research Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man
An 18-year-old man was diagnosed with a rare genetic disorder causing hair loss, severe light sensitivity, and skin issues.
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research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Effects of androgen overproduction on skin target organs in children with congenital adrenal hyperplasia
research Tissue expansion for correction of alopecia in a child with hypohidrotic ectodermal dysplasia
Tissue expansion successfully treated alopecia in a child with hypohidrotic ectodermal dysplasia.
research Optical Coherence Tomography Angiography Findings in Polycystic Ovary Syndrome
Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
research Vogt-Koyanagi-Harada Disease: A Narrative Review
Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
research The heme-responsive PrrH sRNA regulates Pseudomonas aeruginosa pyochelin gene expression
PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
research Table 1_Evaluation of the efficacy and treatment-emergent adverse events of deuruxolitinib for moderate to severe alopecia areata: a dose-ranging meta-analysis of 1,372 randomized patients.docx
Deuruxolitinib improves hair regrowth in alopecia areata but needs more safety research.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Stigmata of Liver Disease in a Cirrhotic Patient
The patient showed signs of liver disease due to alcohol use but didn't need treatment for Dupuytren’s contracture.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Transient Bullous Dermolysis of the Newborn
The newborn's skin condition improved over time, leaving only lighter skin patches.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Progressive Hair Loss and Myocardial Degeneration in Rough Coat Mice: Reduced Lysyl Oxidase-Like (LOXL) in the Skin and Heart
The gene causing hair loss and heart issues in rough coat mice is still unknown.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Optimized Methodology to Produce Platelet-Rich Plasma and Perform Platelet Aggregation in Patients With Coronary Artery Disease
A new method improves platelet testing for heart disease patients.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Eyebrow reconstruction in dormant keratosis pilaris atrophicans
Eyebrow reconstruction using hair follicle grafts was successful in a man with a benign hereditary disorder affecting his eyebrows.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Lentiginosis within plaques of linear atrophoderma of Moulin: a twin-spotting phenomenon?
The document suggests a rare skin condition might be caused by a genetic phenomenon.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Reversible alopecia in Vogt-Koyanagi-Harada disease and sympathetic ophthalmia
Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Simultaneous Onset of Alopecia Areata and Idiopathic Thrombocytopenic Purpura: A Potential Association?
A young girl had both alopecia areata and immune thrombocytopenic purpura at the same time, suggesting a possible link between the two.