Search

In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems. Most prominent are the dermatological abnormalities, developing in 4 stages: the vesicular stage, the verrucous stage, the hyperpigmentation phase, and the atrophic phase. In addition to the cutaneous manifestations, many patients have anomalies of nails, hair and teeth. Serious related abnormalities of the eyes (intraocular vasculopathy) and central nervous system (convulsions, mental retardation) may occur. In 1989 the locus for the incontinentia pigmenti mutation was shown to be present on Xq28. Recently it was shown that the causative mutation is located on the NEMO ('NF-kappa B essential modulator') gene. A NEMO knock-out mouse model shows a dermatopathy of a transient nature, resembling the skin lesions in patients with incontinentia pigmenti.

Following a febrile illness with nasal discharge and vomiting a 1.5-year-old girl developed monomorphous erythematous papular lesions on the face, buttocks and extremities. A diagnosis of Gianotti-Crosti syndrome on the basis of an Epstein-Barr virus infection was made. The patient recovered in eight weeks without treatment. In the Netherlands the originally described relationship with a hepatitis B infection is very improbable in patients with the Gianotti-Crosti syndrome. Other viral agents like Epstein-Barr virus are much more likely.