A case of classical Vohwinkel syndrome caused by the mutation p.N54H in the GJB2 gene / 中华皮肤科杂志

Objective:To detect gene mutations in 1 patient with Vohwinkel syndrome who presented with palmoplantar keratoderma, pseudo-ainhum and deafness.Methods:Clinical data were collected from the proband, and a genetic test was performed to identify mutation sites.Results:Clinical manifestations of the proband were consistent with classical Vohwinkel syndrome. The genetic test revealed a heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene, which was not detected in her parents or healthy controls.Conclusion:The heterozygous mutation c.160A>C (p.N54H) in the GJB2 gene was first identified in a patient with classical Vohwinkel syndrome, and there were overlaps in mutation sites between classical Vohwinkel syndrome and palmoplantar keratoderma with deafness.

Cutaneous immune-related adverse reactions induced by immune checkpoint inhibitors / 中华皮肤科杂志

As a new type of anti-cancer drugs, immune checkpoint inhibitors have been widely used for the treatment of various tumors in recent years, but they have also caused a variety of immune-related adverse reactions, among which cutaneous adverse reactions are the most common. The onset of cutaneous adverse reactions is usually early, and most are mild, but some can also be life-threatening. This review summarizes recent advances in cutaneous immune-related adverse reactions induced by immune checkpoint inhibitors.

Treatment of impetigo herpetiformis / 中华皮肤科杂志

Impetigo herpetiformis, also known as generalized pustular psoriasis of pregnancy, is generally considered as a rare subtype of pustular psoriasis that occurs during pregnancy. Current treatment includes systemic and topical glucocorticoids, cyclosporine, biologic agents, antibiotics, phototherapy, granulocyte and monocyte apheresis, etc. This review summarizes treatment strategies for impetigo herpetiformis.