Results 11 to 20 of about 3,858 (212)
Incontinentia pigmenti in a child with suspected retinoblastoma
International Journal of Retina and Vitreous, 2017 Background Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities.
Stephanie J. Weiss +3 more
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Case reports of incontinentia pigmenti in males
Indian Journal of Dermatology, 2013 Incontinentia pigmenti is an X-linked dominant disorder, which is fatal in males, and majority of cases reported are in females. Here, we report 2 cases of males with incontinentia pigmenti.
Khushboo D Gupta +3 more
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Manifestações clínicas e desafios diagnósticos na Síndrome de incontinentia pigmenti
Revista Brasileira de Oftalmologia, 2010 A Síndrome de Incontinentia Pigmenti (Síndrome de Bloch-Sulzberger) é uma doença rara, ligada ao cromossomo X e envolve tecidos ectodérmicos de múltiplos órgãos. As manifestações oculares surgem ao nascimento ou após algumas semanas.
Paula Kataguiri +5 more
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Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case [PDF]
Digital Diagnostics, 2023 Incontinentia pigmenti, also known as Bloch–Sulzberger syndrome, is a rare hereditary disease characterized by typical skin rashes and involvement of other organs and systems.
Igor I. Yarmola +8 more
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Actas Dermo-Sifiliográficas, 2019 Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births.
CammarataScalisi F, Fusco F, Ursini M V
openaire +5 more sources
Bloch Sulzberger syndrome (Incontinentia pigmenti): A rare case report with dental defects
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2015 Incontinentia Pigmenti (IP) is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. This article reports the clinical features and management of a 4-year-old girl diagnosed with IP.
Yaga Uday Shankar +3 more
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Retinopathy in incontinentia pigmenti
Indian Journal of Ophthalmology, 2019 Pukhraj Rishi +2 more
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O'simliklarda xlorofill pigmenti ahamiyati
, 2022 Xlorofill pigmenti òsimliklar uchun ahamiyati, kimyoviy xossalari haqida ba'zi ...
Jovliyev Baxtiyor Xolboyevich1, Javliyev Furqat Baxtiyorovich2, Qo'yliyeva Mahbuba Uzoqovna2, Ulug'murodov Temurbek3, Kulberdiyev Abdullo3, Shodiyev Abdulaziz3
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Kapoyt/blu: alla scoperta della storia armena di un colore
Lanx, 2012 The study begins with an analysis of the semantics of the Armenian word kapoyt, blue, taking into account its different uses in Armenian literature, e.g.
Marco Bais
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Biodeterioration and chemical conservation of Bhimkichak Temple, Malhar, Chhattisgarh, India
Conservation Science in Cultural Heritage, 2012 Stone cultural heritage materials are at risk of bio-deterioration caused by diverse populations of microorganisms living in biofilms. The microbial metabolites of these biofilms are responsible for the deterioration of the underlying substratum and may ...
Sanjay Prasad Gupta +2 more
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