research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
Search
for
Sort by
Research
30 / 1000+ resultsresearch Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease
Fragile hair in children is rarely linked to trichothiodystrophy (TTD).
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 Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research HAIR AND SYSTEMATIC DISEASE
Hair loss can indicate underlying systemic diseases and addressing these can sometimes reverse the hair loss.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research The proteomic profile of hair damage
Bleaching hair damages protein structure, especially keratin, leading to weakened hair.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Disorders of hair in children
The document concludes that accurate diagnosis and understanding the type of hair disorder are crucial for treating hair loss in children.
research Structural abnormalities of the hair shaft
The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Metabolism and skin diseases
Skin health and diseases are closely linked to metabolic processes.
research Westwood Carolina Conference on Clinical Dermatology
The conference concluded that understanding hair and nail disorders is important, iron deficiency may be linked to hair loss, and while some treatments for skin conditions are effective, they may have risks and high costs.
research Trichoscopy in genetic hair shaft abnormalities
Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
research Hair loss in children.
Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
research SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT
Assessing newborn scalp hair can reveal important health information.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Dissecting hair breakage in alopecia areata: the central role of dysregulated cysteine homeostasis
Disrupted cysteine metabolism may cause hair breakage in Alopecia Areata, suggesting potential treatments like N-acetylcysteine.
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 Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables
Mutant mice help researchers understand hair growth and related genetic factors.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research AN UPDATE OF HAIR SHAFT DISORDERS
Advances in genetics may lead to targeted treatments for hair disorders.
research Shedding light on cashmere goat hair follicle biology: from morphology analyses to transcriptomic landascape
The research found genes that change during cashmere goat hair growth and could help determine the best time to harvest cashmere.
research Human Hair Keratin-Associated Proteins
Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.
research Morphological Approach to Hair Disorders
Accurate clinical, histological, and genetic methods are key for understanding and treating hair disorders.