research Difficult and Rare Forms of Acne
The document talks about hard-to-treat and rare acne types, their connection with other health issues, the importance of correct diagnosis, and the challenges in managing them.
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810-840 / 1000+ results research Acrodermatitis Enteropathica-Like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research An Epistatic Effect of KRT25 on SP6 Is Involved in Curly Coat in Horses
The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report
A 4-year-old boy with a rare type of rickets and hair loss improved in bone health but not hair growth after vitamin D and calcium treatment.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Wound Healing Impairment in Type 2 Diabetes Model of Leptin-Deficient Mice: A Mechanistic Systematic Review
Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Ichthyosis Linearis Circumflexa in a Child: Response to Narrowband UVB Therapy
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Matriptase Expression and Zymogen Activation in Human Pilosebaceous Unit
Matriptase is highly active in hair follicles and sebaceous glands, especially during hair growth phases.
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 Mixed Form of Hirsutism in Adolescent Females and Laser Therapy
Laser hair removal is effective for hirsutism when combined with treatment for the underlying causes.
research Rectangular-Patterned Occipital Alopecia Areata: A Report of Three Cases
Sudden, unusual hair loss may indicate serious underlying health issues.
research Topical Corticosteroid in Foam Vehicle Offers Comparable Coverage Compared with Traditional Vehicles
Foam corticosteroid covers as well as traditional forms.
research Renal Tubular Dysfunction Presenting as Recurrent Hypokalemic Periodic Quadriparesis in Systemic Lupus Erythematosus
A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.
research Cerebellar Hypoplasia, Hypergonadotrophic Hypogonadism, Retinitis Pigmentosa, Alopecia, Microcephaly, Psychomotor Retardation, and Short Stature: D-CHRAMPS Syndrome
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Varying Presentation of Type 1 Polyglandular Failure in India
In India, most patients with type 1 autoimmune polyglandular failure show symptoms in a specific order, starting with parathyroid gland issues, then yeast infections, and finally adrenal gland failure.
research Diagnostic Imaging in Congenital Adrenal Hyperplasia: How Does It Help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Congenital Atrichia Associated With Nevus Flammeus: A Rare Association
A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
research CaBP1 and 2 Enable Sustained CaV1.3 Calcium Currents and Synaptic Transmission in Inner Hair Cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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 Harlequin Ichthyosis
research Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia
A 17-year-old in Saudi Arabia was diagnosed with a rare skin condition causing red-brown facial patches.
research Navaratnas in Dermatology
Gemstones are used to help describe and remember skin conditions.