ArticleSkin appendage disorders2025
The First Colombian Patient with
Article in Skin appendage disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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3 authors.
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Abstract
Introduction: Ectodermal dysplasias (ED) encompass a broad group of hereditary disorders, within which both the structure and functionality of various ectoderm-derived tissues can be affected depending on the involved gene. Congenital hypotrichosis with juvenile macular dystrophy is one of the entities included in ED, which is associated with an alteration in the Case Presentation: We describe a 6-year-old patient with history of atopic dermatitis, amblyopia, and reduced vision acuity. Physical examination revealed hypotrichosis on the scalp with alopecia patches, microretrognathia, dental enamel abnormalities, dry skin, keratosis pilaris. Molecular analysis identified a homozygous variant in the Conclusion: We present the first Colombian case of clinical and molecular diagnosis of hypotrichosis with juvenile macular dystrophy associated with
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