Ichthyosis bullosa of Siemens disease as IBS. Ichthyosis bullosa of Siemens Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people. IBS has symptoms very similar to epidermolytic hyperkeratosis (EHK) but is generally milder than EHK. IBS affects only the upper layers of the epidermis whilst EHK affects the suprabasal layer which is deeper in the skin. At birth the baby's skin has a red
Harlequin-type ichthyosis autosomal recessive manner. Diagnosis is often based on appearance at birth and confirmed by genetic testing. Before birth amniocentesis or ultrasound may support the diagnosis. There is no cure. Early in life constant supportive care is typically required. Treatments may include moisturizing cream, antibiotics, etretinate, or retinoids. It affects about 1 per 300,000 births. Both sexes are affected equally commonly. Long term problems are common. Death in the first month is relatively common. The condition was first documented in 1750. Newborns with harlequin-type ichthyosis present with thick, fissured armor-plate hyperkeratosis. Sufferers feature severe cranial and facial deformities. The ears may