Results 11 to 20 of about 1,970 (171)

Incontinentia pigmenti. A descriptive study of experience in two different hospitals

Anales de Pediatría (English Edition), 2020
Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the X chromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients ...
Sergio Ocaña Jaramillo, Javier del Boz, Ángel Vera Casaño   +2 more
doaj   +1 more source

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, Anatoly V. Anikin, Dmitry A. Gankin, Lyubov E. Fomina, Natalia A. Kharitonova, Ilya S. Zhanin, Aleksandr A. Pushkov, Milana A. Basargina, Olga B. Kondakova   +8 more
doaj   +1 more source

Incontinencia pigmenti

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

Ophthalmologic Presentations of Incontinentia Pigmenti [PDF]

Journal of Vitreoretinal Diseases
Albert S Li, Philip Ferrone
exaly   +2 more sources

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
doaj   +1 more source

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, Kavita Sharma, B.S. Chhabra   +2 more
doaj   +1 more source

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, Nikhat Fatima, Menji Ashwini Kumar, Kesary Sathya Prakash   +3 more
doaj   +1 more source

Incontinentia Pigmenti

Journal of Cutaneous Medicine and Surgery
Incontinentia pigmenti (IP) is a rare X-linked dominant, multi-system genetic disorder characterized by evolving skin lesions that occurs almost exclusively in females. Additional manifestations most often involve embryologically-derived ectodermal tissues including the central nervous system (CNS), eyes, hair, teeth and nails.
Li-Wen Zhang, Juan Wu
  +7 more sources

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, Archana Srinivasan, Michael A. Klufas, Carol L. Shields   +3 more
doaj   +1 more source

Retinopathy in incontinentia pigmenti

Indian Journal of Ophthalmology, 2019
Pukhraj Rishi, Niharika Singh, Ekta Rishi   +2 more
doaj   +3 more sources