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.
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30 / 1000+ results research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Hereditary Hypotrichosis and Localized Morphea: A New Clinical Entity
A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Disorders of the Hair and Nails
The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Secondary Cicatricial and Other Permanent Alopecias
The document says that treating the root cause of hair follicle damage is crucial to prevent permanent hair loss, and treatment options vary.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research An Update of Hair Shaft Disorders
Advances in genetics may lead to targeted treatments for hair disorders.
research Hair and Nail Disorders of Childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Congenital and Hereditary Skin Diseases in Bovines
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Corticosteroids for the Treatment of Duchenne Muscular Dystrophy
Corticosteroids, especially prednisone, improve short-term muscle strength in Duchenne muscular dystrophy but have manageable side effects.
research Short Anagen Syndrome
Short anagen syndrome involves a hair growth phase lasting 1.5 years.
research Inherited Epidermolysis Bullosa: Clinical and Therapeutic Aspects
The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Efficacy and Safety of Glucocorticoids in the Treatment of Progressive Muscular Dystrophy in Children: A Systematic Review and Meta-Analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.