research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
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660-690 / 1000+ results research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research 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 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 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
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 Papular atrichia
An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Erosive pustular dermatosis of the scalp - is it really a rare condition?
Erosive pustular dermatosis of the scalp may not be as rare as previously thought.
research Skin-specific expression of a truncated E1a oncoprotein binding to p105-Rb leads to abnormal hair follicle maturation without increased epidermal proliferation.
The oncoprotein causes abnormal hair growth without increasing skin cancer risk.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research GRANULOSA‐THECA CELL TUMOR IN A ONE‐YEAR‐OLD INFANT
A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
research Decision letter: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are vital for proper skin structure formation and function.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Inherited Hair Disorders
Genetic hair disorders can indicate other hidden health problems.
research Epithelial Mesenchymal Transition and Tissue Healing
EMT helps heal tissues but can cause scarring and other issues if prolonged.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research New Proposed Classification for Psychodermatosis Based on the Complex Interaction Between the Brain and Skin
Psychodermatosis is reclassified based on brain-skin interaction, dividing conditions into psychogenic and psychosomatic categories.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Hair Matrix Cyst
Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.
research Pemphigus vulgaris in only one of two monozygotic twins
Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research 708 Polycomb-mediated repression and Sonic hedgehog signaling regulate Merkel cell specification
Sonic hedgehog signaling is needed for the development of touch-receptor cells in the skin, and the loss of Polycomb repressive complex 2 can lead to more of these cells.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Ultrastructural Resemblance of Basal Cell Epithelioma to Primary Epithelial Germ
Basal cell epithelioma resembles fetal hair follicles, not adult or fetal skin.