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This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.

Mutations in the hHb6 gene cause the hair disorder monilethrix.

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.

This report describes an unusual case of proliferating trichilemmal cyst with trichoepitheliomatous change in a young woman, differing from its typical presentation in elderly women.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.

This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.

This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.

This study found that phospho-S6 is strongly expressed in malignant hair follicle tumors but only patchily in a minority of benign tumors, indicating a potential marker for distinguishing between the two.

This study demonstrated that switching aE-catenin to aT-catenin in murine skin substantially rescued hyperproliferative and pre-cancerous conditions, but led to partial baldness, indicating potential functional discrepancies.

Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.

This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.

This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.

This study found that increased PHGDH expression in mice led to earlier melanin and melanocyte presence in hair follicles but did not induce cancer.

Recognizing minor skin lesions can help identify serious cancer syndromes.

Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.

This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.

This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.

This study found that inhibiting mTORC2 in glioblastoma cells reduced DNA repair and increased apoptosis, highlighting its potential role in cancer cell survival and DNA damage response.

This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.

This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.

This study found that mutations in the PADI3 gene, which is important for hair shaft formation, may contribute to central centrifugal cicatricial alopecia among patients.

This study found that Pmab treatment may alter hair follicle growth cycles, leading to trichomegaly and hypertrichosis, but these effects do not correlate with other skin toxicities.

This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.

In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.