ArticleDermatopathology (Basel, Switzerland)2026
Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases.
Article in Dermatopathology (Basel, Switzerland), 2026. 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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1 citing paper in PubMed.
- Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins.Dermatopathology (Basel, Switzerland) · 2026Article
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11 authors.
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Abstract
backgroundInherited ichthyoses are a heterogeneous group of disorders of cornification caused by mutations in genes encoding epidermal proteins. Clinically, patients with ichthyosis present with erythema, scaling, and occasionally blistering; some subtypes are syndromic. Accurate and timely diagnosis is essential for appropriate management and genetic counseling.
objectivesDiagnosis of ichthyosis typically relies on a combination of clinical features, histopathological and ultrastructural findings, immunohistochemistry, and molecular genetic testing. Dermatopathology can be particularly valuable in three diagnostic scenarios: (i) when the clinical diagnosis of ichthyosis is evident, but the specific subtype remains unclear; (ii) when differential diagnoses such as inflammatory dermatoses need to be excluded; and (iii) when molecular testing is unavailable or yields variants of uncertain significance. However, definitive classification according to current nomenclature requires molecular confirmation.
methodsDespite being a routine diagnostic tool in dermatology, histopathological criteria for ichthyoses remain ill-defined and diagnostically challenging. In this retrospective study, we systematically assessed histological features in 66 patients with confirmed ichthyosis.
resultsOur analysis revealed six distinct histological patterns. Based on these, we propose a pattern-based diagnostic algorithm to support the histological classification of ichthyosis subtypes. LIMITATIONS: Although some rare subtypes were underrepresented, this cohort represents the largest and most heterogeneous group of molecularly confirmed ichthyosis cases analyzed histologically to date.
conclusionsOur findings highlight the diagnostic value of skin biopsies in inherited ichthyoses. The delineation of characteristic histological patterns and the development of a diagnostic algorithm may facilitate more accurate subtype identification, particularly in settings where genetic testing is limited or inconclusive.
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