Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Encephalopathy

Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.


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PMID (PMCID)
26706482
(4691526)
 FEMALE Infant, Newborn
Cerebral Arteriopathy in a Newborn With Incontinentia Pigmenti.
Mulkey SB, Ramakrishnaiah RH, Balmakund TM.
Pediatr Neurol. 2016;54:76-81.
Incontinentia pigmenti is a rare X-linked neurocutaneous disorder that can present in the neonatal period with seizures and encephalopathy.
23180410
 FEMALE
Incontinentia pigmenti presenting as encephalopathy.
K N Gowda V, Mouly C, Biswas A, Shivananda S.
Indian J Pediatr. 2013;80(11):968-71.
Incontinentia pigmenti presenting as encephalopathy.
18241293
 FEMALE Infant, Newborn
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
Loh NR, Jadresic LP, Whitelaw A.
Acta Paediatr. 2008;97(3):379-81.
Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy.
18241293
 FEMALE Infant, Newborn
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
Loh NR, Jadresic LP, Whitelaw A.
Acta Paediatr. 2008;97(3):379-81.
A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation.
15956533
 FEMALE Infant, Newborn
Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.
Wolf NI, Kramer N, Harting I, Seitz A, Ebinger F, Poschl J, Rating D.
AJNR Am J Neuroradiol. 2005;26(6):1580-2.
We describe a neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti.
15956533
 FEMALE Infant, Newborn
Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.
Wolf NI, Kramer N, Harting I, Seitz A, Ebinger F, Poschl J, Rating D.
AJNR Am J Neuroradiol. 2005;26(6):1580-2.
Incontinentia pigmenti should be included in the differential diagnosis of encephalopathy and cutaneous involvement in neonates, after a viral infection has been ruled out.
7673553
 FEMALE Infant, Newborn
Destructive encephalopathy in incontinentia pigmenti: a case report.
Yang JH, Ma SY, Tsai CH.
J Dermatol. 1995;22(5):340-3.
Our report suggests that incontinentia pigmenti with encephalopathy may have a fatal prognosis.
7673553
 FEMALE Infant, Newborn
Destructive encephalopathy in incontinentia pigmenti: a case report.
Yang JH, Ma SY, Tsai CH.
J Dermatol. 1995;22(5):340-3.
We report a 2-day-old neonate with incontinentia pigmenti combined with destructive encephalopathy.
7673553
 FEMALE Infant, Newborn
Destructive encephalopathy in incontinentia pigmenti: a case report.
Yang JH, Ma SY, Tsai CH.
J Dermatol. 1995;22(5):340-3.
Destructive encephalopathy in incontinentia pigmenti: a case report.