Results 41 to 50 of about 238,615 (114)
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
wiley +1 more source
Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa
, 2020 British Journal of Dermatology, Volume 182, Issue 3, Page 574-592, March 2020.
C. Has +12 more
wiley +1 more source
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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Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma [PDF]
, 2019 Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
Wilson, N. J. +5 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
wiley +1 more source
, 2007 Ichthyosis includes a group of hereditary disorders affecting the process of corneogenesis, characterised by scaling of the skin with or without epidermal proliferation or dermal inflammation.
Emmanuel Bensignor +3 more
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Systematized linear epidermolytic hyperkeratosis [PDF]
, 2014 A 5-year-old boy presented with widespread asymptomatic hyperpigmented verrucous plaques since 3 months of age. The lesions were distributed in a linear manner along Blaschko's lines on trunk and extremities and were accentuated in flexures and around ...
Kumar, Piyush +3 more
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Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma [PDF]
, 2016 Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.
Fernandez, Martin +3 more
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Congenital Non‐Epidermolytic Ichthyosis in Two Littermate Mixed‐Breed Yorkshire Terriers
Author Contributions: C. Lorente-Méndez: conceptualization, supervision, and writing. S.Peña: acquisition of data, and writing. A. Cerezo: supervision andwritingCongenital non-epidermolytic ichthyosis was diagnosed in two littermate mixed-breed Yorkshire
Cerezo, A. +2 more
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, 2015 Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants.
McGrath, J A +5 more
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