research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
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research Congenital Atrichia
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research Surgical Reduction of Alopecia
Scalp reduction can improve hair distribution in certain baldness cases but requires careful patient selection and understanding of facial structure.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
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 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 Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research A Rare Case of Severe Acrodermatitis Enteropathica During COVID-19 Lockdown
A boy with a rare skin condition improved quickly after starting zinc supplements.
research A 9-Month-Old Infant with Severe Scalp Dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Application of Platelet-Rich Gel in Repairing Scalp Defects Combined with Skull Exposure: A Case Series Analysis
Platelet-rich gel is an effective treatment for healing scalp wounds with exposed skull.
research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management
Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
research Co-Occurrence of Monilethrix and Type 1 Diabetes Mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research A Forgotten And Hidden Disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
research An Alternative Treatment for Weakness and Sparseness of Eyebrows: Mesotherapy, A Pilot Study
Mesotherapy might help make eyebrows thicker and darker for some people.
research Severe, Disfiguring, Pityriasis Rubra Pilaris in a Woman in the Dominican Republic
A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
research Assessment of the Nutritional Status of Internally Displaced School Children in the West and Littoral Regions of Cameroon
Many displaced schoolchildren in Cameroon are malnourished, with high rates of thinness, stunting, underweight, and deficiencies in iron and protein.
research Loose Anagen Hair Syndrome in Black-Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
research Autosomal Recessive Hypotrichosis Simplex With Woolly Hair: A Report of a New Family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
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 Abnormal Inner Root Sheath of the Hair Follicle in the Loose Anagen Hair Syndrome: An Ultrastructural Study
Loose anagen hair syndrome is caused by structural abnormalities in the hair follicle's inner root sheath.
research Further Clinical Evidence for the Effect of IGF-1 on Hair Growth and Alopecia
IGF-1 may affect hair growth and loss, but more research is needed to confirm effective and safe treatments.
research The Ovariectomized Mouse Simulates the Pathophysiology of Postmenopausal Female Pattern Hair Loss
Ovariectomized mice mimic postmenopausal hair loss, and estradiol helps maintain hair density.
research Hair Loss in Children
Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.