research Coexistence of Woolly Hair and Monilethrix: A Cases Study
Two sisters have rare hair disorders causing short, fragile, kinky hair.
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600-630 / 1000+ results research A second case of effective eradication of alopecia areata following treatment with the dopaminergic drug dextroamphetamine
Dextroamphetamine may help treat alopecia areata.
research Inhibition of CISD1 attenuates cisplatin-induced hearing loss in mice via the PI3K and MAPK pathways
Blocking CISD1 reduces hearing loss from cisplatin in mice.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Hair shaft disorders in children – An update
Diagnosing and managing children's hair shaft disorders is challenging but essential.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Acquired Structural Defects of the Hair
External factors like certain shampoos, bacterial infections, and parasites might cause hair defects similar to genetic conditions.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research Alopecia areata and myasthenia gravis presenting as paraneoplastic phenomena of breast cancer
Alopecia areata and myasthenia gravis can occur as rare symptoms of breast cancer.
research Atrichia with papular lesions
Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research Local Artemis dysfunction may be one molecular mechanism for androgenetic alopecia via telomere shortening
Artemis dysfunction might cause hair loss through telomere shortening.
research Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
research Gastroparesis - a novel cause of persistent thyroid stimulating hormone elevation in hypothyroidism.
Gastroparesis can cause persistent TSH elevation in hypothyroidism despite treatment.
research Hair and Scalp Disorders
Alopecia areata causes patchy hair loss, and certain hair features can suggest its presence.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Is seborrhea a sign of autonomic impairment in Parkinson's disease?
Seborrhea in Parkinson's disease may be linked to hormones, not autonomic impairment.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research Pregnenolone for the treatment of L-DOPA-induced dyskinesia in Parkinson's disease
Pregnenolone might help manage movement issues caused by Parkinson's disease treatment without reducing the medicine's effectiveness.
research Dermatological aspects of the S2k guidelines on Down syndrome in childhood and adolescence
Most skin conditions in Down syndrome are benign and involve dry or thickened skin.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Pathologies of the skin and its appendages in endocrine diseases
Endocrine disorders can cause various skin and hair issues.
research Hair aging and hair disorders in elderly patients
Older people often experience changes and problems with their hair.
research The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis
A mutation in the KRT75 gene causes frizzle feathers in chickens.
research Loose anagen hair syndrome
Loose Anagen Syndrome is a hair condition where hairs can be easily pulled out, mainly affecting young girls, and may improve on its own or with treatment.
research Hair cell loss – cause or consequence of hearing loss?
Hair cell loss usually happens after hearing loss starts.