research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
Search
for
Sort by
Research
420-450 / 1000+ results 
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research A 5α-reductase inhibitor, finasteride, increases differentiation and proliferation of embryonal carcinoma cell-derived-neural cells
research Malignant appearance of trichilemmal cyst: a case report with review of the literature
A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research A Rare Case of Cutis Verticis Gyrata with Underlying Cerebriform Intradermal Nevus
A patient with a scalp condition and benign skin tumor experienced hair loss and did not improve with treatment, choosing not to have surgery despite a small cancer risk.
research Differential expression of phospho‐S6 in hair follicle tumors: Evidence of mammalian target of rapamycin pathway activation
The mTOR pathway may be involved in the development of hair follicle tumors, with higher activity in malignant tumors.
research Immunohistochemical dissection of cystic panfolliculoma focusing on the expression of multiple hair follicle lineage markers with an insight into the pathogenesis
Cystic panfolliculoma resembles hair follicle tumors due to specific cell interactions.
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 The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research Folliculotropic mycosis fungoides in a child: a rare case
Folliculotropic mycosis fungoides can occur in children and is diagnosed with specific tests, but often stays in early stages with treatment.
research DP18 A mimicker of melanoma on sun-exposed sites
Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
research Pathologic Quiz Case: A Cutaneous Nodule on the Left Temple
The nodule was a benign cutaneous lymphadenoma, not cancer, and was successfully removed.
research Branching of Spiral Ganglion Neurites Is Induced by Focal Application of Fibroblast Growth Factor‐1
FGF-1 causes spiral ganglion neurites to branch more.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Patients with Compound Heterozygous Mutations in Forkhead Box N1 have a Severe Immunodeficiency while Maintaining Normal Skin and Hair Development
Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
research A Rare Case of Facial Trichofolliculoma
A rare skin bump with tiny hairs was successfully removed from a man's face.
research RASopathic Skin Eruptions during Vemurafenib Therapy
Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Anticancer effects of metformin on neuroendocrine tumor cells in vitro
Metformin may help treat neuroendocrine tumors.
research Hair Follicle Miniaturization in a Woolly Hair Nevus
The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
research Human Dermal Fibroblasts Demonstrate Positive Immunostaining for Neuron- and Glia- Specific Proteins
Fibroblasts can be mistaken for neural cells, so functional validation is needed.
research Giant folliculosebaceous cystic hamartoma
A 15-year-old boy had a rare skin growth on his buttock.
research Polarized microscopy in genetic hair disorders: case series
Polarized microscopy helps identify hair irregularities in genetic disorders.
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research The patient journey in prurigo nodularis: what lies ahead
Prurigo nodularis is hard to diagnose and treat, but new biologics offer hope for better management.