Incontinentia pigmenti (IP) – Bloch - Sulzberger syndrome: case report

Introduction: IP is a very rare, inherited and multisystemic disease transferred as X-linked dominant trait almost exclusively in girls (95%). In most cases IP is antenatally lethal for males. The disease is characterized by malformations and anomalies of the skin, hair, nails, eyes, tooth and central nervous system (CNS). It is manifested during the early neonatal period and was named after typical skin changes described by B l o c h in 1926 and S u l z b e r g e r in 1925. There are two different types of the disease: the first more frequent classical type (IP type 2 or family type) lethal for boys and the second sporadic type less frequent (IP type 1), described earlier in the literature as hypomelanosis of Ito. IP type 2 is caused by mutation of NEMO gene located on Xq28 while IP type 1 occurs as a result of „de novo“ mutation on xp 11 region. Case report: Our patient is a girl now 5 years old with symptoms and signs of IP type 2. She has suffered since early infancy from symptomatic epilepsy, spastic leftside hemiparesis with mild to moderate psychomotor retardation. Skin scaling on hands and foot was noticed at birth. The diagnosis of IP was confirmed by skin biopsy. Cytology studies showed epidermal eosinophilia. The skin changes which had inflammatory features in the beginning of the disease later faded. Ophthalmo-logical analysis revealed vitroretinal proliferation, retinal ablation and an atrophic right eyeball. Brain CT and MR scan showed hypoplastic corpus callosum, reduction of brain white matter and slight ventricular dilatation – radiological findings often present in IP.There is no special treatment for IP except the alleviation of the disease symptoms. We emphasized how important is to prevent infections. The control of epileptic seizures and physical therapy are the main tasks in management of our patient Therefore she is being followed up by a team of specialists : a neuro-paediatrician, psychologist, ophthalmologist, physiotherapist and dermatologist.
Category: Abstracts
Volume: Vol. 52, No 3, july - september 2008
Authors: M. Jurin, M. Weiss
Reference work:

Read more