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).

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.

Total: 13

(per page)

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.
	We describe a neonate with the typical rash of incontinentia pigmenti along with seizures and brain magnetic resonance imaging abnormalities.
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.
	Despite extensive cerebral arteriopathy in association with incontinentia pigmenti, this girl had a relatively stable early clinical course, steady developmental progress over time, and seizures that have been well controlled.
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.
24682289	MIXED_SAMPLE	Infant, Newborn
	High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.
	Wolf DS, Golden WC, Hoover-Fong J, Applegate C, Cohen BA, Germain-Lee EL, Goldberg MF, Crawford TO, Gauda EB. J Child Neurol. 2015;30(1):100-6.
	High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.
25238668	FEMALE	Infant, Newborn
	Cerebrospinal fluid oxidative stress marker levels and cytokine concentrations in a neonate with incontinentia pigmenti.
	Ohkawa N, Okumura A, Miyata R, Tanuma N, Hayashi M, Sato H, Shimizu T. Pediatr Neurol. 2014;51(5):737-40.
	Some children with incontinentia pigmenti exhibit encephalopathic features with severe seizures and disturbed consciousness, from the neonatal through the early infantile period.
21509293	OTHER
	A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.
	Al-Zuhaibi S, Ganesh A, Al-Waili A, Al-Azri F, Javad H, Al-Futaisi A. Sultan Qaboos Univ Med J. 2009;9(2):157-61.
	A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.
17938957	FEMALE	Infant, Newborn
	Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis.
	Kaczala GW, Messer MA, Poskitt KJ, Prendiville JS, Gardiner J, Senger C. Eur J Pediatr. 2008;167(9):979-83.
	Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis.
17990592	FEMALE	Infant, Newborn
	A rare cause of neonatal seizure: incontinentia pigmenti.
	Turkmen M, Eliacik K, Temocin K, Savk E, Tosun A, Dikicioglu E. Turk J Pediatr. 2007;49(3):327-30.
	A rare cause of neonatal seizure: incontinentia pigmenti.
13679126	FEMALE	Infant, Newborn
	Bilateral cerebrovascular accidents in incontinentia pigmenti.
	Fiorillo L, Sinclair DB, O'Byrne ML, Krol AL. Pediatr Neurol. 2003;29(1):66-8.
	Incontinentia Pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation.
12437562	FEMALE	Infant, Newborn
	Incontinentia pigmenti presenting as seizures.
	Hubert JN, Callen JP. Pediatr Dermatol. 2002;19(6):550-2.
	This case of incontinentia pigmenti is of interest in that the initial symptom was a seizure disorder.
9202806	FEMALE	Infant
	Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography.
	Kasai T, Kato Z, Matsui E, Sakai A, Nishida T, Kondo N, Taga T. Acta Paediatr. 1997;86(6):665-7.
	A 2-month-old girl with incontinentia pigmenti presented with acute-onset right-handed focalized seizures and subsequent seizure generalization.
9202806	FEMALE	Infant
	Cerebral infarction in incontinentia pigmenti: the first report of a case evaluated by single photon emission computed tomography.
	Kasai T, Kato Z, Matsui E, Sakai A, Nishida T, Kondo N, Taga T. Acta Paediatr. 1997;86(6):665-7.
	A 2-month-old girl with incontinentia pigmenti presented with acute-onset right-handed focalized seizures and subsequent seizure generalization.
413437	MIXED_SAMPLE	Infant, Newborn
	Ocular findings in triploidy.
	Fulton AB, Howard RO, Albert DM, Hsia YE, Packman S. Am J Ophthalmol. 1977;84(6):859-67.
	A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness.