Results 71 to 80 of about 9,426 (154)
Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
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Italian Journal of Pediatrics, 2022 Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra +7 more
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Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs
Veterinary Sciences, 2018 A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs.
Lisa Graziano +2 more
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JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
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Epidermal Nevi and Epidermal Naevus Syndromes
JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini +2 more
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Ichthyosis associated with rickets in two Indian children
Indian Journal of Dermatology, 2013 We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari +3 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
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Anais Brasileiros de Dermatologia, 2011 A hiperceratose epidermolítica é uma forma de ictiose geralmente resistente a tratamentos tópicos. Relata-se um caso de paciente feminina , em acompanhamento na dermatologia desde 1978, com diagnóstico de hiperceratose epidermolítica.
Priscila Wolf Nassif +4 more
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Animal Genetics, Volume 55, Issue 5, Page 725-732, October 2024.Abstract Ichthyoses comprise a large heterogeneous group of skin disorders, characterized by generalized scaly and hyperkeratotic skin. We investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth.
Sarah Kiener +4 more
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A Family with Palmar and Plantar Hyperkeratosis: A Quiz
Acta Dermato-Venereologica, 2020 is missing (Quiz)
Hazem A. Juratli +5 more
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