Results 41 to 50 of about 1,818 (165)
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 or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis [PDF]
Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented ...
Gabriela Franco Marques +2 more
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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
Pediatric Dermatology, Volume 42, Issue 3, Page 620-624, May/June 2025.ABSTRACT Congenital erosive and vesicular dermatosis (CEVD) is a rare condition that typically presents at birth with erosions and vesicles that heal with distinctive reticulate and supple scarring. We report two cases of CEVD in term infants, both of which exhibited unique features.
Lindy Moxham +2 more
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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
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BMC Pediatrics, 2019 Background Incontinentia Pigmenti is a rare disease affecting multiple organs. Fifty of patients show affection of the eye with retinopathy and possible amaurosis being the worst outcome.
S. Kunzmann +6 more
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Journal of Paediatrics and Child Health, Volume 61, Issue 3, Page 472-481, March 2025.ABSTRACT Aim Angiostrongylus cantonensis, the leading cause of eosinophilic meningoencephalitis, is well established in eastern Australia. Prolonged wet weather in Queensland during 2021–2022 coincided with anecdotal reports of increased neuroangiostrongyliasis cases, prompting an evaluation of paediatric cases from 2013 to 2022.
Nadia Hasan +5 more
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ACR Open Rheumatology, Volume 7, Issue 2, February 2025.The aim of this study was to explore the impact of rare and ultra‐rare genetic variants on the understanding and treatment of autoimmune and autoinflammatory diseases with a focus on systemic lupus erythematosus (SLE) and Behçet syndrome. This review summarizes current research on the monogenic causes of SLE and Behçet syndrome, highlighting the ...
Alexandre Belot +5 more
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Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
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Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Introduction: Gemination and fusion are rare developmental anomalies that can present significant diagnostic challenges. Due to the complexity of distinguishing between these conditions, the term “double tooth” is commonly employed in clinical practice.
Matteo Pellegrini +6 more
wiley +1 more source