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.
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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 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 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.
research Hair Loss in Children: Etiologies and Treatment
Early treatment of children's hair loss, which can be caused by various factors, is important due to its emotional impact.
research Clinical Snippets: Discoveries in Dermatology and Related Fields
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
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 Research Snippets: Dermatological Genetics and Conditions
New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Exome Analysis for Cronkhite-Canada Syndrome: A Case Report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Genetic Hair and Nail Disorders
Recent progress has been made in understanding inherited hair and nail disorders.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research Hair: More Than Just an Appendage
A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
research New-Onset Gastrointestinal Polyposis in a 60-Year-Old Man with Cronkhite-Canada Syndrome
A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.
research Analysis of Skin Graft Survival Using Green Fluorescent Protein Transgenic Mice
GFP transgenic mice help study cell origins in skin grafts.
research Twenty Nail Onychomadesis: An Unusual Finding in Cronkhite-Canada Syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research Clinical Presentations of Alopecia Areata
Alopecia areata causes varying hair loss patterns, affecting hair, nails, and possibly glands, with treatment outcomes depending on disease duration and extent.