research Msx2 Prevents Stratified Squamous Epithelium Formation in the Enamel Organ
Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
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research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research A newborn presenting with congenital blistering
The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Increased expression of Ectodysplasin A2 Receptor EDA2R is the most remarkable and ubiquitous aging-related transcriptional hallmark
The most common sign of aging at the gene level is more Ectodysplasin A2 Receptor (EDA2R) being made.
research A Case of Acrodermatitis Enteropathica
Acrodermatitis Enteropathica is a rare skin condition treated effectively with zinc supplements, and early diagnosis is key.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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 LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Ectopic sebaceous gland: a developmental anomaly
A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.