Genodermatosis for dermatology resident in proper points from standard textbook of dermatology
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genodermatoses
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genodermatoses overview dermatology inherited skin disorders DermNet
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Genodermatoses is a resident-level umbrella topic rather than one entity. A useful textbook-based framework is to organize it by the affected cutaneous structure and then add syndromes with systemic risk.
- Disorders of keratinization and cornification - ichthyoses, palmoplantar keratodermas, Darier disease
- Epidermal adhesion and blistering disorders - epidermolysis bullosa, Hailey-Hailey disease
- Ectodermal and appendageal disorders - ectodermal dysplasias, hair and nail syndromes
- Connective-tissue and elastic-fiber disorders - pseudoxanthoma elasticum, cutis laxa, Ehlers-Danlos syndromes
- Neurocutaneous syndromes - neurofibromatosis, tuberous sclerosis, incontinentia pigmenti, Sturge-Weber syndrome
- DNA-repair, pigmentary and photosensitivity syndromes - xeroderma pigmentosum, albinism, dyskeratosis congenita
- Hamartoma and cancer-predisposition syndromes - Cowden, Birt-Hogg-Dubé, Muir-Torre, basal-cell nevus syndrome
- Diagnostic approach, genetic counseling, testing, prenatal diagnosis and multidisciplinary surveillance
At the bedside, prioritize: age at onset, family pedigree and inheritance pattern, morphology, extracutaneous findings, histology when useful, molecular confirmation, and tumor or organ surveillance. The core dermatology references identified include Dermatology, 5th ed. and Fitzpatrick's Dermatology.
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Which section should I develop into detailed, exam-ready resident notes first?
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