research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
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research Postgraduate seminar in pediatric dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
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 Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation
Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
research Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy
Triparanol therapy can cause hair loss and skin dryness without inflammation or damage to hair follicles or skin structures.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Skin diseases in the alpaca (Vicugna pacos): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006)
Many alpacas have skin diseases, with bacterial infections being the most common.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Sarcoidosis: Are there differences in your skin of color patients?
Sarcoidosis is more common and severe in Black patients than in Caucasians, requiring early diagnosis and treatment.
research Retinoids and Keratinization
Retinoids can help treat skin disorders by improving the skin's outer layer.
research Chemotherapy of psoriasis and other skin disorders with oral retinoids
Oral retinoids are effective for treating severe skin disorders but have reversible side effects and risks for pregnant women.
research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
research Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
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 Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
research Skin Manifestations of Hypothyroidism-A Clinical Study
Most people with hypothyroidism have skin problems like dry skin and hair loss.