research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
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research Dental Cell Type Atlas Reveals Stem and Differentiated Cell Types in Mouse and Human Teeth
The research identified various cell types in mouse and human teeth, which could help in developing dental regenerative treatments.
research Wnt Target Gene Ascl4 Is Dispensable for Skin Appendage Development
The gene Ascl4 is not necessary for the development of hair, teeth, or mammary glands.
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 Netherton's Syndrome: A Syndrome of Elevated IgE and Characteristic Skin and Hair Findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research TNF Superfamily in Skin Appendage Development
TNF family proteins are crucial for the development of skin features like hair, teeth, and mammary glands.
research Targeted Skin Overexpression of the Mineralocorticoid Receptor in Mice Causes Epidermal Atrophy, Premature Skin Barrier Formation, Eye Abnormalities, and Alopecia
Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.
research Polycystic Ovarian Syndrome: Prevalence and Its Correlates Among Adolescent Girls
About 15% of adolescent girls in a region of India have Polycystic Ovarian Syndrome, which is more common in those born by cesarean, with wisdom teeth, or with central obesity.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Hypotrichosis in a Child with Olmsted Syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Sparse Hair on the Scalp in a 5-Year-Old Girl
A 5-year-old girl has sparse, dry, and brittle hair but is otherwise healthy.
research Uncombable-Hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans
Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
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 Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Hair Follicle Miniaturization in a Woolly Hair Nevus
The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
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 Alopecia Areata in a Patient with WNT10A Heterozygous Ectodermal Dysplasia
A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
research To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Topical Cetirizine and Oral Vitamin D: A Valid Treatment for Hypotrichosis Caused by Ectodermal Dysplasia
Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
research A Rare Case of Cardiocutaneous Syndrome in a Young Child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Congenital Atrichia
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Phototherapy of Androgenetic Alopecia with Low Level Narrow Band 655-nm Red Light and 780-nm Infrared Light
Red and infrared light therapy improves hair growth in balding patients.