Results 11 to 20 of about 2,525 (203)
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
doaj +2 more sources
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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A rare case of neurocutaneous disorders of the newborn: Incontinentia pigmenti
Indian Journal of Paediatric Dermatology, 2018 Incontinentia Pigmenti (IP) is a rare X-linked dominant disorder which is mostly lethal for males. It effects hair, teeth, nails, eyes and central nervous system along with skin.
Melek Aslan Kayiran +3 more
doaj +2 more sources
Incontinentia pigmenti with neurologic and oculodental disorders
Indian Journal of Paediatric Dermatology, 2016 Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro +1 more
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Incontinentia pigmenti: case report and 5-year follow-up
Acta Odontologica Turcica, 2017 Introduction: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) is a disease of organ involvement with ectodermic and mesodermic origin, showing dominant transition based on the X-chromosome. It affects the skin, eyes, teeth, and central nervous system.
Ayşegül Sarı, Salih Çelik
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Sporadic case of incontinentia pigmenti in identical twins
Indian Journal of Paediatric Dermatology, 2017 Incontinentia pigmenti (IP) is a rare genodermatoses with multisystem involvement. Monochorionic diamniotic twins are presented with characteristic skin manifestation and ocular and neurological involvement.
Shekhar Neema +2 more
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Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report
Therapeutics and Clinical Risk Management, 2017 Abduljabbar Alshenqiti,1 Marwan Nashabat,1 Hissah AlGhoraibi,1 Omar Tamimi,2 Majid Alfadhel1 1Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz Uiversity for Health Sciences ...
Alshenqiti A +4 more
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Incontinentia pigmenti in Cajamarca: A case report on infant
Horizonte Médico, 2015 Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare dominant X-linked disease characterized by skin lesions. It may be accompanied by neurological, ophthalmological and dental manifestations. We report the case of a one month and twenty
Gálvez-Marticorena Brayan +1 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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