research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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150-180 / 1000+ resultsresearch 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 Collodion baby case series: the success of oral retinoic acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research A Rare Case of Keratosis Follicularis Spinulosa Decalvans Affecting a Female Child
A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.
research Hair follicles modulate skin barrier function
Hair follicles play a crucial role in regulating skin barrier function.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Noncalcemic actions of 1,25-dihydroxyvitamin D3 and clinical applications
Vitamin D3 is important for bone health and may help treat various diseases beyond bone-related 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 Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders
A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
research Hair Shaft Abnormalities – Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Hair loss and its management in children
The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
research Hair Shaft Dysplasias
Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
research Hair loss
Hair loss has many causes and treatments, and losing some hair daily is normal; proper diagnosis is key, and minoxidil can help treat it.
research Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Paint brush hair: a case report
Shaving and avoiding brushing improved the patient's beard hair condition.
research Oral retinoids-present status
Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
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 Madarosis
Madarosis is the loss of eyelashes and eyebrows due to various health issues and requires thorough examination to diagnose and treat the underlying cause.