research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
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research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research The hair shaft: normality, abnormality, and genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Eruptive vellus hair cysts: an original case occurring in twins
Twins had rare skin cysts likely due to genetics.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Subepithelial superficial lymph vessels in the airway: a histological study using human fetuses and elderly cadavers
Lymph vessels in airways vary by location, with the most in the upper pharynx and changes after birth.
research The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
Consider NF1 in newborns with rare congenital anomalies.
research Loose Anagen Hair Syndrome in a Saudi Girl
A Saudi girl was diagnosed with Loose Anagen Hair Syndrome, a rare condition causing easy hair loss without scarring.
research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Book Review Disorders of Hair Growth: Diagnosis and Treatment Second edition. Edited by Elise A. Olsen. 544 pp., illustrated. New York, McGraw-Hill, 2003. $195. 0-07-136494-3
The book is a comprehensive resource on hair disorders, but lacks information on some conditions.
research Abstracts from the Symposium on the Pathophysiology of Hair Growth Organized by the Institute of Dermatology at the Royal Society of Medicine, 29 October 1987
The symposium concluded that hair growth involves complex processes, including the hair follicle life cycle, the role of the dermal papilla, hair strength, pigmentation, and the impact of diseases and treatments like minoxidil on hair and skin.
research Current Status of the Applications of Conditioned Media Derived from Mesenchymal Stem Cells for Regenerative Medicine
Conditioned media from mesenchymal stem cells show promise for tissue repair and disease treatment, but more research is needed on their safety and effectiveness.
research Issue Information - TOC
The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
research Skin of the Baikal seal (<i>Pusa sibirica</i>, Phocidae): norm and pathology
Baikal seals' skin shows normal adaptations and potential pathologies possibly linked to climate change and a viral pathogen.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Abstract ED05-04: Presurgical models to effectively screen preventive agents
Presurgical models can effectively and affordably screen cancer prevention agents.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Value of dermoscopy for the diagnosis of monilethrix
Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.
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 PandaOmics: An AI-Driven Platform for Therapeutic Target and Biomarker Discovery
PandaOmics uses AI to find new disease treatment targets and biomarkers.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Photobiomodulation: A Systematic Review of the Oncologic Safety of Low-Level Light Therapy for Aesthetic Skin Rejuvenation
Photobiomodulation is safe for skin rejuvenation, even for those with a cancer history.