Open AccessJournal Article
Incontinentia Pigmenti: Case Report
Reads0
Chats0
TLDR
A case of a female newborn exhibiting characteristic cutaneous and neurologic findings with one-year follow-up is reported.Abstract:
Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disorder with characteristic skin, hair, eye, dental and neurologic abnormalities mostly affecting females. We report a case of a female newborn exhibiting characteristic cutaneous and neurologic findings with one-year follow-up.read more
Citations
More filters
Journal ArticleDOI
Systematic review of central nervous system anomalies in incontinentia pigmenti
TL;DR: The frequency of CNS anomalies, similar to the frequency of retinal anomalies in IP patients, concurrent with their severity, supports their recognition in the list of IP minor criteria.
Journal ArticleDOI
Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.
Fahimeh Abdollahimajd,Minoo Fallahi,Mohammad Kazemian,Yalda Nilipour,Mitra Radfar,Sedigheh Tahereh Tehranchi +5 more
TL;DR: A 12-day female newborn with a history of maternal genital HSV in second trimester and vesicular lesions on the upper and lower limbs that was appeared at first hours of life is presented.
Journal ArticleDOI
A 6-Month-Old Girl with Incontinentia Pigmenti Presenting as Status Epilepticus.
TL;DR: Findings indicate that when a patient presents with status epilepticus, meticulous examination for skin lesions should be performed to determine whether the patient has a neurocutaneous syndrome, such as IP.
Journal Article
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl.
TL;DR: The case of a 10-year-old female presented cutaneous, dental and ophthalmic characteristic with 3 years follow-up and there was a mutation in the body cells due to incontinentia pigmenti.
References
More filters
X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report Incontinência pigmentar ligada ao X ou síndrome de Bloch-Sulzberger: relato de um caso
TL;DR: Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates as mentioned in this paper, which is a possible differential diagnosis when vesicu- lobullous and verrucous lesions are present in childhood.
Journal Article
Utility of molecular studies in incontinentia pigmenti patients
TL;DR: Four families of IP are presented in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis.
Journal ArticleDOI
Incontinentia pigmenti in a newborn with NEMO mutation.
TL;DR: A Korean female baby is reported with IP confirmed by mutation analysis of NEMO gene, a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator.
Journal ArticleDOI
Dental anomalies in two patients with incontinentia pigmenti.
TL;DR: The findings suggest that IP may present a broad variation of dental anomalies individually, and the characteristic finding of permanent anterior teeth with a longer crown and a shorter root found in both of the authors' IP patients may be worthy of consideration in the differential diagnosis of IP.
Journal Article
Incontinentia pigmenti: a case report.
TL;DR: The oral and dental manifestations of an IP case in a Venezuelan pediatric patient showed macular pigmented lesions in her face, trunk, back, legs, and fingers as well as abnormal hair distribution, alopecia on the vertex, and hypoplasia of eyebrows.