research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
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research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Tissue Expansion for Correction of Alopecia in a Child with Hypohidrotic Ectodermal Dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
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 Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED) Due to AIRE T16M Mutation in a Consanguineous Greek Girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research The Gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a Large Indian Family Maps to the 13q11-q12.1 Pericentromeric Region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: A Comprehensive Review
The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
research Msx2 Deficiency in Mice Causes Pleiotropic Defects in Bone Growth and Ectodermal Organ Formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organs
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–Like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research Loose Anagen Hair Syndrome Associated with Macular Dystrophy: Description of a Family
Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Neural Potential of a Stem Cell Population in the Hair Follicle
Stem cells in hair follicles can become various cell types, including neurons.
research Prenatal Hair Development: Implications for Drug Exposure Determination
Neonatal hair can help determine drug exposure during pregnancy.
research Trichoscopy in Hair Shaft Disorders
Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
research Platelet-Rich Plasma—An 'Elixir' for Treatment of Alopecia: Personal Experience on 117 Patients with Review of Literature
Platelet-rich plasma (PRP) is a simple, cost-effective treatment that promotes hair growth and reduces hair loss, with high patient satisfaction.
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 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 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 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.