Abstract
Familial incontinentia pigmenti (IP) (OMIM #308300) is a rare genetic disorder which
segregates in an X-linked dominant way. The female-to-male ratio ranges from 20 to
37 : 1. In affected females IP causes highly variable abnormalities of the skin, hair,
nails, teeth, eyes, and central nervous system (CNS). Cardiovascular anomalies, cerebral
infarction, and immune dysfunction are rare complications of IP. The pathogenesis
of cerebral changes in IP remains elusive. We report the case of two IP-affected sisters
who presented in each case with neonatal seizures on the fifth day of life. Via cranial
magnetic resonance tomographic imaging (MRI) different types of lesions in both hemispheres
were demonstrable in both patients. To date the pathogenetic mechanisms for the cerebral
lesions are not fully understood. However, multiple microscopic infarcts could serve
as a possible explanation. The clinical course and the neurological development of
the older child are favorable and so far the younger sibling appears to be developing
normally, which is uncommon for patients with early onset of neurological symptoms.
Symptomatic seizures in IP are an important differential diagnosis in benign non-familial
and familial neonatal seizures.
Key words
Neonatal seizures - incontinentia pigmenti - magnetic resonance imaging (MRI)
References
- 1
Aradhya S, Courtois G, Raikovic A, Lewis R A, Levy M, Israël A, Nelson D L.
Atypical forms of incontinentia pigmenti in male individuals result from mutations
of a cytosine tract in exon 10 of NEMO (IKK-γ);.
Am J Hum Genet.
2001;
68
765-771
- 2
Aydmgöz Ü, Midia M.
Central nervous system involvement in incontinentia pigmenti: cranial MRI of two siblings.
Neuroradiology.
1989;
40
364-366
- 3
Cohen P R, Kurzrock R.
Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome,
familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia
pigmenti.
Dermatol Clin.
1995;
13
211-229
- 4
Eisenhaure O'Brian J, Feingold M.
Incontinentia pigmenti, a longitudinal study.
AJDC.
1985;
139
711-712
- 5
Kasai T, Kato Z, Matsui E, Sakai A, Nishida T, Kondo N, Taga T.
Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated
by single photon emission computed tomography.
Acta Paediatr.
1997;
86
665-667
- 6
Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday V.
A. Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal
dysplasia and recurrent infection.
Am J Med Gen.
2001;
99
172-177
- 7
Miteva L, Nikolova A.
Incontinentia pigmenti: a case associated with cardiovascular anomalies.
Pediatr Dermatol.
2001;
18
54-56
- 8
Pascual-Castroviejo I, Roche M C, Fernández V M, Perez-Romero M, Escudero R M, Garcia-Penas J J,
Sanchez M.
Incontinentia pigmenti: MR demonstration of brain changes.
Am J Neuroradiol.
1994;
15
1521-1527
- 9
Pfeiffer R A.
Zur Frage der Vererbung der Incontinentia pigmenti. Bloch-Siemens.
Z Menschl Vererb Konstituionsl.
1960;
35
469-493
- 10 Rosman N P.
Incontinentia pigmenti. Gomez MR Neurocutaneous Diseases: A Practical Approach. Stoneham; Butterworths 1987:
293-300
- 11
Schmeling H, Wohlrab J, Mathony K, Gaber G, Lieser U, Burdach S, Horneff G.
Incontinentia pigmenti, Morbus Bloch-Sulzberger.
Monatsschr Kinderheilkd.
2001;
149
41-44
- 12
Sefiani A, Abel L, Heuertz S, Sinnett D, Lavergne L, Labuda D, Hors-Cayla M C.
The gene for incontinentia pigmenti is assigned to Xq28.
Genomics.
1989;
4
427-429
- 13
Smahi A, Hyden-Granskog C, Peterlin B, Vabres P, Heuertz S, Fulchignoni-Lataud M C.
The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal
part of Xq28.
Hum Mol Genet.
1994;
3
273-278
- 14
The International Incontinentia Pigmenti (IP) Consortium .
Genomic rearrangement in NEMO impairs NF-kappa B activation and is a cause of incontinentia
pigmenti.
Nature.
2000;
405
466-472
- 15
Traupe H.
Functional x-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Blaschko.
Am J Med Genet.
1999;
85
324-329
- 16
Yoshikawa H, Uehara Y, Abe T, Oda Y.
Disappearance of a white matter lesion in incontinentia pigmenti.
Neurol.
2000;
23
364-367
- 17
Zonana J, Elder M E, Schneider L C, Orlow S J, Moss C, Golabi M, Shapira S K, Farndon P A,
Wara D W, Emmal S A, Ferguson B M.
A novel x-linked disorder of immune deficiency and hypohydrotic ectodermal dysplasia
is allelic to incontinentia pigmenti and due to mutation in IKK-gamma (NEMO).
Am J Hum Genet.
2000;
67
1555-1562
Dr. Gönke Pörksen
Children's Hospital
Technical University Dresden
Fetscherstraße 74
01307 Dresden
Germany
Email: gpoerksen@web.de
