research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
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450-480 / 1000+ results research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Clinical and Trichoscopic Graded Live Visual Scale for Androgenetic Alopecia
Trichoscopy is crucial for diagnosing and managing androgenetic alopecia, showing increased vellus hairs, empty follicles, and fibrosis with severity.
research Pili Annulati
The patient's hair has unique structural differences with alternating bright and dark bands.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research The expression of the gene asebia in the laboratory mouse: 3. Sebaceous glands
Mice with the ab gene have abnormal sebaceous gland development, affecting sebum production.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Aceclofenac-induced erythema annulare centrifugum
A woman got a skin rash from taking aceclofenac, which went away after she stopped the drug.
research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.
DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
research A functional study of a case of glucagonoma exhibiting typical glucagonoma syndrome
A pancreatic tumor caused high glucagon levels and symptoms, but treatment reduced glucagon and shrank liver tumors.
research 291 Gray-Scale Ultrasound to Assess Persistent Erectile Dysfunction in Young Men
Gray-scale ultrasound effectively detects erectile tissue fibrosis in young men with erectile dysfunction after using finasteride.
research Lrig1 Expression in Human Sebaceous Gland Tumors
Lrig1 could be a marker for advanced sebaceous carcinoma.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 원저 : 모반세포 모반과 악성흑색종의 감별진단에 있어서 Peanut Agglutinin의 의의
Peanut agglutinin staining helps differentiate malignant melanoma from nevocellular nevus.
research 41761 Alpha-gal Syndrome for the Dermatologist
Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Ciliary Madarosis Secondary to Intra-Arterial Chemotherapy for Retinoblastoma Treatment
Eyelash loss can temporarily occur from chemotherapy for retinoblastoma.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Female androgenic alopecia. The 3 alpha,17 beta-androstanediol glucuronide/sex hormone binding globulin ratio as a possible marker for female pattern baldness
Women with more 3α,17β-androstanediol glucuronide compared to sex hormone binding globulin are more likely to have female pattern baldness.
research BIOBRAN MGN-3
Biobran MGN-3 reduces chemotherapy side effects and improves quality of life for breast cancer patients.
research Trichoscopy of Androgenetic Alopecia: A Systematic Review
Trichoscopy shows hair diameter variability, vellus hairs, and the peripilar sign are key indicators for diagnosing Androgenetic Alopecia.
research The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series
EGFR inhibitors often cause dry, brittle hair and eyebrow/eyelash changes.
research Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
research Epidermal growth factor receptor inhibitor Geftinib-induced erosive pustular dermatosis of the scalp – A report with a brief review of the literature
Gefitinib can cause scalp skin issues and permanent hair loss.
research 332 Generation of a gene expression signature for sebaceous glands by transcriptome comparison of psoriasis and sebaceous hyperplasia
Sebaceous gland atrophy and abnormal function may contribute to hair loss in psoriasis.
research Evaluation of hair structural abnormalities in children with different neurological diseases
Hair examination helps diagnose rare neurological diseases in children.
research Testing for GHB in Hair by GC/MS/MS after a Single Exposure. Application to Document Sexual Assault
Hair testing can detect a single GHB exposure, useful for documenting sexual assault.
research Acquired smooth muscle hamartoma with sebaceous component
The patient has a rare skin condition that shows features of two known disorders.