research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
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780-810 / 1000+ resultsresearch Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
Early diagnosis of skin conditions linked to rickets is crucial to prevent growth and bone issues.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research FilaggrinHigh melanomas exhibit active FGFR and allergic signatures with impaired GNA14 and Th1 signatures
FilaggrinHigh melanomas have active FGFR signaling and weak GNA14 and Th1 signatures.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ
A newborn with ichthyosis was successfully treated using specific neonatal care methods.
research Caracterización de signos cutáneos y sus anexos, en niños menores de 5 años con desnutrición severa
Severe malnutrition in young children causes various skin and nail issues, mainly pigmentation changes and extreme thinness.
research Genes of Congenital Dermatologic Disorders in Dogs—A Review
Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
research Miscellaneous Skin Diseases
Sebaceous adenitis affects mainly young to middle-aged dogs and can be managed with topical treatments and essential fatty acids.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Quoi de neuf en dermatologie pédiatrique ?
In 2017, pediatric dermatology advanced with new treatments and insights into various skin conditions in children.
research Finding models for skin diseases: successes and failures
The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research 371 Hair follicles are critical modulators of skin barrier function
Hair follicles are crucial for maintaining skin barrier function.
research Does dry skin indicate defective epidermal permeability barrier?
Dry skin does not mean the skin's protective barrier is broken; it's often due to a lack of natural skin moisturizers.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
Fetal skin biopsy can help diagnose protein-related disorders before birth.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
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 Ichthyosiform Rash and Fever in a Child
The child has a scaly rash and fever, but tests show no infection.
research Atrichia and Papular Lesions: Report of a Case
A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.