Index A Becker nevus and Becker nevus syndrome , Acantholysis, transient superfi cial , 158–159 14, 15, 86, 88–90 Acanthosis nigricans , 19, 20, 141–142, 145, 146 BFH. See Basaloid follicular hamartoma (BFH) Acne nevus of Munro , 91 Binary genodermatoses , 23, 115–118 Acne vulgaris , 26, 200–201, 203 aplasia cutis congenita Acrokeratoelastoidosis , 146 and nevus psiloliparus , 116, 117 AHO. See Albright’s hereditary osteodystrophy (AHO) and nevus sebaceous , 116 Aicardi syndrome , 188–189 nevus sebaceus and melorheostosis , 116 AKT1 mutation , 79, 83, 137 phacomatosis pigmentokeratotica , 115–116 Albinism-deafness syndrome, X-linked , 189–191 phacomatosis pigmentovascularis , 116–118 Albinism, X-linked oculocutaneous , 54 Birt-Hogg-Dubé syndrome. See Hornstein-Knickenberg Albright’s hereditary osteodystrophy (AHO) , 19, 20, syndrome 151–154 Blaschkitis , 49, 195, 205, 208 Allelic didymosis , 23–24, 109–111 Blaschko, Alfred , 9, 45, 47–51 capillary didymosis , 109–111 Blaschko dermatitis , 195 cutis tricolor , 110–111 Blaschko’s lines , 45–59, 63–64, 74 Darier disease , 111, 112 analogous patterns in other organs , 53–58 epidermolytic ichthyosis of Brocq , 111 in animals , 51, 54–56 Amelogenesis imperfecta , 53 atypical lines , 63–64 Anemic halo. See Rhodoid nevus brindle trait , 51, 54, 55 Angiokeratoma circumscriptum , 96 in broad bands , 46, 52–53 Angioma serpiginosum , 96–97 in chimeric mice , 51, 54 Angora hair nevus , 15, 86, 88–89 dwarf zebu, brindle trait , 54, 55 Apert syndrome , 91 embryonic cells , 49, 50 Archetypical patterns , 45–59 in epidermal nevi , 50, 52 Arteriovenous fi stulas , 20, 138, 156 on head and neck , 47, 50 Art nouveau , 57 intraoral lesions , 52 Atopic dermatitis , 26, 194, 195, 197–199 murine brain , 54, 56 ATP7A gene , 188 in narrow bands , 52 ATP2C1 mutation. See Hailey-Hailey disease nevus lines , 45, 47, 49, 50 Atrophoderma, linear. See Linear atrophoderma scalp involvement , 52, 53 Atypical Blaschko lines , 63–64 Bloom syndrome , 22, 24 Autosomal dominant skin disorders , 121–160, 177 Blue rubber bleb angiomatosis , 19, 20, 127–128, 194 Blue rubber bleb nevus. See Non-nevi Bone disorders , 146–157 B Brachmann-de Lange syndrome , 155–157 Back mutation , 24, 178 Brindle trait , 26, 28, 51, 54, 55 Bannayan-Riley-Ruvalcaba variant. See PTEN Bullous pemphigoid , 26, 205 hamartoma syndrome Buschke-Ollendorff syndrome , 19, 20, 149–150 Basal cell carcinioma , 19, 115, 135, 136, 194, 221 hereditary multiple nonsyndromic , 19, 136 infundibulocystic ( see Basaloid follicular hamartoma) C Basal cell nevus. See Non-nevi Capillary didymosis , 109–111 Basaloid follicular hamartoma (BFH) , Capillary malformation 19, 123, 192, 193 ambiguous name , 157 Bazex-Dupré-Christol syndrome , 30 capillary nevi , 92–97 R. Happle, Mosaicism in Human Skin, 223 DOI 10.1007/978-3-642-38765-4, © Springer-Verlag Berlin Heidelberg 2014 224 Index Salmon patch ( see Non-nevi) D umbrella term , 92 Darier disease , 16, 19, 20, 24, 85, 111–112, 139–140, Capillary malformation-arteriovenous malformation. 177, 196 See Rhodoid nevus syndrome Deletion, intragenic , 15 Capillary nevi Delleman syndrome , 14, 15 angiokeratoma circumscriptum , 96 Demethylation , 26 angioma serpiginosum , 96–97 Dermatomal pattern , 49, 57, 209 cutis marmorata telangiectatica congenita , 95 Dermatomyositis , 26, 195, 203–205 livedo reticularis congenita , 95–96 Desmoplakin mutation , 160 nevus anemicus , 97 Dichotomous types of mosaicism , 18 nevus fl ammeus , 92–93 Dichromasia , 54 nevus roseus , 93–94 Didymosis (twin spotting) nevus vascularis mixtus , 97 defi nition , 21–22 rhodoid nevus , 94–95 didymotic skin disorders , 109–113 Carcinoma, squamous cell , 221 Dowling-Degos disease , 141 Castori syndrome , 15, 86 Drosophila , 7–9, 23 Cataract, sectorial , 54 Drug eruption Cellular blue nevus , 72 common , 26, 208 Checkerboard pattern , 46, 56–57 fi xed , 26, 208 Cherry angiomas , 26, 210–211 lichenoid , 209 CHILD nevus , 57, 78, 79, 83–84 DSAP. See Porokeratosis CHILD syndrome , 25, 39–41, 46, 47, 58, 83 Dwarf zebu , 54, 55 Chimerism , 10–11, 54, 57 Dyskeratosis congenita Chondrodysplasia punctata, X-linked dominant. autosomal dominant type , 19, 99 See Conradi-Hünermann-Happle syndrome X-linked type , 142, 187–188 Christ-Siemens-Touraine syndrome , 187 Dysplastic nevi , 70 Chromosomal loss or gain , 24 CK syndrome , 40, 41 CLOVES syndrome , 15, 78, 80–81 E Coat patterns in mice , 29 EBP mutation , 39, 185 Cobblestone nevus , 21, 147 Eccrine nevus of the Castori type. See Epidermal nevi Cobb syndrome , 93 Eccrine poroma , 125 COL7A1 mutation , 159, 160 Ectodermal dysplasia of Zonana , 27, 39–40, 184 Collagen nevus Ehlers-Danlos syndromes , 16, 19, 20, 99, 150–151 in Ehlers-Danlos syndrome III , 150–151 Elastin-rich nevus , 99 linear , 98–99 Elastoma, juvenile , 20, 99, 149 Collagenoma , 20 Elephantiasis neuromatosa , 20 Collagen type XVII , 24 Enamel defects, linear. See Focal dermal hypoplasia Columnar mosaicism of the murine brain , 54, 56 Encephalocraniocutaneous lipomatosis , 15, 99, 116 Comedones, linear epidermolytic. See Epidermal nevi Epidermal nevi, keratinocytic types Compound heterozygosity , 22 CHILD nevus , 79, 83–84 Connective tissue/bone disorders , 146–157 eccrine nevus of the Castori type , 90–91 Connective tissue nevi , 20, 98–99 epidermolytic comedones, linear , 88, 89 Conradi-Hünermann-Happle syndrome , 39, 40, 50, 54, epidermolytic epidermal nevus , 83 185–186 hard, verrucous type , 80–81 Cornelia de Lange syndrome , 155–157 infl ammatory linear verrucous epidermal nevus Costello syndrome , 145–146 (ILVEN) , 26, 83–84 Cowden nevus, linear. See Linear PTEN nevus linear PTEN nevus , 79, 81–82 Cowden variant. See PTEN hamartoma syndrome nevus corniculatus , 84, 85 Crossing-over, postzygotic , 24 nevus epidermicus verrucosus ( see NEVADA Cutis marmorata telangiectatica congenita , 15, 95 syndrome) Cutis tricolor nevus kerinokeratoticus , 84, 85 Blaschko-linear type , 24, 111 nevus marginatus , 87–88 parvimaculata , 24, 111 Proteus type , 81–83 Ruggieri-Happle type , 24, 46, 58, 59, SASKIA nevus , 81 110–111 seborrheic keratoses , 78, 80 CXORF5 gene , 186 Epidermal nevi, organoid types Cylindromatosis , 125–126 angora hair nevus , 88, 89 Cytogenetic abnormalities, lethal , 14 Becker nevus and Becker nevus syndrome , 86, 88–90 Index 225 eccrine nevus, Castori type , 90, 91 Genomic mosaicism , 13–26 epidermal nevus syndromes , 86, 91 Giant melanocytic nevus , 46, 57–58 linear epidermolytic comedones , 88–89 Gilmore’s hypothesis , 51 Munro’s acne nevus , 91 GJB2 mutation , 86, 90, 142 nevus comedonicus , 15, 87–88 Glomangioma nevus corniculatus , 84–85 congenital patch-like , 20 nevus kerinokeratoticus , 84, 85 congenital plaque-like , 126 nevus sebaceous , 87–88 giant , 20, 126 nevus trichilemmocysticus , 15, 91 Glomangiomatosis , 19–21, 126–127 porokeratotic eccrine nevus , 89–90 Glomulin mutation. See Glomangiomatosis Schauder syndrome , 88, 89 Glomuvenous malformation. See Glomangioma Epidermal nevus syndromes , 78–84, 86, 91 GNAQ mutation , 23, 113 Epidermolysis bullosa GNAS mutations , 75, 151, 153 Dowling-Meara type , 177 Goltz syndrome. See Focal dermal hypoplasia neonatal miliaria rubra-like lesions , 159 Gonadal mosaicism , 16, 17 non-Herlitz junctional type , 177, 179 Gorlin syndrome , 19, 135–136 recessive dystrophic type , 177, 180 Graft- versus -host disease , 26, 206 self-limited dystrophic type , 158–159 Granuloma annulare , 26, 207 simplex superfi cialis , 160 Grouped congenital hypertrophy of the retinal pigment Epidermolytic comedones. See Epidermal nevi epithelium (CHRPE) , 54, 55 Epidermolytic epidermal nevus. See Epidermal nevi Grover disease , 196 Epidermolytic ichthyosis of Brocq , 19, 20, 24, 83, 85, 88, 111, 139, 177 Epigenetic mosaicism , 26–31, 50 H Epimutation , 26 Hailey-Hailey disease , 19, 20, 85, 139–140 Epitopes of skin , 25 Halo, anemic. See Rhodoid nevus Erythema multiforme , 26, 208 Happle-Tinschert syndrome , 123, 192–194 Escape from X inactivation , 30 Hemangiomatosis, unilateral. See Blue rubber bleb Exanthem of childhood, lateralized , 26, 208–210 angiomatosis Hemihyperplasia-multiple lipomata syndrome , 128, 193 Hemizygous cell clone , 16 F Hereditary hemorrhagic telangiectasia , 19, 156, 158 Fatty tissue nevi , 99–100 Heterozygosity , 221 FGFR3 epidermal nevus syndrome , 15, 40, 78–80 compound , 22 FGFR2 mutation , 91 loss of , 14, 22, 137 FGFR3 mutation , 78, 81 Homologous recombination , 22 Fibrofolliculoma , 123–124 Homozygous cell clone , 16 Fibroma, perifollicular. See Fibrofolliculoma Hornstein-Knickenberg syndrome , 19, 20, 123–124 Fibrous hamartoma of infancy , 21, 148 HRAS mutation , 71, 72, 113, 145, 146 Fixed drug eruption , 26, 208, 210 Hypermelanosis Focal dermal hypoplasia linear and whorled nevoid ( see Pigmentary nevi) enamel defects, linear , 53 mosaic , 14, 56 linear skin lesions , 50, 184, 203 phylloid (see Pigmentary nevi) lyonization , 53, 54, 184–185 Hypertrichosis, nevoid , 189 occurrence in males , 24 Hypertrichosis, X-linked dominant , 191 striation of bones, of , 53, 185 Hypertrophy of the retinal pigment epithelium, Folliculin mutation. See Hornstein-Knickenberg congenital , 54, 55 syndrome Hypohidrosis , 187, 189 Folliculocystic and collagen hamartoma , 21, 148, 149 Hypomelanosis of Ito. See Pigmentary mosaicism of Four-mutation model , 14, 221 the Ito type Fumarate hydratase gene. See Leiomyomatosis Hypomorphic alleles , 39–41 Functional X-chromosome mosaicism , 28–30, 183–191 Hystrix-like epidermal nevus. See NEVADA syndrome G I Galli-Galli disease , 141 Ichthyosis follicularis,