research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
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240-270 / 1000+ resultsresearch The PDE4 inhibitor, apremilast, suppresses experimentally induced alopecia areata in human skin in vivo
Apremilast may help treat hair loss in alopecia areata.
research Reconstitution of full-thickness skin by microcolumn grafting
Microcolumn grafting can effectively regenerate full-thickness, functional skin without scarring.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Metabolic syndrome and dermatological diseases: association and treatment
Metabolic syndrome is linked to skin diseases, requiring integrated treatment and monitoring.
research Eccrine angiomatous hamartoma
The girl's skin condition is benign but challenging to treat due to its size and location.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research SARS-CoV-2 Infection and Alpha-Synucleinopathies: Potential Links and Underlying Mechanisms
COVID-19 may worsen Parkinson's disease by affecting certain brain proteins.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients
Thyroid disorders can cause skin issues in children, so early detection and screening are important.
research Symptomatology of Long COVID Associated with Inherited and Acquired Thrombophilic Conditions: A Systematic Review
Thrombophilic conditions may worsen Long COVID symptoms due to increased blood clotting.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism
Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Idiopathic isolated adrenocorticotropic hormone deficiency combined with testicular germ cell tumor: Case report
A potential link exists between unexplained hormone deficiency, hair loss, and testicular tumors, suggesting thorough screening is needed.
research The Impact of Chemotherapy on the Nutritional Status of Breast Cancer Patients
Chemotherapy worsens nutritional status in breast cancer patients, requiring targeted nutritional strategies.
research The Nutrient–Skin Connection: Diagnosing Eating Disorders Through Dermatologic Signs
Skin, hair, and nail changes can help detect eating disorders early.
research The Hair-An Syndrome: A Report of a Misdiagnosed Case with Unfortunate Outcome
A misdiagnosed case of HAIR-AN syndrome led to unnecessary surgeries and highlighted the importance of correct diagnosis and treatment.
research Influence of Extended Photoperiod Using Blue Light Masks on Hypertrichosis, Coat Condition and General Health Parameters in Horses with Pituitary Pars Intermedia Dysfunction
Blue light masks improved coat condition and energy in horses with PPID.
research Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak
Drug repositioning offers a cost-effective, lower-risk way to treat diseases and pandemics like COVID-19.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Hidradenitis suppurativa: A practical review of possible medical treatments based on over 350 hidradenitis patients
Different treatments for Hidradenitis suppurativa range from antibiotics and hormonal therapies to surgery, depending on severity.
research Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing
PCOS management includes lifestyle changes and medications, with ongoing research into repurposed drugs for better treatment options.
research Oral isotretinoin for acne
Oral isotretinoin may slightly improve acne but increases the risk of side effects like dry lips and skin; more research is needed to understand its full risks and benefits.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Frontal fibrosing alopecia: An update on the hypothesis of pathogenesis and treatment
The document concluded that more research is needed to find the best treatment for Frontal fibrosing alopecia.