Incontinentia Pigmenti in a newborn: Case report and review of the literature
Incontinentia Pigmenti in a newborn: Case report and review of the literature

Margarida Silva Fonseca [1] , Maria do Céu Ribeiro [2] , Sónia Lira [3] , Alberto Mota [4]


Incontinentia Pigmenti (IP) is a rare X-linked dominant genodermatosis resulting from mutations in IKBKG gene, affecting primary females. Most cases present with early dermatologic changes, but clinical features can be found in hair, teeth, nails, eyes, and central nervous system (CNS). A typical 4 stages skin chronologic evolution occurs from the first weeks of life and may persist into adulthood: vesicobullous, verrucous/inflammatory, hyperpigmentar and atrophic (some stages may overlap). A distribution pattern along Blaschko's Lines (BL) is typical. We describe a newborn report focusing on the aesthetic relevance and we enhance an early and correct diagnosis based on reviewed literature. A 6-day-old female neonate presented with a progressive vesicobullous eruption in the trunk, limbs and scalp, as well as infected skin lesions. No systemic involvement was found and she underwent intravenous antibiotherapy. Inflammatory markers, blood culture and polymerase chain reaction (PCR) studies to herpes simplex virus (HSV) and varicella-zoster virus (VZV) were negative. Skin biopsy was compatible with IP and IKBKG mutation was confirmed. There was spontaneous regression of most skin lesions. She had no extra-cutaneous complications and growth and psychomotor development were satisfactory until 18-months-old. This report alerts to a rare disease with potential morbidity and great aesthetic relevance, often misdiagnosed and mistaken for more common neonatal skin infections.
Incontinentia Pigmenti (IP) is a rare X-linked dominant genodermatosis resulting from mutations in IKBKG gene, affecting primary females. Most cases present with early dermatologic changes, but clinical features can be found in hair, teeth, nails, eyes, and central nervous system (CNS). A typical 4 stages skin chronologic evolution occurs from the first weeks of life and may persist into adulthood: vesicobullous, verrucous/inflammatory, hyperpigmentar and atrophic (some stages may overlap). A distribution pattern along Blaschko's Lines (BL) is typical. We describe a newborn report focusing on the aesthetic relevance and we enhance an early and correct diagnosis based on reviewed literature. A 6-day-old female neonate presented with a progressive vesicobullous eruption in the trunk, limbs and scalp, as well as infected skin lesions. No systemic involvement was found and she underwent intravenous antibiotherapy. Inflammatory markers, blood culture and polymerase chain reaction (PCR) studies to herpes simplex virus (HSV) and varicella-zoster virus (VZV) were negative. Skin biopsy was compatible with IP and IKBKG mutation was confirmed. There was spontaneous regression of most skin lesions. She had no extra-cutaneous complications and growth and psychomotor development were satisfactory until 18-months-old. This report alerts to a rare disease with potential morbidity and great aesthetic relevance, often misdiagnosed and mistaken for more common neonatal skin infections.
Bölüm CRP
Yazarlar

Yazar: Margarida Silva Fonseca

Yazar: Maria do Céu Ribeiro

Yazar: Sónia Lira

Yazar: Alberto Mota

Tarihler

Yayımlanma Tarihi : 23 Şubat 2016

Bibtex @ { jps615054, journal = {Journal of Pediatric Sciences}, issn = {}, eissn = {1309-1247}, address = {}, publisher = {Bilal YILDIZ}, year = {2016}, volume = {8}, pages = { - }, doi = {10.17334/jps.67586}, title = {Incontinentia Pigmenti in a newborn: Case report and review of the literature}, key = {cite}, author = {Fonseca, Margarida Silva and Ribeiro, Maria do Céu and Lira, Sónia and Mota, Alberto} }
APA Fonseca, M , Ribeiro, M , Lira, S , Mota, A . (2016). Incontinentia Pigmenti in a newborn: Case report and review of the literature . Journal of Pediatric Sciences , 8 (0) , . DOI: 10.17334/jps.67586
MLA Fonseca, M , Ribeiro, M , Lira, S , Mota, A . "Incontinentia Pigmenti in a newborn: Case report and review of the literature" . Journal of Pediatric Sciences 8 (2016 ): <https://dergipark.org.tr/tr/pub/jps/issue/19092/615054>
Chicago Fonseca, M , Ribeiro, M , Lira, S , Mota, A . "Incontinentia Pigmenti in a newborn: Case report and review of the literature". Journal of Pediatric Sciences 8 (2016 ):
RIS TY - JOUR T1 - Incontinentia Pigmenti in a newborn: Case report and review of the literature AU - Margarida Silva Fonseca , Maria do Céu Ribeiro , Sónia Lira , Alberto Mota Y1 - 2016 PY - 2016 N1 - doi: 10.17334/jps.67586 DO - 10.17334/jps.67586 T2 - Journal of Pediatric Sciences JF - Journal JO - JOR SP - EP - VL - 8 IS - 0 SN - -1309-1247 M3 - doi: 10.17334/jps.67586 UR - https://doi.org/10.17334/jps.67586 Y2 - 2020 ER -
EndNote %0 Journal of Pediatric Sciences Incontinentia Pigmenti in a newborn: Case report and review of the literature %A Margarida Silva Fonseca , Maria do Céu Ribeiro , Sónia Lira , Alberto Mota %T Incontinentia Pigmenti in a newborn: Case report and review of the literature %D 2016 %J Journal of Pediatric Sciences %P -1309-1247 %V 8 %N 0 %R doi: 10.17334/jps.67586 %U 10.17334/jps.67586
ISNAD Fonseca, Margarida Silva , Ribeiro, Maria do Céu , Lira, Sónia , Mota, Alberto . "Incontinentia Pigmenti in a newborn: Case report and review of the literature". Journal of Pediatric Sciences 8 / 0 (Şubat 2016): - . https://doi.org/10.17334/jps.67586
AMA Fonseca M , Ribeiro M , Lira S , Mota A . Incontinentia Pigmenti in a newborn: Case report and review of the literature. Journal of Pediatric Sciences. 2016; 8(0): -.
Vancouver Fonseca M , Ribeiro M , Lira S , Mota A . Incontinentia Pigmenti in a newborn: Case report and review of the literature. Journal of Pediatric Sciences. 2016; 8(0): -.
IEEE M. Fonseca , M. Ribeiro , S. Lira ve A. Mota , "Incontinentia Pigmenti in a newborn: Case report and review of the literature", Journal of Pediatric Sciences, c. 8, sayı. 0, Şub. 2016, doi:10.17334/jps.67586

Makalenin Yazarları
Margarida Silva Fonseca [1]
Maria do Céu Ribeiro [2]