A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.

The article presents a case of a novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of siemens (IBS). IBS is a rare autosomal dominant skin disorder characterized by blister formation in the upper suprabasal layers of the epidermis. Information about the clinical features and treatment of the disease is also discussed.