research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
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180-210 / 743 results research Acquired Ichthyosis, Alopecia, and Loss of Hair Pigment Associated with Leiomyosarcoma
A woman's skin and hair conditions improved after her cancerous tumor was removed.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research Surgical Approach of Ectropion in Lamellar Ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Steroid-Resistant Nephrotic Syndrome Associated with Steroid Sulfatase Deficiency—X-Linked Recessive Ichthyosis: A Case Report and Review of Literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Topical Polyhydroxy Acid Treatment for Autosomal Recessive Congenital Ichthyosis in the Golden Retriever: A Prospective Pilot Study
Gluconolactone products can significantly reduce skin scaling in golden retrievers with ARCI.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Skin: Basic Structure and Function
The skin is a complex barrier that protects the body, regulates temperature, and helps with immune responses.
research Epidermis-Specific Ablation of Claudin-1 in Adult Mice Demonstrates the Essential Role of a Tight Junction Barrier in Skin Homeostasis
Claudin-1 is crucial for maintaining skin barrier and preventing inflammation.
research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome
Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
research Vitamins
High doses of certain vitamins can cause serious side effects and health risks.
research Oral Retinoids: Present Status
Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
research Androgenetic Alopecia: The Role of Inflammation and Demodex
Inflammation and Demodex mites might contribute to hair loss, and targeting them could help treat it.
research Tacrolimus in Dermatologic Disorders
Topical tacrolimus is safe and effective for skin conditions, but oral tacrolimus has serious side effects.
research Commentary: Darier-White Disease
The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.
research Viva Questions from the Indian Journal of Dermatology, Venereology, and Leprology
The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
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 Topical Tacalcitol Ointment Can Be a Good Therapeutic Choice in Erythromelanosis Follicularis Faciei et Colli
Topical tacalcitol ointment can help improve symptoms of EFFC.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Teratogenic Effect of Isotretinoin in Both Fertile Females and Males: A Review
Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research The Epidermis: Rising to the Surface
The document concludes that recent research has improved understanding of skin diseases and the balance between cell growth and differentiation in the epidermis.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
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 A Case of Twenty Nail Dystrophy Affecting a 12-Year-Old Boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.