The group of epidermal nevus syndromes Part I. Well defined phenotypes.

[proteus syndrome]

The epidermal nevus syndromes represent a group of distinct disorders that can be distinguished by the type of associated epidermal nevus and by the criterion of presence or absence of heritability . Well defined syndromes characterized by organoid epidermal nevi include Schimmelpenning syndrome , phacomatosis pigmentokeratotica , nevus comedonicus syndrome , angora hair nevus syndrome , and Becker nevus syndrome . The molecular basis of these disorders has so far not been identified . By contrast , the group of syndromes characterized by keratinocytic nevi comprises three phenotypes with a known molecular etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects ) syndrome , type 2 segmental Cowden disease , and fibroblast growth factor receptor 3 epidermal nevus syndrome (GarcÃa-Hafner-Happle syndrome ), whereas Proteus syndrome is still of unknown origin . From this overview , it is clear that a specific type of these disorders can not be classified by the name "epidermal nevus syndrome " nor by the terms "organoid nevus syndrome " or "keratinocytic nevus syndrome ."After completing this learning activity , participants should be able to distinguish nine different epidermal nevus syndromes by their characteristic features , understand the practical significance of avoiding terms like "epidermal nevus syndrome " or "keratinocytic nevus syndrome " to define any specific entity within this group of disorders , and differentiate between nonhereditary traits and those bearing a genetic risk because of either Mendelian or non-Mendelian inheritance .

Diseases
Validation

Diseases presenting "limb defects" symptom

child syndrome

holt-oram syndrome

kallmann syndrome

proteus syndrome

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