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  1. Book ; Online ; E-Book: Mosaicism in human skin

    Happle, Rudolf / Torrelo, Antonio

    understanding nevi, nevoid skin disorders, and cutaneous neoplasia

    2023  

    Abstract: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing ... ...

    Author's details Rudolf Happle, Antonio Torrelo
    Abstract This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes.^

    The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling.^
    Keywords Dermatology ; Pediatrics ; Medical genetics ; Neurology ; Ophthalmology ; Skin Neoplasms ; Skin Diseases ; Nevus ; Mosaicism
    Language English
    Size 1 Online-Ressource (xiii, 243 Seiten), Illustrationen
    Edition Second edition
    Publisher Springer
    Publishing place Cham
    Publishing country Switzerland
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT021687839
    ISBN 978-3-030-89937-0 ; 9783030899363 ; 3-030-89937-3 ; 3030899365
    DOI 10.1007/978-3-030-89937-0
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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  2. Article ; Online: Pioneers in Dermatology and Venereology: An interview with Professor Rudolf Happle.

    Happle, Rudolf

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2024  Volume 38, Issue 5, Page(s) 798–800

    MeSH term(s) Dermatology/history ; Venereology/history ; History, 20th Century ; History, 21st Century ; Humans
    Language English
    Publishing date 2024-04-25
    Publishing country England
    Document type Historical Article ; Biography ; Interview ; Portrait ; Journal Article
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.19965
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  3. Article ; Online: Neues über Nävi und nävoide Hauterkrankungen.

    Happle, Rudolf

    Dermatologie (Heidelberg, Germany)

    2023  Volume 74, Issue 5, Page(s) 310–315

    Abstract: Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can ... ...

    Title translation Update on nevi and nevoid skin disorders.
    Abstract Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Unlike common sebaceous nevus (HRAS or KRAS mutations), cerebriform sebaceous nevus is caused by a postzygotic lethal FGFR2 mutation. Cutis marmorata telangiectatica congenita and reticular capillary nevus have previously been considered one single entity. Today, their dichotomy is proven at the molecular level. It is important to be aware of the new port-wine nevus of the AKT3 type because this anomaly may constitute a cutaneous marker of severe congenital brain defects. The newly described transient abdominal telangiectasia in newborns can easily be mistaken as a capillary nevus, but represents an innocuous neonatal phenomenon that spontaneously fades away within the first three months.
    MeSH term(s) Female ; Male ; Infant, Newborn ; Humans ; Skin Diseases ; Nevus/diagnosis ; Port-Wine Stain ; Telangiectasis/diagnosis ; Livedo Reticularis
    Language German
    Publishing date 2023-03-17
    Publishing country Germany
    Document type English Abstract ; Journal Article ; Review
    ISSN 2731-7013
    ISSN (online) 2731-7013
    DOI 10.1007/s00105-023-05135-4
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  4. Article ; Online: Autosomal dominant genodermatoses in adults being heralded by superimposed skin lesions in children.

    Happle, Rudolf

    American journal of medical genetics. Part C, Seminars in medical genetics

    2023  Volume 193, Issue 2, Page(s) 109–115

    Abstract: In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, ... ...

    Abstract In autosomal dominant skin disorders, pronounced mosaic involvement may sometimes occur in the neonate, originating in a heterozygous embryo from early loss of heterozygosity, probably during the first week after fertilization. In biallelic phenotypes, such overlaying mosaic involvement may coexist with disseminated mosaicism, for example, in neurofibromatosis or tuberous sclerosis. In other phenotypes, however, classical nonsegmental involvement tends to appear much later, which is why the superimposed mosaic is a heralding feature. In Brooke-Spiegler syndrome (eccrine cylindromatosis), a large pedigree documented a 5-year-old boy with multiple, congenital small eccrine cylindromas along the lines of Blaschko. Disseminated cylindromas were absent because they usually appear in adulthood. ̶ In Hornstein-Knickenberg syndrome, an affected woman had an 8-year-old son with a nevus comedonicus-like lesion exemplifying a forerunner of the syndrome. ("Birt-Hogg-Dubé syndrome" represents a nonsyndromic type of hereditary perifollicular fibromas.) In glomangiomatosis, neonatal superimposed mosaicism is a heralding feature because disseminated lesions appear during puberty or adulthood. Linear porokeratosis is a harbinger of disseminated porokeratosis that develops 30 or 40 years later. ̶ Cases of superimposed linear Darier disease were forerunners of nonsegmental manifestation. ̶ In a case of Hailey-Hailey disease, neonatal mosaic lesions heralded nonsegmental involvement that began 22 years later.
    MeSH term(s) Humans ; Child ; Carcinoma, Adenoid Cystic ; Mosaicism ; Inheritance Patterns ; Phenotype
    Language English
    Publishing date 2023-06-08
    Publishing country United States
    Document type Case Reports ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.32055
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  5. Book: Mosaicism in human skin

    Happle, Rudolf

    understanding nevi, nevoid skin disorders, and cutaneous neoplasia

    2014  

    Author's details Rudolf Happle
    Keywords Hautkrankheit ; Variegation
    Subject Mosaikfleckung ; Fleckenmuster ; Genetisches Mosaik ; Chromosomales Mosaik ; Dermatose ; Haut ; Hauterkrankung ; Hautkrankheiten
    Language English
    Size XIII, 229 S. : Ill., graph. Darst.
    Publisher Springer
    Publishing place Berlin u.a.
    Publishing country Germany
    Document type Book
    HBZ-ID HT018128403
    ISBN 978-3-642-38764-7 ; 3-642-38764-0 ; 9783642387654 ; 3642387659
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2014 A 141 available for loan (reading room) Lesesaal EG

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  6. Article ; Online: An unusual Case of Segmental Hailey-Hailey Disease Developing in a 1.5-Year-Old Child: A Proposed Diagnosis.

    Happle, Rudolf

    Indian journal of dermatology

    2022  Volume 67, Issue 1, Page(s) 70–71

    Language English
    Publishing date 2022-04-19
    Publishing country India
    Document type Journal Article
    ZDB-ID 416069-1
    ISSN 1998-3611 ; 0019-5154
    ISSN (online) 1998-3611
    ISSN 0019-5154
    DOI 10.4103/ijd.ijd_152_21
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  7. Article ; Online: White lentiginosis of Grosshans: which mode of inheritance?

    Happle, R

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2021  Volume 36, Issue 4, Page(s) e290–e291

    MeSH term(s) Diagnosis, Differential ; Humans ; Lentigo/genetics
    Language English
    Publishing date 2021-12-27
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.17878
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  8. Article: Progressive Osseous Heteroplasia is not an Autosomal Dominant Trait but Reflects Superimposed Mosaicism in Different

    Happle, Rudolf

    Indian dermatology online journal

    2021  Volume 12, Issue 2, Page(s) 316–318

    Abstract: Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized by severe segmental ossification involving the skin and deep connective tissues including the muscles. So far, the disorder is generally described as an ... ...

    Abstract Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized by severe segmental ossification involving the skin and deep connective tissues including the muscles. So far, the disorder is generally described as an autosomal dominant trait. By contrast, the following arguments are in favor of the alternative concept that POH should rather be taken as a non-specific segmental manifestation of different
    Language English
    Publishing date 2021-03-02
    Publishing country India
    Document type Journal Article
    ZDB-ID 2585814-2
    ISSN 2249-5673 ; 2229-5178
    ISSN (online) 2249-5673
    ISSN 2229-5178
    DOI 10.4103/idoj.IDOJ_584_20
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  9. Article ; Online: Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?

    Happle, Rudolf

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 4, Page(s) 1304–1306

    MeSH term(s) Epigenesis, Genetic/genetics ; Genetic Association Studies ; Humans ; Infant ; Male ; Microphthalmia-Associated Transcription Factor/genetics ; Mosaicism ; SOXE Transcription Factors/genetics ; Snail Family Transcription Factors/genetics ; Stem Cell Factor/genetics ; Waardenburg Syndrome/diagnosis ; Waardenburg Syndrome/genetics ; Waardenburg Syndrome/pathology
    Chemical Substances KITLG protein, human ; MITF protein, human ; Microphthalmia-Associated Transcription Factor ; SNAI2 protein, human ; SOX10 protein, human ; SOXE Transcription Factors ; Snail Family Transcription Factors ; Stem Cell Factor
    Language English
    Publishing date 2021-01-13
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62075
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  10. Article ; Online: Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

    Happle, R

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2020  Volume 34, Issue 4, Page(s) 885–887

    Abstract: ... cancer proneness. By contrast, Arthur R. Birt, Georgina R. Hogg and W. James Dubé from Winnipeg, Manitoba ...

    Abstract The disorder that is presently called 'Birt-Hogg-Dubé syndrome' was in reality delineated in 1975 by Otto P. Hornstein and Monika Knickenberg from Erlangen (Germany) who emphasized that the occurrence of multiple 'perifollicular fibromas' represented a distinct autosomal dominant trait heralding extracutaneous cancer proneness. By contrast, Arthur R. Birt, Georgina R. Hogg and W. James Dubé from Winnipeg, Manitoba, Canada, claimed in 1977 that they had discovered 'a previously unrecognized hereditary pilar hamartoma' for which they proposed the name 'fibrofolliculoma', to be distinguished from the perifollicular fibromas as reported by Hornstein and Knickenberg. Today, many authors believe that 'fibrofolliculoma' is identical with 'perifollicular fibroma', but for the purpose of the present article this question can be left open. More importantly, the Canadian authors did not mention any association with extracutaneous cancer proneness within the large family examined in Winnipeg, nor when discussing the report from Erlangen, which means that they have neither described nor redescribed the syndrome that presently bears their names. Hence, the autosomal dominant disorder of multiple perifollicular fibromas heralding proclivity to extracutaneous cancer should be called after the original authors, Hornstein-Knickenberg syndrome.
    MeSH term(s) Birt-Hogg-Dube Syndrome/classification ; Birt-Hogg-Dube Syndrome/genetics ; Birt-Hogg-Dube Syndrome/history ; Germany ; History, 20th Century ; History, 21st Century ; Humans ; Terminology as Topic
    Language English
    Publishing date 2020-02-09
    Publishing country England
    Document type Historical Article ; Journal Article ; Portrait ; Review
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.16190
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