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.
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300-330 / 1000+ results research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
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 Clinical Case Notes: Propecia-Associated Bilateral Cataract
Taking Propecia might lead to the development of cataracts.
research Hair Loss Among a Group of Egyptian Children
Fungal infection was the main cause of hair loss in Egyptian children studied.
research Transcriptional Activation of a Subset of Hair Keratin Genes by the NF-κB Effector p65/RelA
The NF-κB effector p65/RelA activates hair keratin genes, aiding hair formation.
research Disorders of the Hair and Scalp in Children
The document concludes that various hair and scalp disorders in children have specific treatments and proper diagnosis is essential.
research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Monilethrix Syndrome: Clinical Insights and Diagnostic Criteria
Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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 Analogs of Human Genetic Skin Disease in Domesticated Animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Understanding Skin Morphogenesis Across Developmental, Regenerative, and Evolutionary Levels
The article concludes that studying how skin forms is key to understanding skin diseases and improving regenerative medicine.
research Alopecia in Cronkhite-Canada Syndrome: A Case Report
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth) Syndrome: A Case Report from India
Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
research Micro-Morphometric Study of Skin in Developing Human Fetuses and Its Clinical Relevance
Understanding fetal skin development helps diagnose congenital skin diseases.
research Clinical Features of Taste Disorders in Cronkhite-Canada Syndrome: A Report of 10 Cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research Short Anagen Hair Syndrome Is Caused by Mutations in the WNT10A Gene and Has a Genetic Overlap With Male Pattern Hair Loss
Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Deletion of Hoxc13 in Frogs Reveals Key Steps in the Molecular Evolution of Cornified Skin Appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
research Dermatological Diseases from a Genetic Perspective
New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
research Mediator 1 Ablation Induces Enamel-to-Hair Lineage Conversion Through Enhancer Dynamics
Removing Mediator 1 causes teeth cells to turn into hair cells.
research Clouston’s Syndrome: A Rare Case Report
Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Strange Cutaneous Abnormalities and Polyposis in an Asian Man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.