research NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy
An American Bully with a genetic skin condition improved significantly with specific topical treatments.
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90-120 / 900 resultsresearch Severe Skin Permeability Barrier Dysfunction in Knockout Mice Deficient in a Fatty Acid ω-Hydroxylase Crucial to Acylceramide Production
Lack of a key enzyme causes severe skin issues and death in mice.
research Presentations of Cutaneous Disease in Various Skin Pigmentations: Keratosis Pilaris
Recognizing keratosis pilaris in all skin tones helps diagnose related skin issues and reduce distress.
research [Cutaneous manifestations of malabsorption diseases (author's transl)].
Malabsorption can cause skin issues like pigmentation changes and hair loss, which improve with treatment.
research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
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 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 Disorders of Keratinization
Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
research Topical tacalcitol ointment can be a good therapeutic choice in erythromelanosis follicularis faciei et colli
Topical tacalcitol ointment can help improve symptoms of EFFC.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Non‐infective mucocutaneous presentations of human immunodeficiency virus infection
Most HIV patients develop skin symptoms that can indicate the stage of their disease.
research Homoeopathic management of keratosis pilaris with Arsenic Album: A case report
Homeopathic treatment with Arsenicum album improved keratosis pilaris symptoms in one case.
research The genetics of hair shaft disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Cutaneous manifestations of systemic lupus erythematosus in Pakistani children
Children with systemic lupus erythematosus have different skin symptoms than adults.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Hidradenitis Suppurativa
The document concludes that lifestyle changes and medical treatments can significantly reduce symptoms of Hidradenitis Suppurativa, a chronic skin condition.
research Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Cicatricial alopecia
Permanent hair loss from cicatricial alopecia is treated by reducing inflammation and managing symptoms, but regrowth in scarred areas is unlikely.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Lichen planopilaris in men: a retrospective clinicopathologic study of 19 patients
Lichen planopilaris in men often involves scalp redness and itching, with some also having hair loss, mucosal lichen planus, or thyroid disease, and treatment improved symptoms in nearly half of the cases.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Vulvovaginal involvement in Netherton syndrome: A case report
Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research Effect of Hataedock Treatment on Epidermal Structure Maintenance through Intervention in the Endocannabinoid System
Hataedock treatment improved skin health and reduced atopic dermatitis symptoms by enhancing the skin barrier and reducing inflammation.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.