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This article discusses the pulmonary manifestations of Birt-Hogg-Dubé syndrome, noting diagnostic challenges in differentiating it from other lung conditions, and underlines the need for further research on folliculin's role in cyst formation.

This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.

CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.

The study reported that vismodegib showed significant effectiveness in treating basal cell carcinoma, particularly in patients with Gorlin-Goltz syndrome or locally advanced BCC, but also highlighted substantial side effects, requiring careful management to prevent treatment resistance and maintain remission.

This study found that gene expression changes in hair bulb cells are linked to graying hair, affecting processes like melanogenesis and cell-cell interaction.

This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.

This study found that monoclonal antibodies can identify specific immunological characteristics of hair fibrous proteins, with some antibodies reacting only with hair proteins and others showing broader activity with skin and epithelial cells.

This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.

In this case study, researchers observed a 5.8-year-old male with peripheral precocious puberty due to a germ cell tumor, marked by elevated human chorionic gonadotropin levels. Treatment normalized hormone levels and arrested the puberty progression, highlighting melatonin's potential role in transitions to central precocious puberty.

Mutations in the DSG4 gene cause specific hair and scalp issues.