Results 41 to 50 of about 1,259,329 (163)
Bloch-Sulzberger syndrome vs autism spectrum disorders [PDF]
Introducere. Sindromul Bloch-Sulzberger, cunoscut şi ca Incontinentia pigmenti sau Bloch-Siemens, este o genoder-matoză rară, cu transmitere X-linkată dominantă, cauzată de mutaţii patogene în gena IKBKG (numită şi NEMO), cu manifestări multisistemice ...
Hadjiu, Svetlana +3 more
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Pigmento nelaikymas (Bloch-Sulzberger sindromas) naujagimystėje [PDF]
, 2005 A female newborn presented with emerging skin lesions, systemic eosinophilia, and eosinophilic reaction in the skin, liver, lungs, spleen, lymphatic nodes, porencephalia, convulsions, and disorders of thermoregulation.
Buinauskaitė, Evelina +2 more
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Aspects of dental management in Bloch-Sulzberger syndrome: an integrative review
, 2021 ncontinentia Pigmenti or Bloch-Sulzberger syndrome (SBS) is a rare inherited genodermatosis linked to the X chromosome that mainly affects women. The diagnosis of SBS is mainly based on clinical characteristics, especially cutaneous findings in addition ...
Tavares, Carol Ellen Silva +1 more
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Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene. Affected women have a 50% chance of transmitting the defective gene, while male fetuses usually do not survive due to the lethal ...
Ninda Sari, Mikyal Bulqiah
doaj +1 more source
Incontinentia Pigmenti In A Male Infant: A Case Report
Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis with an estimated incidence of 0.7–1.2 per 100,000 live births. It is caused by mutations in the IKBKG gene.
Arifiana Wungu Kartika Dewi +5 more
doaj +1 more source
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2006 Incontinentia pigmenti or Bloch-Sulzberger syndrome, is a rare X linked dominant disorder with characteristic skin, hair, eye, dental and neurological abnormalities commonly affecting females.
Hegde Sundeep, Bhat S, Soumya S, Pai D
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CASE REPORT: CENTRAL PRECOCIOUS PUBERTY IN A CHILD WITH BLOCH-SULZBERGER SYNDROME. [PDF]
, 2015 Objective: To describe a case of a child with IncontinentiaPigmenti associated with precocious puberty. Case description: a 1 year 7 months old female babywas taken by her parents to a medical appointment because of an aggravation of skin spots with a ...
Oliveira, Isabella Carvalho +4 more
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Bloch-Sulzberger syndrome: a rare genodermatosis
International Journal of Contemporary Pediatrics, 2023 A 6 month old female child was admitted with complaints of delayed developmental milestones and multiple hyperpigmented patches on the trunk, limbs, axilla and groin. At birth the baby had diffuse vesciculo-bullous rash. Currently the child has global developmental delay with seizures with investigations suggesting the same.
openaire +1 more source
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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Incontinentia Pigmenti in a Newborn. A Case Report
Medisur, 2015 Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is an X-linked dominant neurocutaneous syndrome, which variably affects the tissues derived from the neuroectoderm and mesoderm including the skin, hair, nails, eyes, central nervous system
Yahiris García Rodríguez +1 more
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