research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
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research Differential Diagnosis of Hair Loss in Children
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 Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Gastrointestinal Polyposis with Protein-Losing Enteropathy, Abnormal Skin Pigmentation, and Loss of Hair and Nails (Cronkhite-Canada Syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
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 Nail Relationship: A Comparative Study
Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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.
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 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 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.