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.
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30 / 118 resultsresearch Characterization of an Autoimmune Condition Associated with AEC Syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Mutations In AEC Syndrome Skin Reveal A Role For p63 In Basement Membrane Adhesion, Skin Barrier Integrity And Hair Follicle Biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
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 A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
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 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 Hair Shaft Abnormalities: Clues to Diagnosis and Treatment
Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
research Uncombable Hair Syndrome and Beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Careless Talk Costs Lives: Fibroblast Growth Factor Receptor Signalling and the Consequences of Pathway Malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research P63 Targeted Deletion Under the FOXN1 Promoter Disrupts Pre- and Post-Natal Thymus Development, Function, and Maintenance, and Induces Severe Hair Loss
Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
research Developing Stratified Epithelia: Lessons from the Epidermis and Thymus
The skin and thymus develop similarly to protect and support immunity.
research iTRAQ-Based Quantitative Proteomics Revealing the Therapeutic Mechanism of a Medicinal and Edible Formula YH0618 in Reducing Doxorubicin-Induced Alopecia by Targeting Keratins and TGF-β/Smad3 Pathway
YH0618 helps reduce chemotherapy-induced hair loss by targeting specific proteins and pathways.
research All Roads Lead to the Nucleus: Integration of Signaling, Transcription Factor-Mediated, and Epigenetic Regulatory Mechanisms in the Control of Skin Development and Regeneration
The nucleus is key in controlling skin growth and repair by coordinating signals, gene regulators, and epigenetic changes.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
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 STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research The Possibilities of Using Chromium Salts as an Agent Supporting Treatment of Polycystic Ovary Syndrome
Chromium salts may help with insulin sensitivity in PCOS, but more research is needed to confirm their overall effectiveness and safety.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Dermatologic Side Effects of Psychotropic Medications
Psychotropic medications can cause skin reactions, including severe conditions like SJS and TEN, and it's important for psychiatrists to recognize and manage these side effects.