research Coexistence of Woolly Hair and Monilethrix: A Case Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
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30 / 1000+ results research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research Dermatologic Manifestations of Endocrine Disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Diabetes, Ovarian Tumor, Hyperparathyroidism, and Papillary Cancer: A Chance Association?
The woman's rare combination of diseases suggests an unknown factor may predispose individuals to multiple endocrine diseases.
research Male Androgenetic Alopecia
Male pattern baldness involves hormone-related hair thinning, shorter hair, and inflammation.
research Typical Morphological Characteristics of the Skin Structure of the Hair Part of the Normal Human Head and with Hair Loss
Androgenic alopecia causes hair follicle degradation and skin restructuring, but some hair elements remain.
research Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Olanzapine-Induced Hair Loss: A Case Report
Increasing olanzapine caused hair loss in a woman, which stopped after changing medication.
research Ashwagandha Root in the Treatment of Non-Classical Adrenal Hyperplasia
Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Delayed-Onset Pachyonychia Congenita Caused by a Novel Mutation in the V2 Domain of Keratin 6B
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Australian Hair and Wool Research Society Cutaneous Biology and Endocrinology Workshop
The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
research Skin Manifestations in Primary Immunodeficient Children
Nearly half of children with primary immunodeficiency disorders showed skin problems, often as the first sign of their condition.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
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.
research Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome: Surgical and Medical Management in an Infant with Bilateral Corneal Perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Harnessing Neuroendocrine Controls of Keratin Expression: A New Therapeutic Strategy for Skin Diseases?
Using neurohormones to control keratin can lead to new skin disease treatments.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research A Nonsense Variant In KRT31 Is Associated With Autosomal-Dominant Monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Disorders of Pigmentation in Infants and Children
Vitiligo causes white skin patches, often starts before age 20, and is linked to other health issues.