Ichthyosis bullosa of Siemens

Did You Know?

• About half of cases arise from a spontaneous mutation with no affected parent.
• In 1994, ichthyosis exfoliativa was proved to be the same disease as ichthyosis bullosa of Siemens.

Symptoms and signs

At birth, the skin looks red and sunburned, often with blisters that can cover large areas or stay in one spot. Within weeks, the redness fades and dry, flaky patches appear on the arms, legs, and near the belly button, while other skin stays normal. The skin stays fragile and blisters easily from minor bumps or sweat. After a few months, thick, dark grey or brown ridged skin develops on the ankles, knees, and elbows; the palms and soles are usually clear. A mild, sweet smell may occur. A unique sign is the Mauserung phenomenon, where small patches of normal-looking skin appear inside the thickened areas. As the person gets older, flaking and blistering lessen, but the thick skin may become more severe yet more confined, typically only in the creases of major joints.

Treatments

Treatments aim to improve skin appearance and patient comfort by exfoliating and increasing moisture. Emollients such as moisturisers or petroleum jelly are used often several times a day. Long baths, possibly with salt, several times a week soften the skin and aid exfoliation. Exfoliating creams containing keratolytics like urea, salicylic acid, or lactic acid may be helpful. Antiseptic washes can kill bacteria and prevent odour. In very severe cases, oral retinoids may control symptoms but have serious side effects, including increased blistering.