research Trichothiodystrophy hair shafts display distinct ultrastructural features
Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
Search
for
Sort by
Research
780-810 / 1000+ results research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
research Strontium ranelate promotes chondrogenesis through inhibition of the Wnt/β-catenin pathway
Strontium ranelate helps cartilage growth by blocking a specific cell pathway.
research Failure of Fresh Plasma in Leiner Disease
Fresh plasma transfusions did not help treat Leiner disease in an infant.
research Localized trichorrhexis nodosa
Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Trichothiodystrophy without associated neuroectodermal features in two siblings
Two sisters had a rare hair condition without other usual symptoms.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Rippled‐pattern trichomatricoma
A unique hair tumor with a rippled pattern was identified, showing incomplete differentiation and unusual cell arrangements.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research LB1028 Spontaneous keloid eruption in a patient on dialysis
Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.
research Dermatopathia Pigmentosa Reticularis with Salzmann’s nodular degeneration of cornea: A rare association
An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
research Erythema Nodosum Associated with Kerion: A Case Series and Narrative Review of the Literature
Erythema nodosum linked to kerion can be treated effectively with antifungals and steroids to reduce scarring.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
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 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Trichothiodystrophy: an ultrastructural study of the hair follicle
Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Clinicopathologic and molecular characterization of a series of sporadic trichoblastic neoplasms
Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.