research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
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750-780 / 1000+ resultsresearch Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research Recent Understandings of Biology, Prophylaxis and Treatment Strategies for Hypertrophic Scars and Keloids
The document concludes that the understanding of scar formation is incomplete and current prevention and treatment for hypertrophic scars and keloids are not fully effective.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Adams–Oliver syndrome: new evidence in variable expressivity?
The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
research The sternum reconstruction: Present and future perspectives
New techniques and materials improve sternum reconstruction and patient quality of life.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Ontogenetic Transition in Fetal Wound Transforming Growth Factor-β Regulation Correlates with Collagen Organization
Fetal wound healing changes with development, affecting inflammation and collagen, which may influence scarring.
research Twenty-Nail Dystrophy of Alopecia Areata
"20-nail dystrophy" can have multiple causes.
research Evaluation of body dysmorphic disorder in hair loss patients and benefit after hair restoration
Hair transplant improved self-perception in hair loss patients, but some still remained overly focused on their hair appearance.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Cutaneous Manifestations of Eating Disorders
Eating disorders can cause skin problems that need treating the underlying condition for better health.
research Aesthetic Management of External Skin Paddles Following Microvascular Reconstruction of the Head and Neck
Improve skin paddle appearance after head and neck reconstruction using tissue expansion, rearrangement, and flaps.
research Nail abnormalities in patients with vitiligo
Vitiligo patients often have nail problems, so checking their nails is important.
research Korea, non-commercial use of compulsory licenses and the pattern of power
Current wound healing treatments are imperfect, and better therapies are needed.
research Impaired skin and hair follicle development in Runx2 deficient mice
research Disorders linked to insufficient androgen action in male children
Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
research Surgical approach of ectropion in lamellar ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Revision Surgical Hair Restoration: Repair of Undesirable Results
Unsatisfactory hair restoration results can be significantly improved with strategic hair redistribution and new donor hair placement, despite previous surgery challenges.
research Bone morphogenetic proteins 4 and 2/7 induce osteogenic differentiation of mouse skin derived fibroblast and dermal papilla cells
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Two different techniques for frontalis suspension using Gore-Tex to treat severe congenital ptosis
Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research Alopecias
research ИССЛЕДОВАНИЕ ФИЗИЧЕСКОГО СОСТОЯНИЯ МЫШЦ ДЕТЕЙ, ИМЕЮЩИХ ОТКЛОНЕНИЯ В СОСТОЯНИИ ЗДОРОВЬЯ В УСЛОВИЯХ ЦЕНТРА СОЦИАЛЬНОЙ ОБСЛУЖИВАНИЯ
Functional tests and manual muscle testing effectively assess muscle performance in children with health issues.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Keratinization and its Disorders
Mutations in keratin genes can cause skin and mucosa disorders.