research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
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450-480 / 1000+ resultsresearch More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
research Animals in Dermatology
Using animal names for skin conditions helps with learning and memory.
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 Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Morphologische und biochemische untersuchungen am Haar bei gestörtem Aminosäurestoffwechsel
Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
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 Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research The developmental basis of fingerprint pattern formation and variation
Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
research Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Hypotrichosis in a child with olmsted syndrome
A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
research Treatment of pediatric alopecia areata: A systematic review
Topical corticosteroids are the best initial treatment for children's alopecia areata.
research Voice changes in reproductive disorders, thyroid disorders and diabetes: a review
People with reproductive, thyroid disorders, and type 2 diabetes can experience voice changes, but more research is needed to understand this better.
research Clinicopathologic Case 2: Multiple Intraoral White Lesions in a 55-year-old Female
The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
research Proliferative and Non-Proliferative Lesions of the Rat and Mouse Integument
The project created a standardized system for classifying skin lesions in lab rats and mice.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Tissue engineering of skin and regenerative medicine for wound care
Current skin substitutes help heal severe burns but don't fully replicate natural skin features.
research Plastic surgery : indications, operations, and outcomes
The document covers all aspects of plastic and reconstructive surgery, from basic techniques to specific procedures for various body parts.
research The role of WNT10B in physiology and disease: A 10-year update
WNT10B is important for body functions and linked to diseases like osteoporosis, obesity, and cancer.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
Marine mammals lost many α-keratin genes, aiding their adaptation to aquatic life by becoming hairless.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.