research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
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510-540 / 1000+ results research Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
A rare gene mutation causes skin fragility and itching without affecting hair or nails.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Dermatomyositis Disease in Dogs
Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Comparative transcriptomic analysis of dermal wound healing reveals de novo skeletal muscle regeneration in Acomys cahirinus
The African spiny mouse can fully regenerate its muscle without scarring, unlike the common house mouse.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Butyrophilin-like 2 (BTNL2) to the Rescue: controlling autoaggressive dermal gamma delta (GD) T lymphocytes in human hair follicles (HFs) 3747
BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
research A Case of pretibial myxedema with hyperthyroidism
The man had pretibial myxedema and hyperthyroidism, causing skin changes and thyroid issues.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research 062 A case of autoimmune facial swelling, weakness and sensorineuropathy with lower limb myositis
The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
research Melanocortin receptor type 2 (MC2R, ACTH receptor) expression in patients with alopecia areata
Lower MC2R expression may contribute to alopecia areata.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.