Results 41 to 50 of about 1,970 (171)
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
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
Anais Brasileiros de Dermatologia, 2010 A incontinência pigmentar é uma genodermatose rara, ligada ao X, que afeta, principalmente, neonatos do sexo feminino. As manifestações cutâneas são as mais prevalentes, e ocorrem em quatro fases bem distintas. Lactente feminina com lesões vesicobolhosas
Marcela A. C. Pereira +4 more
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Pigmentary Mosaicism: An Overview
JEADV Clinical Practice, Volume 4, Issue 3, Page 681-689, August 2025.Pigmentary mosaicism is reflected by a patterned hypo‐, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal ...
C. Colmant +3 more
wiley +1 more source
Categories of Cutaneous Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 652-658, August 2025.ABSTRACT In this overview, the following 12 different categories of cutaneous mosaicism are considered: (1) Discrimination between monoallelic and biallelic mosaicism in autosomal dominant traits; (2) Segmental versus disseminated mosaicism in autosomal dominant disorders.
Rudolf Happle
wiley +1 more source
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
Avascular Peripheral Retina in Infants
Türk Oftalmoloji Dergisi, 2023 Avascular peripheral retina in an infant is a common characteristic of numerous pediatric retinal vascular disorders and often presents a diagnostic challenge to the clinician.
Şengül Özdek +12 more
doaj +1 more source
Clinical Classification of Mosaicism
JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti +3 more
wiley +1 more source
Incontinencia pigmenti en estadio vésico ampolloso. Reporte de dos casos
Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2006 La incontinencia pigmenti es una genodermatosis multisistémica ligada al cromosoma X, caracterizada por lesiones cutáneas que evolucionan a través de cuatro estadios.
Paula A. Mejía +3 more
doaj
Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler +12 more
wiley +1 more source