1. A multistep approach to the diagnosis of rare genodermatoses
- Author
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Özge Aşkın, Güllü Gencebay, Yalçın Tüzün, Burhan Engin, and Tüzün, Yalçın
- Subjects
Male ,medicine.medical_specialty ,Birth Complications ,Physical examination ,Diagnostic accuracy ,Dermatology ,Cutaneous Manifestations ,Malignancy ,Clinical Presentation At Birth ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Rare Diseases ,0302 clinical medicine ,Genodermatoses ,medicine ,Humans ,Genetic Testing ,Family history ,Diagnostic Techniques and Procedures ,Skin ,Genetic testing ,030203 arthritis & rheumatology ,Skin manifestations ,medicine.diagnostic_test ,business.industry ,Skin Diseases, Genetic ,Diagnostic test ,Syndrome ,medicine.disease ,Molecular analysis ,Early Diagnosis ,Female ,business ,Algorithms - Abstract
WOS:000575673000002 PubMed: 32972599 Genodermatoses are heritable skin diseases that can cause significant morbidity and mortality. Most of them show characteristic cutaneous findings. Genodermatoses can be associated with extracutaneous system abnonnalities. Diagnosing hereditary skin disorders is still a challenging task due to their rarity and diversity, due to diseases evolving over many years, and the initial manifestations not always being diagnostic; therefore, ongoing evaluation and surveillance is often required to make the accurate diagnosis. The algorithm for the diagnosis depends on a combination of thorough clinical and family history clinical examination, laboratory findings, consultation of multiple medical specialists, and molecular analysis. Diagnostic testing targeted at differentiation of similar genodermatoses may be required. Recognition is crucial for the initiation of the treatment for skin manifestations and detection of other extracutaneous abnormalities, including malignancy. Diagnostic accuracy and molecular diabmosis may help in providing a template for ongoing management, testing, and education and prognostication for families of children with genodermatoses. (C) 2020 Elsevier Inc. All rights reserved.
- Published
- 2020
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