Results 71 to 80 of about 2,525 (203)
, 2017 A case of incontinentia pigmenti in a 1-month-old infant girl is described. The patient had an associated raised alkaline phosphatase level, hyperphosphataemia, as well as abnormalities of the plasma proteins.
Perlman, MM
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Extensive Erosions and Ulcerations in a Newborn
Pediatric Dermatology, Volume 42, Issue 6, Page 1283-1285, November/December 2025.
Isabel Yoon +4 more
wiley +1 more source
Serial cytokine expressions in infants with incontinentia pigmenti
, 2014 NF-kappa B dysfunction resulting from NEMO (NF-kappaB essential modulator) mutation can lead to significant alterations in cytokine production.
Liao, Sui-Ling;Lai, Shen-Hao;Huang, Jing-Long;Lee, Ni-Chung;Lee, Wen-I +1 more
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Incontinentia pigmenti -menetelmävertailu : IP-MLPA-kitin soveltuvuus genetiikan laboratorion käyttöön [PDF]
, 2017 Incontinentia pigmenti on dominantisti periytyvä kromosomaalinen sairaus. Sairauden aiheuttaa toiminnaltaan vaillinainen X-kromosomissa sijaitseva IKBKG-geeni. Yleisin kromosomimuutos geenissä on 4-10 eksonien deleetio.
Vilkkinen, Anna-Aurora
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Use of Fluorescein Angiography in Incontinentia Pigmenti: A Case Report
, 2013 The authors present the case of a 6-month-old female infant with a known diagnosis of incontinentia pigmenti with a normal examination by indirect ophthalmoscopy.
Ditte J. Hess +11 more
core +1 more source
Incontinentia pigmenti: A propósito de un caso.
Revista Médica Herediana, 1995 Incontinentia Pigmenti is a rare X-linked multisystem neuroectodermic disorder with signs and symptoms related mainly to the dermatologic, dental, ocular and central nervous systems, and characterized by death in the majority of male embryos.
Carlos Tori Tori +3 more
doaj
American Journal of Ophthalmology Case Reports, 2017 Purpose: To describe a patient with incontinentia pigmenti (IP) and Raynaud's phenomenon (RP). Observations: A 5 year-old girl with history of IP was noted to have RP.
Margaret A. Greven, Darius M. Moshfeghi
doaj +1 more source
, 2017 We report the case of a 17-year-old girl with incontinentia pigmenti who developed multiple large hyperkeratotic tumors within Blaschkoid hyperpigmented patches on her left leg.
Brittany Barros +7 more
core +1 more source
Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm
, 2022 It is extremely rare for males with incontinentia pigmenti to survive. We summarize a diagnostic evaluation protocol for such individuals to provide an explanation for male ...
Tsai, Meng Che +8 more
core +1 more source
A 7-year-old female child of incontinentia pigmenti presenting with vitreous hemorrhage
Indian Journal of Ophthalmology, 2017 Incontinentia pigmenti (IP) is a rare disease with multisystemic anomalies, which commonly presents just after birth. Here, we report a rare case of IP patient with vitreous hemorrhage in school-age children.
Sung-Ying Huang +2 more
doaj +1 more source