research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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150-180 / 946 results research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research Congenital atrichia and hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Metabolism and skin diseases
Skin health and diseases are closely linked to metabolic processes.
research Exploring the Relationship Between Ichthyosis and Scalp Paresthesia: Potential Connection and Treatment Approach with Fluocinolone
Fluocinolone may help treat scalp symptoms in ichthyosis patients.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Trichodystrophies: A hair-raising differential diagnosis
The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
research Disorders of the Hair and Nails
The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
research When Rare Meets Risky: Clouston Syndrome with Cutaneous Squamous Cell Carcinoma
Clouston syndrome can lead to skin cancer, so monitoring is crucial.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Ischemic onycholysis of the hands
A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
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 Oral Retinoids in Dermatology
Oral retinoids are effective for severe skin conditions but require careful use due to side effects.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Dermoscopy — 4th Conference of the Section of Dermoscopy and Other Skin Imaging Techniques (DiTOS) of the Polish Dermatological Society — Abstracts
Hair loss can be caused by cancer, treatments, or skin conditions, and trichoscopy helps diagnose it.
research Uncombable hair syndrome: Observations on response to biotin and occurrence in siblings with ectodermal dysplasia
Biotin improved hair growth and combability in one child with uncombable hair syndrome.
research Dupilumab: A Review of Present Indications and Off-Label Uses
Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
research Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
The research identified new skin traits in mice, some linked to human skin conditions.
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 Guidelines for the Use of Acitretin in Psoriasis
Acitretin is effective for severe psoriasis and can be used long-term due to no immunosuppression, but must be carefully monitored for side effects and is not for pregnant women.
research Light microscopy of the hair: A simple tool to "untangle" hair disorders
Light microscopy is useful for diagnosing different hair disorders.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research Skin Manifestations of Hypothyroidism-A Clinical Study
Most people with hypothyroidism have skin problems like dry skin and hair loss.
research ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ
A newborn with ichthyosis was successfully treated using specific neonatal care methods.