Genodermatoses include a variety of skin conditions due to underlying genetic mutations with and without associated systemic findings.
New gene mutations are being discovered rapidly and allow for more definitive diagnoses in many of these conditions; however, recognizing the salient features on physical examination allows for more directed genetic testing. Some genodermatoses will present at birth, such as epidermolysis bullosa with skin fragility or congenital ichthyoses with the presence of a collodion membrane. Other conditions manifest distinctive clinical findings in the neonatal period, as seen in the Blaschko linear vesicular and verrucous eruptions indicative of incontentia pigmenti.
Childhood onset is more common for conditions like tuberous sclerosis TS or neurofibromatosis when patients begin to demonstrate more noticeable clinical stigmata such as angiofibromas or neurofibromas, respectively. Still other genodermatoses can present later during adolescence or early adulthood, including Darier disease with keratotic and crusted papules and plaques and Hailey-Hailey disease familial benign chronic pemphigus with reticulated, eroded flexural plaques.
- ISBN 13: 9781841842516.
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Photosensitivity can be seen in several genodermatoses, including the telangiectatic patches of Bloom syndrome; the poikiloderma of Rothmund-Thomson syndrome; and the lentigines, sun damage, and early skin cancers seen in xeroderma pigmentosa. Subscribe Register Login. Your Name: optional.
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Atlas of Genodermatoses
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