mainly affecting Moroccan immigrant children.
research A Real‐World Disproportionality Analysis of Avacopan in Anti‐Neutrophil Cytoplasmic Antibodies Associated Vasculitis: Insights From FDA Adverse Event Reporting System
Avacopan may cause unexpected side effects, so early monitoring is important.
research Acute Disseminated Paracoccidioidomycosis with Molluscoid Lesions in a Young Woman
A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
research Post SARS-CoV-2 vaccination effluvium
research THE RELATION BETWEEN VITILIGO AND OTHER AUTOIMMUNE DISORDERS
Vitiligo is often found with other autoimmune diseases, which is important to know to help patients.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.