Mosaicism in human skin: understanding nevi, nevoid skin disorders, and cutaneous neoplasia
Gespeichert in:
| 1. Verfasser: | |
|---|---|
| Format: | Buch |
| Sprache: | English |
| Veröffentlicht: |
Heidelberg ; New York, NY ; Dordrecht ; London ; Berlin
Springer
2014
|
| Schlagworte: | |
| Online-Zugang: | Inhaltstext Inhaltsverzeichnis |
| Beschreibung: | Literaturangaben |
| Beschreibung: | XIII, 229 S. Ill. 26 cm |
| ISBN: | 9783642387647 3642387640 |
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Datensatz im Suchindex
| _version_ | 1809771509797879808 |
|---|---|
| adam_text |
1 INTRODUCTION 1
PART I THE MECHANISMS OF CUTANEOUS MOSAICISM
2 MOSAICISM AS A BIOLOGICAL CONCEPT 5
2.1 HISTORICAL BEGINNINGS 5
2.2 MOSAICISM IN PLANTS 6
2.3 MOSAICISM IN ANIMALS 7
2.4 MOSAICISM IN HUMAN SKIN 9
2.5 MOSAICISM VERSUS CHIMERISM 10
REFERENCES 11
3 TWO MAJOR CATEGORIES OF MOSAICISM 13
3.1 GENOMIC MOSAICISM 13
3.1.1 GENOMIC MOSAICISM OF AUTOSOMES 13
3.1.2 GENOMIC X-CHROMOSOME MOSAICISM
IN MALE PATIENTS 24
3.1.3 SUPERIMPOSED SEGMENTAL MANIFESTATION
OF POLYGENIC SKIN DISORDERS 24
3.2 EPIGENETIC MOSAICISM 26
3.2.1 EPIGENETIC MOSAICISM OF AUTOSOMAL GENES 26
3.2.2 EPIGENETIC MOSAICISM OF X CHROMOSOMES 27
REFERENCES 31
4 RELATIONSHIP BETWEEN HYPOMORPHIC ALLELES
AND MOSAICISM OF LETHAL MUTATIONS 39
REFERENCES 41
PART II THE PATTERNS OF CUTANEOUS MOSAICISM
5 SIX ARCHETYPICAL PATTERNS 45
5.1 LINES OF BLASCHKO 45
5.1.1 LINES OF BLASCHKO, NARROW BANDS 52
5.1.2 LINES OF BLASCHKO, BROAD BANDS 52
5.1.3 ANALOGY OF BLASCHKO'S LINES IN OTHER ORGANS. . 53
5.1.4 BLASCHKO'S LINES IN ANIMALS 54
5.1.5 ANALOGY OF BLASCHKO'S LINES IN THE MURINE BRAIN. . . 54
HTTP://D-NB.INFO/1034513591
X
5.2 CHECKERBOARD PATTERN 56
5.3 PHYLLOID PATTERN 57
5.4 LARGE PATCHES WITHOUT MIDLINE SEPARATION 57
5.5 LATERALIZATION PATTERN 57
5.6 SASH-LIKE PATTERN 58
REFERENCES 59
6 LESS WELL DEFINED OR SO FAR UNCLASSIFIABLE PATTERNS 63
6.1 THE PALLISTER-KILLIAN PATTERN 63
6.2 THE MESOTROPIC FACIAL PATTERN 64
REFERENCES 65
PART III MOSAIC SKIN DISORDERS
7 NEVI 69
7.1 THE THEORY OF LETHAL GENES
SURVIVING BY MOSAICISM 70
7.2 PIGMENTARY NEVI 70
7.2.1 MELANOCYTIC NEVI 70
7.2.2 OTHER NEVI REFLECTING PIGMENTARY MOSAICISM. . 74
7.3 EPIDERMAL NEVI 77
7.3.1 KERATINOCYTIC NEVI 78
7.3.2 ORGANOID EPIDERMAL NEVI 85
7.4 VASCULAR NEVI 92
7.4.1 CAPILLARY NEVI 92
7.4.2 VENOUS NEVI 97
7.5 CONNECTIVE TISSUE NEVI 98
7.5.1 COLLAGEN NEVI OF TUBEROUS SCLEROSIS 98
7.5.2 LINEAR COLLAGEN NEVUS 98
7.5.3 ELASTIN-RICH NEVUS 99
7.5.4 SEGMENTAL MANIFESTATION
OF EHLERS-DANLOS SYNDROMES 99
7.6 FATTY TISSUE NEVI 99
7.6.1 NEVUS LIPOMATOSUS SUPERFICIALIS 99
7.6.2 NEVUS PSILOLIPARUS 99
REFERENCES 100
8 DIDYMOTIC SKIN DISORDERS 109
8.1 ALLELIC DIDYMOSIS 109
8.1.1 CAPILLARY DIDYMOSIS 109
8.1.2 CUTIS TRICOLOR ILL
8.1.3 DIDYMOSIS IN EPIDERMOLYTIC ICHTHYOSIS OF BROCQ. . . ILL
8.1.4 DIDYMOSIS IN DARIER DISEASE ILL
8.2 THE THEORETICAL CONCEPT OF NONALLELIC DIDYMOSIS ILL
REFERENCES 113
9 OTHER BINARY GENODERMATOSES,
INCLUDING "PSEUDODIDYMOSIS" 115
9.1 PHACOMATOSIS PIGMENTOKERATOTICA: AN EXAMPLE
OF "PSEUDODIDYMOSIS" 115
9.2 PAIRED OCCURRENCE OF NEVUS SEBACEUS
AND MELORHEOSTOSIS 116
XI
9.3 PAIRED OCCURRENCE OF NEVUS SEBACEUS
AND APLASIA CUTIS CONGENITA 116
9.4 PAIRED OCCURRENCE OF NEVUS PSILOLIPARUS
AND APLASIA CUTIS CONGENITA 116
9.5 THE GROUP OF PHACOMATOSIS PIGMENTOVASCULARIS 116
9.5.1 PHACOMATOSIS CESIOFLAMMEA 116
9.5.2 PHACOMATOSIS SPILOROSEA 117
9.5.3 PHACOMATOSIS MELANOROSEA 117
9.5.4 PHACOMATOSIS CESIOMARMORATA 118
9.5.5 "PHACOMATOSIS CESIOANEMICA" 118
REFERENCES 119
10 MOSAIC MANIFESTATION OF AUTOSOMAL
DOMINANT SKIN DISORDERS 121
10.1 HEREDITARY MULTIPLE SKIN TUMORS 122
10.1.1 TRICHOEPITHELIOMA 122
10.1.2 TRICHODISCOMA 123
10.1.3 PILOMATRICOMA 123
10.1.4 BASALOID FOLLICULAR HAMARTOMA 123
10.1.5 FIBROFOLLICULOMA: A HALLMARK OF HORNSTEIN-
KNICKENBERG SYNDROME (ALIAS BIRT-HOGG-DUBE
SYNDROME)
123
10.1.6 SYRINGOMA 125
10.1.7 SPIRADENOMA 125
10.1.8 ECCRINE POROMA 125
10.1.9 CYLINDROMATOSIS 125
10.1.10 GLOMANGIOMATOSIS 126
10.1.11 BLUE RUBBER BLEB ANGIOMATOSIS
("BLUE RUBBER BLEB NEVUS SYNDROME") 127
10.1.12 LIPOMATOSIS 128
10.1.13 NEUROFIBROMATOSIS 1 128
10.1.14 NEUROFIBROMATOSIS 2 133
10.1.15 SCHWANNOMATOSIS 133
10.1.16 LEGIUS SYNDROME 134
10.1.17 LEIOMYOMATOSIS 134
10.1.18 GORLIN SYNDROME 135
10.1.19 HEREDITARY NONSYNDROMIC MULTIPLE
BASAL CELL CARCINOMA 136
10.1.20 PTEN HAMARTOMA SYNDROME
(COWDEN DISEASE INCLUDED) 136
10.1.21 CUTANEOUS MASTOCYTOSIS 138
10.2 DISORDERS OF KERATINIZATION 139
10.2.1 EPIDERMOLYTIC ICHTHYOSIS OF BROCQ 139
10.2.2 DARIER DISEASE 139
10.2.3 HAILEY-HAILEY DISEASE 139
10.2.4 DOWLING-DEGOS DISEASE, INCLUDING
THE GALLI-GALLI VARIANT 141
10.2.5 ACANTHOSIS NIGRICANS 141
10.2.6 KID SYNDROME 142
10.2.7 AUTOSOMAL DOMINANT DYSKERATOSIS CONGENITA. . . 142
XII
10.2.8 PACHYONYCHIA CONGENITA
OF THE JADASSOHN-LEWANDOWSKY TYPE 143
10.2.9 DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS. . . 143
10.2.10 PLAQUE-TYPE POROKERATOSIS OF MIBELLI 144
10.2.11 POROKERATOSIS PALMARIS, PLANTARIS ET
DISSEMINATA 145
10.2.12 TYPE 2 SEGMENTAL MANIFESTATION
IN CASES OF UNCLASSIFIABLE POROKERATOSIS 145
10.2.13 COSTELLO SYNDROME 145
10.2.14 ACROKERATOELASTOIDOSIS 146
10.3 DISORDERS OF CONNECTIVE TISSUE OR BONES 146
10.3.1 TUBEROUS SCLEROSIS 146
10.3.2 BUSCHKE-OLLENDORFF SYNDROME 149
10.3.3 EHLERS-DANLOS SYNDROMES 150
10.3.4 MARFAN SYNDROME 151
10.3.5 ALBRIGHT'S HEREDITARY OSTEODYSTROPHY 151
10.3.6 HEREDITARY OSTEOMATOSIS CUTIS 152
10.3.7 ZIMMERMANN-LABAND SYNDROME 154
10.3.8 BRACHMANN-DE LANGE SYNDROME
(CORNELIA DE LANGE SYNDROME) 155
10.4 VASCULAR DISORDERS 156
10.4.1 HEREDITARY HEMORRHAGIC TELANGIECTASIA
(OSLER-RENDU-WEBER SYNDROME) 156
10.4.2 RHODOID NEVUS SYNDROME ("CAPILLARY
MALFORMATION-ARTERIOVENOUS MALFORMATION"). 156
10.5 BLISTERING SKIN DISORDERS 158
10.5.1 SELF-LIMITED DYSTROPHIC
EPIDERMOLYSIS BULLOSA (TRANSIENT BULLOUS
DERMOLYSIS OF
THE NEWBORN) 158
10.5.2 TRANSIENT SUPERFICIAL ACANTHOLYSIS ARRANGED
ALONG BLASCHKO'S LINES IN A NEWBORN 158
REFERENCES 159
11 REVERTANT MOSAICISM 177
11.1 REVERTANT MOSAICISM IN AUTOSOMAL DOMINANT
SKIN DISORDERS 177
11.2 REVERTANT MOSAICISM IN AUTOSOMAL RECESSIVE
SKIN DISORDERS 177
REFERENCES 181
12 NEVOID SKIN DISORDERS 183
12.1 CUTANEOUS LESIONS REFLECTING FUNCTIONAL
X-CHROMOSOME MOSAICISM 183
12.1.1 INCONTINENTIA PIGMENTI 184
12.1.2 FOCAL DERMAL HYPOPLASIA 184
12.1.3 CONRADI-HTINERMANN-HAPPLE SYNDROME 185
12.1.4 MIDAS SYNDROME 186
12.1.5 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 186
12.1.6 CHRIST-SIEMENS-TOURAINE SYNDROME 187
XIII
12.1.7 X-LINKED DYSKERATOSIS CONGENITA 187
12.1.8 MENKES SYNDROME 188
12.1.9 IFAP SYNDROME 188
12.1.10 AICARDI SYNDROME 188
12.1.11 RETICULATE PIGMENTARY DISORDER OF
PARTINGTON 189
12.1.12 X-LINKED ALBINISM-DEAFNESS SYNDROME 189
12.1.13 X-LINKED DOMINANT HYPERTRICHOSIS 191
12.2 CONGENITAL AUTOSOMAL DISORDERS
REPRESENTING NON-NEVI 191
12.2.1 BENIGN SKIN TUMORS REFLECTING LETHAL
AUTOSOMAL MUTATIONS SURVIVING BY MOSAICISM. . . 191
12.2.2 HEMIHYPERPLASIA-MULTIPLE LIPOMATA
SYNDROME: A NEVOID DISORDER
OF UNKNOWN ORIGIN 193
12.2.3 OTHER AUTOSOMAL NON-NEVI 193
12.3 NEVOID ARRANGEMENT OF ACQUIRED SKIN DISORDERS 194
12.3.1 LICHEN STRIATUS 194
12.3.2 "BLASCHKITIS": NO ENTITY, BUT EITHER A VARIANT
OF LICHEN STRIATUS OR AN UMBRELLA TERM
INCLUDING THE LINEAR MANIFESTATION OF VARIOUS
ACQUIRED INFLAMMATORY SKIN DISORDERS 195
12.3.3 LICHEN AUREUS 195
12.3.4 LINEAR GROVER DISEASE 196
12.3.5 LINEAR JUVENILE XANTHOGRANULOMA 196
12.3.6 LINEAR ATROPHODERMA OF MOULIN 196
12.3.7 SUPERIMPOSED SEGMENTAL MANIFESTATION
OF COMMON POLYGENIC SKIN DISORDERS 197
REFERENCES 211
13 A NOTE ON NEOPLASTIC SKIN LESIONS 221
REFERENCES 221
INDEX 223 |
| any_adam_object | 1 |
| author | Happle, Rudolf 1938- |
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| dewey-full | 616.5 |
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| dewey-ones | 616 - Diseases |
| dewey-raw | 616.5 |
| dewey-search | 616.5 |
| dewey-sort | 3616.5 |
| dewey-tens | 610 - Medicine and health |
| discipline | Medizin |
| format | Book |
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| id | DE-604.BV042547210 |
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| indexdate | 2024-09-10T01:43:25Z |
| institution | BVB |
| isbn | 9783642387647 3642387640 |
| language | English |
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| physical | XIII, 229 S. Ill. 26 cm |
| publishDate | 2014 |
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| publisher | Springer |
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| spelling | Happle, Rudolf 1938- Verfasser (DE-588)112749348 aut Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia Rudolf Happle Heidelberg ; New York, NY ; Dordrecht ; London ; Berlin Springer 2014 XIII, 229 S. Ill. 26 cm txt rdacontent n rdamedia nc rdacarrier Literaturangaben Pigmentdermatose (DE-588)4247375-5 gnd rswk-swf Hautkrankheit (DE-588)4023852-0 gnd rswk-swf Variegation (DE-588)4342728-5 gnd rswk-swf Hautkrankheit (DE-588)4023852-0 s Variegation (DE-588)4342728-5 s DE-604 Pigmentdermatose (DE-588)4247375-5 s 1\p DE-604 X:MVB text/html http://deposit.dnb.de/cgi-bin/dokserv?id=4327455&prov=M&dok_var=1&dok_ext=htm Inhaltstext DNB Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027981162&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis 1\p cgwrk 20201028 DE-101 https://d-nb.info/provenance/plan#cgwrk |
| spellingShingle | Happle, Rudolf 1938- Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia Pigmentdermatose (DE-588)4247375-5 gnd Hautkrankheit (DE-588)4023852-0 gnd Variegation (DE-588)4342728-5 gnd |
| subject_GND | (DE-588)4247375-5 (DE-588)4023852-0 (DE-588)4342728-5 |
| title | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia |
| title_auth | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia |
| title_exact_search | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia |
| title_full | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia Rudolf Happle |
| title_fullStr | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia Rudolf Happle |
| title_full_unstemmed | Mosaicism in human skin understanding nevi, nevoid skin disorders, and cutaneous neoplasia Rudolf Happle |
| title_short | Mosaicism in human skin |
| title_sort | mosaicism in human skin understanding nevi nevoid skin disorders and cutaneous neoplasia |
| title_sub | understanding nevi, nevoid skin disorders, and cutaneous neoplasia |
| topic | Pigmentdermatose (DE-588)4247375-5 gnd Hautkrankheit (DE-588)4023852-0 gnd Variegation (DE-588)4342728-5 gnd |
| topic_facet | Pigmentdermatose Hautkrankheit Variegation |
| url | http://deposit.dnb.de/cgi-bin/dokserv?id=4327455&prov=M&dok_var=1&dok_ext=htm http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=027981162&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
| work_keys_str_mv | AT happlerudolf mosaicisminhumanskinunderstandingnevinevoidskindisordersandcutaneousneoplasia |