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Nevi

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Mosaicism in Human Skin

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Abstract

Mosaic skin disorders can be divided into three major groups: (1) nevi; (2) nevoid skin disorders that do not fulfill the criteria of true nevi; and (3) benign or malignant neoplastic skin lesions. According to present knowledge, nevi are visible, circumscribed, long-lasting lesions of the skin or the neighboring mucosa, reflecting mosaicism. With the exception of melanocytic nevi, they do not show neoplastic growth. They never show malignant neoplasia. (Obviously, some nevi may show secondary malignant growth, but such tumors do no longer represent nevi.) Most nevi reflect the action of a lethal gene that can only survive in an admixture with wild-type cells. There are, however, many important exceptions from this rule, such as the nonlethal postzygotic mutations causing the epidermal nevus of the epidermolytic type. Pigmentary nevi: This group includes melanocytic nevi and other pigmentary lesions reflecting mosaicism. Common small melanocytic nevi represent a polygenic trait. Molecular analysis has revealed postzygotic allelic loss involving various genes such as BRAF, NRAS, BRCA1, MC1R, IRF4, or BAP1, thus corroborating the concept of mosaicism. Acquired small melanocytic nevi represent a continuous trait including “atypical” melanocytic nevi (formerly called “dysplastic nevi”) and Spitz nevi. The number of predisposing molecular events may be low or rather high. By way of exception, all of these small nevi may show a segmental arrangement. Large or giant melanocytic nevi are most often caused by mosaic NRAS mutations, and rarely by BRAF variants, but in some cases none of these genes have shown mutations. Papular nevus spilus is an entity that can clearly be distinguished from macular nevus spilus. Both types are arranged in a flag-like pattern. The linear lentiginous nevus is characterized by complete absence of any hypo- or hyperpigmented background. Nevus cesius (segmental dermal melanocytosis) has also been called nevus fuscucoeruleus, or “aberrant Mongolian spot” which is an obsolete name. Linear hypermelanosis in broad bands is a characteristic feature of McCune-Albright syndrome. The linear lesions of “hypomelanosis of Ito” are no nosological entity but merely a cutaneous marker of many different states of mosaicism. The same is true for so-called linear and whorled nevoid hypermelanosis and for phylloid hypermelanosis, whereas phylloid hypomelanosis represents a distinct entity reflecting a mosaic trisomy (or tetrasomy) 13q. Epidermal nevi can be divided into two large groups, keratinocytic nevi and organoid nevi. Most of the keratinocytic nevi have today been elucidated at the molecular level. Types of so far unknown etiology include inflammatory linear verrucous epidermal nevus, nevus corniculatus, nevus kerinokeratoticus, and the hystrix-like epidermal nevus of NEVADA syndrome. Keratinocytic nevus syndromes with a known molecular basis include Proteus syndrome, CLOVES syndrome, superimposed mosaic PTEN hamartoma syndrome, and CHILD syndrome. In the group of organoid epithelial nevi, the linear follicular mucinous nevus was described in 2013. Organoid epidermal nevus syndromes with a known molecular cause comprise Schimmelpenning syndrome (including phacomatosis spilosebacea) and the “porokeratotic eccrine nevus syndrome” representing a mosaic manifestation of KID syndrome. Organoid nevus syndromes of unknown etiology include angora hair nevus syndrome (Schauder syndrome) and Castori syndrome. The acne nevus of Munro reflects a postzygotic FGFR2 mutation and thus represents a mosaic manifestation of Apert syndrome. In the group of vascular nevi, the frequently used name “capillary malformation” is an umbrella term being unsuitable to denote any of the different capillary nevi such as nevus flammeus, nevus roseus, rhodoid nevus, cutis marmorata telangiectatica congenita, reticular capillary nevus, angiokeratoma circumscriptum, segmentally arranged angioma serpiginosum, and nevus anemicus. Facial nevi flammei are definitely not arranged according to the trigeminal dermatomes. Nevus roseus is a lateralized birthmark characterized by its pale-pink color. The rhodoid nevus is a hallmark of two autosomal dominant traits, rhodoid nevus syndrome 1 (including both “capillary malformation-arteriovenous malformation” and “capillary malformation without arteriovenous malformation” (OMIM 608354)), being caused by RASA1 mutations, and rhodoid nevus syndrome 2 being caused by EPHB4 mutations. Rhodoid nevi are lighter than nevus flammeus but darker than nevus roseus. They are often surrounded by an anemic halo. Cutis marmorata telangiectatica congenita (including Van Lohuizen syndrome) should be distinguished from reticular capillary nevus (including “macrocephaly-capillary malformation syndrome”). The venous nevi represent a group of different disorders. Large venous nevi occur sporadically and are arranged in a segmental pattern with a strict midline separation. Small venous nevi occur as an autosomal dominant trait being caused by TEK mutations. The venous nevus of the Servelle-Martorell type represents a segmentally arranged, huge phlebectasia with hyperplasia of the involved limb. Connective tissue nevi are often noted in patients with tuberous sclerosis in the form of large collagen nevi that are described under various names such as shagreen patch, forehead patch, cobblestone nevus, or fibrous hamartoma of infancy. All of these lesions represent superimposed mosaic manifestations of the disorder. The linear collagen nevus that has also been described under the name “papulolinear collagenoma” follows the system of Blaschko’s lines. Multiple, disseminated, small elastin-rich nevi are a characteristic feature of Buschke-Ollendorff syndrome, whereas large segmental lesions (“juvenile elastoma”) represent superimposed mosaicism. Within the group of autosomal dominant Ehlers-Danlos syndromes, examples of both simple segmental and superimposed mosaicism have been documented. In fatty tissue nevi, two different types of such nevi can be distinguished. Nevus lipomatosus superficialis is a well-known disorder that tends to be arranged on the trunk in a linear pattern. Involvement of the scalp is extremely rare. By contrast, nevus psiloliparus is a skin lesion consisting of a flat and hairless lesion involving the scalp. In the past it has often been confused with nevus sebaceus. Nevus psiloliparus is a hallmark of encephalocraniocutaneous lipomatosis, a sporadically occurring multisystem birth defect caused by mutations in FGFR1.

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  1. Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany

    Rudolf Happle

  2. Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain

    Antonio Torrelo

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Happle, R., Torrelo, A. (2023). Nevi. In: Mosaicism in Human Skin. Springer, Cham. https://doi.org/10.1007/978-3-030-89937-0_7

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