research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
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30-60 / 1000+ results research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Clinical Course of the First Japanese Family with Marie Unna Hereditary Hypotrichosis: A Follow-Up Report
The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
research Central States Dermatological Society: A Case of Lipoid Proteinosis in a 5-Year-Old Girl
A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
research Hypotrichosis Congenita (KRT71 Mutation) in Hereford Cattle in Uruguay
A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
research Differential Diagnosis of Hair Loss in Children
The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Generalized Hypertrichosis After 5% Minoxidil Solution in Trichorhinophalangeal Syndrome: A Case Report and Review of the Literature
5% minoxidil can significantly increase hair growth in TRPS patients.
research Do You Know This Syndrome? Loose Anagen Hair Syndrome in a Two-Year-Old Male Patient
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
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 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.
research Congenital Atrichia
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research DNA Dioxygenases Tet2/3 Regulate Gene Promoter Accessibility and Chromatin Topology in Lineage-Specific Loci to Control Epithelial Differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research Pathological Studies of Cross-Related Congenital Hypotrichosis in Cattle
Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
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 Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
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.