research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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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 Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Degradation Of Human Hair By Papain
Papain and bisulfite break down human hair by dissolving parts of it.
research Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Alopecia Areata of Eyelashes: Regrowth After Injecting Triamcinolone Into the Eyebrow Area
Injecting triamcinolone into the eyebrow area may help eyelash regrowth in alopecia areata patients.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research A Comparison of Vertical Versus Transverse Sections for the Histopathologic Diagnosis of Alopecias
Transverse sections are better for non-scarring hair loss, vertical sections are better for lichen planopilaris, and either method works for other scarring hair loss types.
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 Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research A Japanese Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome with an MBTPS2 Mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research In Vitro Assembly Properties of Human Type I and II Hair Keratins
Different combinations of human hair keratins affect how hair fibers form.
research Analysis of Pediatric Dermatology Inpatient Consultations in a Pediatric Teaching Hospital
Most hospitalized children with skin issues were boys, with allergic skin diseases like atopic dermatitis being most common, and treatments were usually topical.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Hair Loss And Its Management In Children
The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
research Darier Sign: A Historical Note
Dermatologists diagnose and manage melanoma more effectively than general practitioners.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Scaly Papular Lesions: Treatment and Clinical Course of Actinic Keratosis
Topical imiquimod is as effective as 5-fluorouracil for treating actinic keratosis, with about a 5% risk of it turning into squamous cell carcinoma.
research Table of Contents
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Secondary Cicatricial and Other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research 20th Annual Symposium of the British Society of Pediatric Dermatology, 11-12 November 2005, Newcastle Upon Tyne, UK
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research Plastic Surgical Considerations in Pediatric Dermatologic Abnormalities
Treat pediatric skin issues with accurate diagnosis, multidisciplinary team, and various treatment options.
research Ichthyosis Follicularis Alopecia and Photophobia Syndrome: Transient Improvement with Oral Isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.