research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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450-480 / 1000+ results research Simultaneous occurrence of neuromyotonia and morphoea: a cause-effect relationship?
Neuromyotonia and morphoea can occur together in the same body areas.
research Epidermal Dysplasia and Abnormal Hair Follicles in Transgenic Mice Overexpressing Homeobox Gene MSX-2
Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
research Molecular mechanisms of ectodermal dysplasia syndromes
Ectodermal dysplasia syndromes are caused by disruptions in key signaling pathways affecting tooth and hair development.
research Childhood‐onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report
A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.
research The Roles of Smad2 and Smad3 in Mouse Skin Development
Smad2 and Smad3 are essential for normal skin development, and their absence causes severe skin issues and cancer.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Dermatologic Disorders
Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.
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 WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes
WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
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 Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Salivary Gland Choristoma (Heterotopic Salivary Gland Tissue) on the Anterior Chest Wall of a Newborn
A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Multiple pigmentierte Basaliome im Capillitium bei Myotonia dystrophia Curschmann-Steinert
A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research DP18 A mimicker of melanoma on sun-exposed sites
Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 with Non-ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Multiple desmoplastic trichoepitheliomas with ossification and cholesterol deposition
A man had rare skin tumors with bone formation and cholesterol deposits.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes
Excessive body hair can signal complex health issues.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Expression patterns of hair and epithelial keratins and transcription factors HOXC13, LEF1, and β‐catenin in a malignant pilomatricoma: a histological and immunohistochemical study
The malignant pilomatricoma showed strong epithelial keratin expression, suggesting it may not calcify.
research Characterization of a mouse Scube3 reporter line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
research OPIS PRZYPADKU RZADKIEGO SAMOTNEGO WŁÓKNISTEGO GUZA KOŚCI KRZYŻOWEJ
Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.
research An unusual presentation of pilomatrixoma
A painless cheek lump was misdiagnosed but later identified as a rare benign skin lesion called pilomatrixoma.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.