research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research Immunological control of skin development: from homeostasis to developmental pathologies
Immune cells are crucial for normal skin development and their dysfunction can cause skin disorders.
research Sphingolipid metabolism orchestrates the establishment of the adult hair follicle stem cell niche to control skin homeostasis
A specific enzyme is essential for proper hair follicle stem cell development and healthy skin.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Chemotherapy and the Skin: Understanding Dermatologic Side Effects
Recognizing and managing skin side effects from chemotherapy improves patient quality of life and treatment success.
research The Epithelial Stem Cell Niche in Skin
Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
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.
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 Síndrome do nevo de Becker
The document reports the first Brazilian case of a girl with Becker nevus syndrome, characterized by skin changes, breast underdevelopment, and scoliosis.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Cornification
Cornification is the process where living skin cells die to create a protective barrier, and problems with it can cause skin diseases.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Group IID, IIE, IIF and III secreted phospholipase A2s
Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
research The human keratins: biology and pathology
Keratins are crucial for cell stability, wound healing, and cancer diagnosis.
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Graft-versus-host disease
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 Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Dermatoloji ve Kozmetolojide D Vitamini
Vitamin D is crucial for skin health and managing skin diseases.
research Hair follicles modulate skin barrier function
Hair follicles play a crucial role in regulating skin barrier function.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.