research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Congenital alopecia areata: a systematic review
Congenital alopecia areata may be genetic, and topical corticosteroids often help regrow hair.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Case number 19th of perforating necrobiosislipoidica worldwide
The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.
research Update on detection, morphology and fragility in pili annulati in three kindreds
Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Acrodermatitis enteropathica – a diagnostic challenge: case report of late-onset, genetically proven disease with normal zinc serum levels
Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.
research 66-Year-Old Woman With Painless Vesicular Lesions
A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
research Critères dermoscopiques d’un onychomatricome
Onychomatricome is a benign nail tumor with specific dermoscopic features that help distinguish it from cancer.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Coexpression of Keratins Characteristic of Skin and Hair Differentiation in Nail Cells
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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 FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
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 Follicular porokeratosis: four new cases
Four new cases confirmed the unique features of follicular porokeratosis.
research Tricorrexis nodosa localizada
Avoiding damage and using specific shampoo and supplements improved the hair condition.
research Plica polonica following use of homeopathic antidandruff shampoo containing canthalin
A homeopathic antidandruff shampoo caused severe hair matting in a girl.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Facial Follicular Spicules: A Rare Cutaneous Presentation of Trichodysplasia Spinulosa
Trichodysplasia spinulosa can occur after a heart transplant due to immunosuppressive drugs.
research Congenital Combined Melanocytic Nevus of the Scalp With Associated Alopecia Areata
A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: a Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Lichen Planopilaris with Pili Torti and Ectodermal Dysplasia: a hair curling case report.
Early detection and treatment are crucial to prevent irreversible hair loss in Lichen Planopilaris.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.