research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
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research Endocrine and metabolic comorbidities in juvenile-onset systemic lupus erythematosus
JSLE patients often have more hormone and metabolism issues, so regular check-ups and preventing obesity can help.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research Plain Language Summaries
Eczema patients have a lower skin lipid to protein ratio, older and longer-staying hospital patients are more likely to get pressure ulcers, hair loss in AGA is linked to muscle degeneration, vitamin D deficiency is common in alopecia areata and linked to its severity, standard liver tests don't effectively detect fibrosis in psoriasis patients on methotrexate, and bullous pemphigoid patients have a higher death risk but combination therapy may reduce it.
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.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research Symptoms: Pruritic Skin Lesions
The woman has Discoid Lupus Erythematosus and needs specialist care.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research O-21 FROM ORAL LEVOTHYROXINE RESISTANCE TO INTRAVENOUS LEVOTHYROXINE HYPERSENSITIVITY: A CHALLENGING PRIMARY HYPOTHYROIDISM CASE
A woman with hypothyroidism developed an allergy to IV levothyroxine after being resistant to oral forms.
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 IL-1 alpha inhibits human hair follicle growth and hair fiber production in whole-organ cultures.
IL-1 alpha stops hair follicle growth and hair production.
research Exploring the effect of hsa-miR-19b-3p on IL-1R1 expression and serum levels in alopecia areata
Higher levels of IL-1R1 and hsa-miR-19b-3p may help diagnose and predict alopecia areata severity.
research Thrombophilia and Polycythemia in a Woman With Budd-Chiari Syndrome
A woman with Budd-Chiari syndrome improved after treatment and needs a liver transplant, highlighting the importance of considering non-criteria antiphospholipid syndrome in similar cases.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research C85. Right heart failure due to chronic thromboembolic pulmonary hypertension in systemic lupus erythematosus patient: a case report
SLE can increase the risk of blood clots, leading to heart failure, but treatment can improve heart function.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Inheritance-Specific Dysregulation of Th1- and Th17-Associated Cytokines in Alopecia Areata
Certain immune-related proteins are higher in people with alopecia and their healthy relatives, hinting at a genetic link.
research Mucinous Lupus Alopecia with Papulonodular Mucinosis as a Sole Cutaneous Manifestation of Systemic Lupus Erythematosus
A rare form of lupus caused hair loss and skin bumps, diagnosed through biopsy, improved partially with treatment.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Alopecia Universalis Associated with Ulcerative Colitis and The Role of Azathioprine
A man with complete hair loss and ulcerative colitis regrew hair after treatment with azathioprine.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up
JAK inhibitors may help improve symptoms in adults with APECED.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study
These gene variations are not linked to alopecia areata in Egyptians.