research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
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research Dermatomyositis Disease in Dogs
Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.
research Multiple Basal Cell Carcinomas in a Patient with Myotonic Dystrophy Type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Efficacy of Dupilumab in Treating Atopic Dermatitis With Recurrent Eczema Herpeticum in a Patient With DOCK8-Deficiency Hyper-IgE Syndrome: A Case Report
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
research Targeting Integrin Pathways: Mechanisms and Advances in Therapy
New therapies are being developed that target integrin pathways to treat various diseases.
research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Hair: More Than Just an Appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
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 A Multicenter Evaluation of 10% Sulfacetamide Sodium in a 10% Urea Vehicle Scalp Treatment Lotion and a 10% Urea Deep Cleansing Antibacterial Shampoo for the Treatment of Seborrheic Dermatitis of the Scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.
research Treatment of Hypotrichosis Simplex of the Scalp with the Combination of Botanical Extracts and Minoxidil: A Case Report
Combining minoxidil and plant extracts improved hair growth in a boy with a rare genetic disorder.
research Two Mouse Mutations Mapped to Chromosome 11 with Differing Morphologies but Similar Progressive Inflammatory Alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research N-Terminal Functional Domain of Gasdermin A3 Regulates Mitochondrial Homeostasis via Mitochondrial Targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research The Color of Skin: White Diseases of the Skin, Nails, and Mucosa
The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
research Alopecia in Women Submitted to Childhood X-Ray Epilation for Tinea Capitis Treatment
Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Early Leonine Facies with Alopecia in a Young Man
A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
research Treatment Options for Androgenetic Alopecia: Efficacy, Side Effects, Compliance, Financial Considerations, and Ethics
Combination therapies for androgenetic alopecia work best but can have significant side effects and costs.
research The Noggin Null Mouse Phenotype Is Strain Dependent and Haploinsufficiency Leads to Skeletal Defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Phytoestrogens and Early Onset Androgenic Alopecia: A Study in Ndola, Zambia
Eating a lot of soy might lower the chance of early hair loss in men likely to get it.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
research Polycystic Ovary Syndrome: Diagnosis, Symptoms, and Management
PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
research Localized Acquired Hypertrichosis Associated with the Application of a Splint
A 16-year-old boy's arm hair grew more after wearing a splint, but it returned to normal in 8 months.