Incontinentia pigmenti in 2 newborn infants

Incontinentia pigmenti (IP) is a genodermatosis, which is of X-linked dominant transmission, uncommonly diagnosed in newborn babies. The skin lesions usually develop in 4 stages: inflammatory, hypertrophic, pigmentary and regressive. The authors report 2 cases of IP in female newborn babies who were previously treated for pyodermatitis.     

Incontinentia pigmenti: a report of ten cases

A multidisciplinary approach is necessary in the care of patients with incontentia pigmenti (Bloch-Sulzberger syndrome).     

Incontinentia pigmenti. Initial and long-term characteristics

We report two cases of incontinentia pigmenti diagnosed in the neonatal period. Both patients presented with disseminated vesicular lesions. Neither patient had extra-dermatological symptoms at diagnosis. The definitive diagnosis was established by cutaneous biopsy. In the initial phase of the disease, the lesions can be similar to those of herpes simplex infection, but characteristic distribution and clinical course allow the differential diagnosis to be established. This disease should be included in the differential diagnosis of vesicular rashes because early detection allows better management of the possible associated systemic manifestations.     

Incontinentia pigmenti with unusual features.

A case is presented of incontinentia pigmenti with severe neurological handicaps and unusual features such as single umbilical artery, pigmented lesion at birth, and biochemical changes including elevated alkaline phosphatase and immunoglobulin M.     

Incontinentia pigmenti. A longitudinal study

We describe 15 patients with incontinentia pigmenti whom we have followed up from two to 11 years. This longitudinal approach allowed us to observe the course of the skin lesions and developmental progress of these children. We found that in contrast to what has been previously reported in most of the literature, the bullous and verrucous lesions do not always resolve during the first or second year of life and may recur throughout childhood. Although most patients with incontinentia pigmenti are of normal intelligence, those with neonatal seizures have a poor prognosis for normal development.     

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 hyperpigmentation 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.     

Incontinentia pigmenti. Apropos of a new case

This paper describes a new case of Incontinentia Pigmenti in a newborn. This genodermatosis develops mostly in females and three clinical stages are recognized. Other ectodermal abnormalities may be associated with a risk for the prognosis. The clinical, histological features and differential diagnosis are discussed.     

Incontinentia pigmenti. Four patients with different clinical manifestations

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.