research PATHOGENESIS OF GENETIC HUMAN HAIR DISORDERS
All major hair defects involve cuticle abnormalities.
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810-840 / 1000+ resultsresearch Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
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 Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family with the p.P25L mutation in KRT 5
The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research EDA and EDAR expression at different stages of hair follicle development in cashmere goats and effects on expression of related genes
EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
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 Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Inherited Hair Disorders
Genetic hair disorders can indicate other hidden health problems.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Familial congenital generalized hypertrichosis
A girl inherited excessive body hair from her mother and grandmother.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
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 Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Ichthyosis Follicularis With Alopecia and Photophobia
Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research A University Center for the Performing Arts
Familial dyskeratotic comedones are a rare, inherited skin condition that is hard to treat but may improve slightly with topical retinoids and urea cream.
research Dysfunction of keratinocyte adhesion
Keratinocyte adhesion problems can cause skin and hair disorders.
research Early inductive events in ectodermal appendage morphogenesis
Early development of hair, teeth, and glands involves specific signaling pathways and cellular interactions.
research Hair dysplasias
Hair dysplasias involve various hair disorders causing fragility, breakage, and poor hair adhesion.