research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
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research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Bilaterally Symmetrical Alopecia With Reticulated Hyperpigmentation
A Doberman Pinscher had a rare form of autoimmune disease causing hair loss and other severe symptoms.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research Bilateral circumscribed haemangioma of the choroid not associated with systemic vascular syndrome
Intralesional cidofovir might be a good alternative treatment.
research A Case of Steatocystoma Multiplex in a Psoriatic Patient during Treatment with Anti-IL-12/23
Ustekinumab treatment may reveal a genetic tendency for steatocystoma multiplex in psoriasis patients.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research Vogt-Koyanagi-Harada Syndrome from Dermatological Perspective: A Case Report
Early diagnosis and aggressive treatment are essential for managing Vogt-Koyanagi-Harada syndrome effectively.
research Sustained Scalp, Eyebrow, and Eyelash Hair Regrowth with Ritlecitinib Through Week 48 in Patients with Alopecia Areata: Post-Hoc Analysis of the ALLEGRO Phase 2b/3 Study
Ritlecitinib effectively maintains hair regrowth in alopecia areata patients.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Rapidly Progressive Alopecia Universalis after Varicella-Zoster Virus Infection: The role of Immune Dysregulation and Tofacitinib treatment
Tofacitinib effectively regrows hair in alopecia universalis triggered by a virus.
research Dermoscopy: A rapid bedside tool to assess monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research Unusual Presentation of Childhood Leukemia With Vaginal Bleeding: A Case Report
Leukemia should be considered in teens with unexplained bleeding.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research The clinical features and histopathologic patterns of folliculotropic mycosis fungoides in a series of 38 cases
Recognizing diverse presentations of folliculotropic mycosis fungoides is crucial to avoid diagnostic errors.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Recurrent inverse necrotizing infundibular crystalline folliculitis
Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
research Isolated episcleral plasmacytoma mimicking episcleritis in a patient with benign monoclonal gammopathy
An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Kerion Celsi caused by Microsporum gypseum in a Chinese child, a case report
A Chinese boy's scalp infection from a guinea pig was cured with medication.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A Woman With Nodules and Depressed Scars
The woman has a skin condition involving nodules, scars, and hair loss.
research Cutaneous Lesions in the Rat Following Administration of an Irreversible Inhibitor of erbB Receptors, Including the Epidermal Growth Factor Receptor
CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.