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.
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research Skin Manifestations Associated With Systemic Diseases – Part I
The conclusion is that early diagnosis of skin signs linked to diseases like Lupus, Dermatomyositis, and Rheumatoid Arthritis is crucial to prevent serious complications.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Adverse Reactions to Oral Retinoids: An Update
Oral retinoids can cause side effects ranging from mild to severe, including birth defects, and require careful monitoring and contraception.
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 Clinical Cases of Darier-White Follicular Dyskeratosis
Darier-White disease causes skin and nail issues, starts around age 20, worsens until 40-50, and has poor treatment options.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Management of Primary Cicatricial Alopecias: Options for Treatment
There are many treatments for permanent hair loss disorders, but their effectiveness varies and there's no clear best option.
research Minoxidil-Induced Trichostasis Spinulosa of Terminal Hair
Minoxidil use can cause trichostasis spinulosa in long-term hair loss patients.
research Frequency of Childhood Dermatological Diseases: An Analysis of 8551 Cases
Acne was the most common skin problem in kids, with other conditions like warts and eczema also frequent, varying by age and gender.
research Graft-Versus-Host Disease: Comprehensive Overview by the American Academy of Dermatology
Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
research Follicular Ichthyosis: A Study of Four Patients with Congenital Follicular Hyperkeratosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Ichthyosis Follicularis with Alopecia and Photophobia in a Mother and Daughter
A mother and daughter had severe skin, hair, and eye issues linked to IFAP.
research Keratosis Pilaris Is a Keratinization of Hair Follicles
Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Ichthyosis Fetalis in a Cross-Bred Lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
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 Retinoids and Keratinization
Retinoids can help treat skin disorders by improving the skin's outer layer.
research Dermatological Aspects of the S2k Guidelines on Down Syndrome in Childhood and Adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
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 Off-Label Uses of Topical Vitamin D in Dermatology: A Systematic Review
Topical vitamin D is useful for some skin conditions but not effective for others, and more research is needed.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research The Inconsistent Regulation of HOXC13 on Different Keratins and the Regulation Mechanism on HOXC13 in Cashmere Goat (Capra Hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research Triad of Keratosis Pilaris, Ulerythema Ophryogenes, and 18p Monosomy: Zouboulis Syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Keratosis Pilaris
Keratosis pilaris is a common skin condition causing a bumpy texture, sometimes linked to other diseases, with various treatments available.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: A Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
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
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.