research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
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research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.
research Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth
Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
research Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research Dissecting the Molecular Mechanisms Involved in Keloid Pathogenesis and Response to Therapy
Low-dose radiation and certain drugs can inhibit keloid growth, revealing potential treatment targets.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
research Sex- or Gender-specific Differences in the Clinical Presentation, Outcome, and Treatment of SARS-CoV-2
Men face more severe COVID-19 outcomes, while women are more likely to have long-term symptoms.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Cutaneous manifestations associated with substance use disorders
Skin issues can signal substance use, helping early detection and treatment.
research Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae
research Low serum testosterone is associated with an increased risk of first-time renal calculi in men without testosterone replacement therapy
Low testosterone increases kidney stone risk in men not on testosterone therapy.
research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter
The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
research Feline lymphangiosarcoma – definitive identification using a lymphatic vascular marker
Lymphangiosarcoma was confirmed in cats with specific skin symptoms using a lymphatic marker.
research Zinc‐responsive dermatosis in goats suggestive of hereditary malabsorption: two field cases
Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
research Cutaneous paraneoplastic syndromes in dogs and cats: a review of the literature
Skin disorders in pets can help detect hidden cancers early.
research Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy
Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
research Paraneoplastic alopecia associated with internal malignancies in the cat
Some cats with sudden hair loss and tiredness might have cancer-related alopecia.
research Cephalalgic Alopecia Areata
Botulinum A toxin injections reduced pain and promoted hair regrowth in a woman with a rare form of alopecia areata.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Postsclerotherapy Hyperpigmentation: A Histologic Evaluation
Most patients' skin darkening after sclerotherapy fades on its own within 6-24 months.
research Alopecia areata: Clinical presentation, diagnosis, and unusual cases
Alopecia areata is a type of hair loss that can lead to complete baldness, often associated with other autoimmune conditions, and half of the cases may see hair return within a year.
research The clinical evaluation of hirsutism
Hirsutism is excessive hair growth in women often caused by polycystic ovarian syndrome, and identifying the cause is important for managing associated health risks.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research An overview on congenital alopecia in domestic animals
Congenital alopecia in domestic animals is rare and involves abnormal hair follicle development, needing better understanding and classification.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.