research Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
Trichoscopy is useful for diagnosing Netherton syndrome in children with skin issues.
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research 1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
research Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling
EdnrB signaling helps melanocyte stem cells regenerate and could be targeted to treat pigmentation issues.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma
Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
research Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
Cutaneous Lymphadenoma is a unique skin tumor with specific protein markers and common gene mutations that may cause continuous cell growth.
research Evidence of proliferative activity in human Merkel cells: implications in the histogenesis of Merkel cell carcinoma
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
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 Dermoscopy to the rescue
Dermoscopy helps accurately diagnose and treat benign skin cysts.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Merkel Cells in Hyperplastic and Neoplastic Lesions of the Skin
Merkel cell increase is specific to certain skin diseases, not general skin growth.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research Dermpath & Clinic: Telangiectasia macularis eruptiva perstans
Brodalumab is more effective than ustekinumab in treating psoriasis.
research CD34 and BerEP4 Are Helpful to Distinguish Basaloid Tricholemmoma From Basal Cell Carcinoma
BerEP4 and CD34 staining can help tell apart tricholemmoma from basal cell carcinoma.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research 원저 : 모반세포 모반과 악성흑색종의 감별진단에 있어서 Peanut Agglutinin의 의의
Peanut agglutinin staining helps differentiate malignant melanoma from nevocellular nevus.
research Interparietal nodule in a 49‐year‐old woman
A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Epithelial skirt and bulge of human facial vellus hair follicles and and associated Merkel cell-nerve complex
Merkel cells are abundant in facial vellus hair follicles, especially during the anagen phase.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.