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research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
research Adenolipoma—Eccrine and Apocrine Variants With Evidence for a Hamartomatous Process
Adenolipomas may develop from gland entrapment by fat tissue, showing complex and varied forms.
research Phylloid terminal hair nevus: A unique clinical entity
A baby had a unique skin condition with a pale patch and surrounding dark hairs, not linked to other health issues.
research Motoneuron-Specific PTEN Deletion in Mice Induces Neuronal Hypertrophy and Also Regeneration after Facial Nerve Injury
Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
research 1469 Tissue mechanics partake in spatiotemporal patterning of wound-induced hair neogenesis in African spiny mouse
African spiny mice can regenerate skin and hair after wounds due to specific tissue mechanics.
research Queratose folicular espinulosa decalvante: relato de caso
A rare genetic disease caused severe, worsening hair loss from early childhood with poor treatment results.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Multiple Pilomatrixoma in Turner Syndrome
Multiple pilomatrixoma may indicate Turner syndrome.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Trichostasis Spinulosa Confirmed by Standard Skin Surface Biopsy
Trichostasis spinulosa can be diagnosed with a simple skin biopsy and treated with specific gels, but lesions may return after stopping treatment.
research Plica Neuropathica in 2 Hispanic Patients
Two Hispanic women developed Plica neuropathica, a condition causing tangled hair, possibly due to hair damage and various risk factors.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature
An 18-year-old girl was diagnosed with a rare hereditary hair loss condition, despite no family history.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research Proliferative trichilemmal cyst of the plantar surface: An unusual localization: A case report
A rare foot cyst was successfully diagnosed and removed without cancer.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
High ODC and low K1 and K10 may indicate early skin tumors in mice.
research A case of congenital pili multigemini
A rare, harmless hair condition was found in an infant's eyebrow, needing no treatment.
research 644 Tumor cell adhesion as a risk factor for SLN metastasis and predictor of disease recurrence in primary cutaneous melanoma
Tumor cell adhesion is linked to higher risk of SLN metastasis and melanoma recurrence, and a model including these factors predicts these outcomes better than one with just clinical data.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Early Onset Werner Syndrome
Consider Werner syndrome in young patients with early aging signs and metabolic issues.
research Verrucous hemangioma leg: A challenging birthmark
A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research Gastrointestinal polyposis with protein-losing enteropathy, abnormal skin pigmentation and loss of hair and nails (Cronkhite-Canada syndrome)
Cronkhite-Canada Syndrome often leads to death within 6-18 months.
research Overexpression of Sonic Hedgehog suppresses embryonic hair follicle morphogenesis
Too much Sonic Hedgehog protein stops hair growth in embryos.