research A Paediatric Case of Severe Allergic Conjunctivits with Underlying Alopecia Areata
Early and proper treatment is crucial for children with allergic conjunctivitis to avoid complications.
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330-360 / 1000+ results research Netherton Syndrome
A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
A specific gene mutation causes complete hair loss without other health issues.
research Schimmelpenning Syndrome: A Neuro-Oculo-Cutaneous Disorder
Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A specific gene mutation causes sparse, brittle hair in a family.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Murine Cytomegalovirus is Not Associated With Alopecia Areata in C3H/HeJ Mice
Murine cytomegalovirus does not cause alopecia areata in these mice.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.
research Recurrent bacterial vaginosis and Netherton's syndrome
Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Selective Ablation of Ctip2/Bcl11b in Epidermal Keratinocytes Triggers Atopic Dermatitis-Like Skin Inflammatory Responses in Adult Mice
Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Pili torti in association with citrullinemia
A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
research Alopecia Areata Ophiasic with Ciliary Madarosis in A Pediatric Patient: Case Report
A 10-year-old girl with hair and eyelash loss showed significant regrowth after treatment.