Incontinentia pigmenti Bloch-Sulzberger. Fallbericht

Background. Bloch-Sulzberger syndrome (incontinentia pigmenti) is an x-linked dominant disease, affecting the skin, the central nervous system, the eyes, the teeth and the skeleton with variable expression. Diagnosis is suspected in the presence of typical sequence of skin symptom change during the first weeks of life. Case report. Here, we report on a now two year old girl who first presented with epileptic seizures, severe encephalopathy with distinct necrosis of cerebral medulla and cortex at the age of two days. Thereafter the child developed mental retardation, spastic tetraparesis and microcephaly. There were no distinct skin eruptions. A typical generalised dermatosis appearing with papular and pustular lesions resulting into reticular hyper-pigmentation became evident at the age of two years when she suffered from septic lymphadenitis. Diagnosis of incontinentia pigmenti was considered and confirmed by the histologic examination of skin biopsy. Conclusion. This case demonstrates, that if skin changes do not occur during the infant period, diagnosis may be delayed. Since the family history revealed no further affected individuals and the mother had no history of abortions with two living healthy sons, sporadic mutation may have occurred in this child.