research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
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270-300 / 1000+ resultsresearch 865 Single-cell protein activity inference analysis of full-thickness skin uncovers novel pathways and a rare Arg1+ macrophage population in AA
Arg1+ macrophages may play a role in Alopecia Areata, offering new treatment targets.
research PCOS and Hyperprolactinemia: Conflicting Conditions or Comorbidities?
Hyperprolactinemia should be treated before confirming a PCOS diagnosis.
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 novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Action of Nucleophilic Reagents on Hair Keratin
Nucleophilic reagents break down hair keratin, forming more lanthionine and lysinoalanine than in wool.
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 Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research Congenital Adrenal Hyperplasia
Early diagnosis and treatment of congenital adrenal hyperplasia are crucial to manage symptoms and prevent complications.
research Clinical case of manifestation of toxic keratitis with vitamin A intoxication
Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
research Clinical application of hair protein glycation in the assessment of blood glucose control and diabetic neuropathy.
Hair glycation can indicate long-term blood sugar levels and diabetic nerve issues.
research Papilledema and Hypervitaminosis A
Excessive vitamin A can cause symptoms that mimic serious brain conditions.
research GREASY SCALING PITYRIASIS AMIANTACEA AND ALOPECIA: A SYNDROME IN SEARCH OF A CAUSE
The cause of the syndrome with scalp scaling and hair loss is unknown.
research Evaluation of Serum Ischemia Modified Albumin Level in Male Patients with Androgenetic Alopecia
Higher IMA levels in male AGA patients, especially if obese, may link AGA to metabolic and heart issues.
research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D
The child's body didn't respond well to vitamin D, causing hair loss and rickets.
research Adenohypophysitis Associated with Sebaceous Gland Atrophy in a Dog
A dog had a rare skin condition linked to gland and pituitary issues.
research Mania in Hyperandrogenism, Insulin Resistance, and Nigricans Acanthosis Syndrome
Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research [Hypothyroid myopathy in a young adult].
Levothyroxine treatment fully cured the young man's hypothyroid symptoms.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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 Deimination in epidermal barrier and hair formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
research A Rare Case of Orthokeratotic Hyperkeratosis in a Kid Induced by Malassezial Dermatitis
A young goat with skin issues improved with medication and supplements.
research Generalized Hair-Follicle Hamartoma
Skin biopsy is crucial for diagnosing unknown baldness causes.