research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
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570-600 / 1000+ results 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.
research Diagnostic Challenges in Ovarian Hyperthecosis: Clinical Presentation with Subdiagnostic Testosterone Levels
Ovarian hyperthecosis can cause symptoms even with normal testosterone levels, and surgery can improve these symptoms.
research Differential expression of type I IRS keratin genes in three breeds of sheep
Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
research Ulerythema Ophryogenes
Treatment with vitamin A did not improve the child's skin condition.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Ketoconazole use in the treatment of ovarian hyperandrogenism
Ketoconazole can treat ovarian hyperandrogenism but should be used cautiously with monitoring and birth control.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Ischemic onycholysis of the hands
A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
research Necrolytic Migratory Erythema in a Cat with Glucagonoma Syndrome
A cat with a rare pancreatic tumor and diabetes died despite treatment, showing similar symptoms to a human condition.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research Testosterone- and Cortisol-Secreting Adrenocortical Oncocytoma: An Unusual Cause of Hirsutism
A woman's excessive hair growth was caused by a rare benign tumor in her adrenal gland, which was successfully removed.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Keratin expression in the normal nail unit: markers of regional differentiation
Different parts of the nail express different keratins, showing unique patterns of differentiation.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Unusual Eyelid Dermal Keratinous Cysts of Pilosebaceous Origin
Two new types of eyelid cysts were identified, each with different treatment challenges.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Pre-keratin isolated from epidermal microsomes
research EDA Fibronectin Microarchitecture and YAP Translocation During Wound Closure
Correcting EDA fibronectin organization and YAP translocation can improve wound healing in fibrotic conditions.
research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research Case of intractable ophiasis type of alopecia areata presumably improved by fexofenadine
Fexofenadine may help treat a difficult type of hair loss.
research Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
research A fast-growing skin lesion in a dialysis patient
A benign skin tumor grew quickly in a dialysis patient and was surgically removed.
research Tata Laksana Onikomikosis Candida
Candida nail infections need lab tests for accurate diagnosis and treatment.