Incontinentia Pigmenti Misdiagnosed as Neonatal Herpes Simplex Virus Infection.
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.
Abstract: Incontinentia pigmenti (IP) is an X-linked dominant neurocutaneous syndrome with ophthalmologic, neurologic, cutaneous, and dental manifestations and in most cases antenatally lethal in boys. Occasionally, typical IP may occur in boys due to Klinefelter syndrome or a genomic mosaicism. Skin lesions are observed in 4 stages: blistering, verrucous linear plaques, swirling macular hyperpigmentation, followed by linear hypopigmentation that develop during adolescence and early adulthood. Neonatal herpes simplex virus (HSV) infection can be manifested in 3 forms: localized, disseminated, and central nervous system (CNS) involvement. Timely diagnosis and treatment of neonatal HSV infection is critical. In this case report, we present 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. She was admitted in the maternity hospital that was born and was treated by antibiotic and acyclovir for 11 days. Then, she readmitted for her distributed vesicular lesions. The results of blood and CSF for HSV PCR were negative. Eventually the diagnosis for incontinentia pigmenti was made by consultation with a dermatologist, and skin biopsy confirmed the diagnosis.
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TL;DR: A case of a female newborn with inflammatory vesiculopustular lesions all over the body and this baby also had ocular, and CNS manifestations as well.
Abstract: Incontinentia Pigmenti (IP) is an uncommon X-linked genodermatosis, with an estimated prevalence at birth of 0.7/100,000, caused by mutations in the NEMO gene. Ectodermic and mesodermic origin of tissue is seen in this systemic disease including cutaneous tissue, teeth, eyes, and the central nervous system. Herein, we present a case of a female newborn with inflammatory vesiculopustular lesions all over the body. This baby also had ocular, and CNS manifestations as well. The importance of a detailed diagnostic workup for the newborns with pustular skin disease has been highlighted in this case. IP is a rare, x-linked dominant genodermatosis with the involvement of multiple organs. Dermatological abnormalities are the most prominent manifestation. The diagnosis is based on the clinical findings of skin lesion brain imaging and biopsy. The skin lesions do not require specific treatment and prognosis depend on other organ involvement.
TL;DR: Bei der körperlichen Untersuchung der gesamten Familie fielen bei the Mutter hypopigmentierte, striäre Flecken and Plaques an den Unterschenkeln auf, typisch für das späte Stadium einer Incontinentia pigmenti.
Abstract: Ein neugeborenes Madchen afghanischer Eltern wurde noch am Tag der Geburt mit der Verdachtsdiagnose einer kongenitalen Herpesinfektion in die Kinderklinik uberwiesen. Das ansonsten gesunde Kind wies bereits bei Geburt schuppende und vesikulose Hautveranderungen auf. Die Eltern waren Cousine und Cousin und hatten noch 3 gesunde Tochter und 2 gesunde Sohne. Im Verlauf der nachsten Tage zeigten sich bei dem Neugeborenen Papeln und lineare Hyperpigmentierungen. Das histologische Bild zeigte eine eosinophile Spongiose. In der Gesamtschau kamen wir zur Diagnose einer Incontinentia pigmenti. Bei erneuter Befragung berichtete die Mutter von 2 Aborten mit mannlichen Feten. Bei der korperlichen Untersuchung der gesamten Familie fielen bei der Mutter hypopigmentierte, striare Flecken und Plaques an den Unterschenkeln auf, typisch fur das spate Stadium einer Incontinentia pigmenti.
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TL;DR: The distribution of manifestations in a pediatric cohort and guidelines for follow-up of incontinentia pigmenti are analyzed to better understand the pathological mechanisms of IP and develop new therapies.
Abstract: Objective To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP). Design Retrospective study of 47 children referred to the Department of Pediatric Dermatology with a diagnosis of IP between 1986 and 1999. Setting The private or institutional practice of participating dermatologists and pediatricians. Main Outcome Measures Evaluation of IP clinical diagnosis using the Landy and Donnai criteria. Results Because hyperpigmentation following the Blaschko lines may be observed in several pigmented disorders, 7 patients were found misdiagnosed. During the neonatal period, erythema, vesicles, and hyperkeratotic le sions were rarely absent in the patients with IP. Ocular and neurological abnormalities were frequent (20% and 30%, respectively) but rarely severe (8% and 7.5%, respectively). Conclusions Clinical diagnosis is the first main step for a correct phenotype/genotype correlation, which remains indispensable to better understand the pathological mechanisms of IP and develop new therapies. In doubtful cases, molecular analysis is helpful but characteristic histological features must be added as major criteria for IP diagnosis. Multidisciplinary follow-up is needed, particularly during the first year of life, to detect possible ophthalmologic and neurological complications. Neuroimaging ought to be performed in the case of abnormal neurological examination results or when vascular retinopathy is detected.
180 citations
"Incontinentia Pigmenti Misdiagnosed..." refers background in this paper
...Involvement of the skin, teeth, nails, and hair is seen in conjunction with neurologic and ophthalmologic anomalies [5]....
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TL;DR: The building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity at the centre of expertise is reported on.
Abstract: We report here on the building-up of a database of information related to 386 cases of Incontinentia Pigmenti collected in a thirteen-year activity (2000–2013) at our centre of expertise. The database has been constructed on the basis of a continuous collection of patients (27.6/year), the majority diagnosed as sporadic cases (75.6%). This activity has generated a rich source of information for future research studies by integrating molecular/clinical data with scientific knowledge. We describe the content, architecture and future utility of this collection of data on IP to offer comprehensive anonymous information to the international scientific community.
68 citations
"Incontinentia Pigmenti Misdiagnosed..." refers background in this paper
...7/100,000 live birth and ophthalmologic, neurologic, cutaneous, and dental manifestations [1, 2]....
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TL;DR: Working with pregnant women to prevent mother-to-child transmission of HSV is an important component in reducing the overall disease burden of neonatal HSV infections.
Abstract: Infections with herpes simplex virus type 1 (HSV-1) or type 2 (HSV-2), both alpha herpesviruses, are highly prevalent worldwide. Both HSV types commonly cause genital infection, which, when acquired or reactivated during pregnancy, carries with it the risk of transmission to the fetus or neonate. Women who acquire primary or first-episode genital herpes during pregnancy are at greater risk for transmitting the infection than are women with recurrent genital herpes. Because viral infection and reactivation are frequently asymptomatic, many affected women are unaware of their infection and risk of transmission to their infants. Neonatal HSV infection can have devastating long-term consequences, especially when the central nervous system (CNS) is involved. Treatment of affected neonates with intravenous acyclovir has improved outcomes but there is room for further improvement, especially in regard to CNS disease. Working with pregnant women to prevent mother-to-child transmission of HSV is an important component in reducing the overall disease burden of neonatal HSV infections.
58 citations
TL;DR: Advice is provided for the empirical management of infants with suspected clinical sepsis, including those who do not respond to antibacterial therapy, as well as diagnosis and prognosis according to infection category, along with testing modalities and limitations.
36 citations
"Incontinentia Pigmenti Misdiagnosed..." refers background in this paper
...Neonatal HSV can be manifested in 3 types: localized, disseminated, and central nervous system (CNS) involvement [9]....
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TL;DR: A rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome is reported.
Abstract: Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a hereditary, X-linked dominant disorder characterized by abnormalities of skin, hair, teeth, eyes, and the central nervous system. It is classically considered a male-lethal disorder leading to recurrent miscarriages of male fetuses. We report a rare case of a surviving baby boy with the classic clinical features of incontinentia pigmenti that can be explained by Klinefelter syndrome.
33 citations
"Incontinentia Pigmenti Misdiagnosed..." refers background in this paper
...It is mostly a male lethal syndrome and more than 95% of reported cases of IP occur in females, and it rarely occurs in males with Klinefelter syndrome [6]....
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