Incontinentia pigmenti Bloch-Sulzberger. Case report

Background. Bloch-Sulzberger syndrome (incontinentia pigmenti) is an x-link ed dominant disease, affecting the skin, the central nervous system, the ey es, the teeth and the skeleton with variable expression. Diagnosis is suspe cted 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 c erebral medulla and cortex at the age of two days. Thereafter the child dev eloped mental retardation, spastic tetra-paresis and microcephaly. There we re no distinct skin eruptions. A typical generalised dermatosis appearing w ith papular and pustular lesions resulting into reticular hyperpigmentation became evident at the age of two years when she suffered from septic lymph adenitis. 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 durin g the infant period, diagnosis may be delayed. Since the family history rev ealed no further affected individuals and the mother had no history of abor tions with two living healthy sons, sporadic mutation may have occurred in this child.