A Case Report of Incontinentia Pigmenti in a Newborn with Positive Family History Extending Over Three Generations
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The case of a two day-old female newborn with inflammatory vesiculopustular lesions on the right forearm and lower limbs, who was in a good general condition, highlighted the importance of a detailed diagnostic workup for the newborns with pustular skin disease.Abstract:
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that presents at the time of birth or soon after birth with cutaneous manifestation. This disorder may also affect the ectodermal tissues, such as the central nervous system, skeletal system, eyes, hair, nails, and teeth. The dermatological findings occur in four successive phases.Case report: Herein, we presented the case of a two day-old female newborn with inflammatory vesiculopustular lesions on the right forearm and lower limbs, who was in a good general condition. The patient had a history of similar disease in three other members of her family, who had dental abnormalities as the most common non-cutaneous manifestation. This case report highlighted the importance of a detailed diagnostic workup for the newborns with pustular skin disease.Conclusion: IP is a rare, x-linked dominant genodermatosis with multiple organs involvement. Dermatological abnormalities are the most prominent manifestation. The diagnosis is based on the clinical findings, the presence of positive family history of skin vesiculopustular lesions support the diagnosis. The skin lesions do not require specific treatment and prognosis depend to other organs involvement.read more
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Incontinentia pigmenti with ocular, cutaneous and CNS manifestation
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.
References
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Journal ArticleDOI
Clinical study of 40 cases of incontinentia pigmenti.
Smail Hadj-Rabia,David Froidevaux,Nathalie Bodak,D. Hamel-Teillac,Asma Smahi,Yasmina Touil,Sylvie Fraitag,Yves de Prost,Christine Bodemer +8 more
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.
Journal ArticleDOI
Incontinentia pigmenti diagnostic criteria update
TL;DR: In the diagnosis of IP, the presence of IKBKG mutation typical for IP, and existence of family relatives with diagnosed IP are taken into account and proposed as major criteria one of the stages of IP skin lesions.
Journal ArticleDOI
Incontinentia pigmenti: report on data from 2000 to 2013.
Francesca Fusco,Mariateresa Paciolla,Matilde Immacolata Conte,Alessandra Pescatore,Elio Esposito,Peppino Mirabelli,Maria Brigida Lioi,Matilde Valeria Ursini +7 more
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.
Journal ArticleDOI
Incontinentia Pigmenti: A Comprehensive Review and Update.
TL;DR: An updated review of the literature, highlighting diagnosis, epidemiology, pathophysiology, clinical features, and management ofcontinentia pigmenti, a rare syndrome with skin lesions, ocular abnormalities in the retina and elsewhere, central nervous system abnormalities, and teeth defects.
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Structural Abnormalities of the Inner Macula in Incontinentia Pigmenti
J. Basilius,Marielle P. Young,Timothy C. Michaelis,Ronald Hobbs,Glen Jenkins,M. Elizabeth Hartnett +5 more
TL;DR: Besides traction retinal detachment, vision loss in IP can occur with abnormalities of the inner foveal structure seen on spectral-domain optical coherence tomography, consistent with prior descriptions of fveal hypoplasia.