Rudolf Happle

Summary

Affiliation: University Hospital
Country: Germany

Publications

  1. ncbi request reprint [How frequently does genetic mosaicism occur in the skin?]
    R Happle
    Klinik für Dermatologie und Venerologie, Universitatsklinikum Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 65:536-41. 2014
  2. doi request reprint Phacomatosis pigmentokeratotica is a "pseudodidymosis"
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 133:1923-5. 2013
  3. doi request reprint Nevus sebaceus is a mosaic RASopathy
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 133:597-600. 2013
  4. doi request reprint Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany
    Am J Med Genet A 158:1247-51. 2012
  5. doi request reprint Type 2 segmental manifestation of "blue rubber bleb nevus syndrome": a reappraisal of 5 case reports
    Rudolf Happle
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Eur J Dermatol 20:266-8. 2010
  6. doi request reprint Smoker's boils
    Rudolf Happle
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatology 222:282-4. 2011
  7. doi request reprint Superimposed linear psoriasis: a historical case revisited
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany
    J Dtsch Dermatol Ges 9:1027-8; discussion 1029. 2011
  8. doi request reprint Donor dominance cures CHILD nevus
    Arne König
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany
    Dermatology 220:340-5. 2010
  9. ncbi request reprint Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss
    Retno Danarti
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033, Marburg, Germany
    Eur J Dermatol 13:430-2. 2003
  10. doi request reprint The group of epidermal nevus syndromes Part I. Well defined phenotypes
    Rudolf Happle
    Department of Dermatology, University of Marburg, Marburg, Germany
    J Am Acad Dermatol 63:1-22; quiz 23-4. 2010

Collaborators

Detail Information

Publications44

  1. ncbi request reprint [How frequently does genetic mosaicism occur in the skin?]
    R Happle
    Klinik für Dermatologie und Venerologie, Universitatsklinikum Freiburg, Hauptstr 7, 79104, Freiburg, Deutschland
    Hautarzt 65:536-41. 2014
    ..Until recently, cutaneous mosaicism was considered a rare phenomenon. Its practical significance was considered minimal...
  2. doi request reprint Phacomatosis pigmentokeratotica is a "pseudodidymosis"
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 133:1923-5. 2013
    ..Both nevi originate from a single heterozygous HRAS mutation in a pluripotent progenitor cell. This new understanding has implications for other proposed examples of didymosis in humans. ..
  3. doi request reprint Nevus sebaceus is a mosaic RASopathy
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany
    J Invest Dermatol 133:597-600. 2013
    ..confirm this advancement with results obtained through whole-exome sequencing. Further molecular studies will almost certainly show that sebaceous and keratinocytic nevi are different disorders, although there is some clinical overlap...
  4. doi request reprint Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany
    Am J Med Genet A 158:1247-51. 2012
    ..failed to mention any associated extracutaneous cancer proneness, whereas Hornstein et al. had delineated the complete syndrome. For all of these reasons, the new term "Hornstein-Birt-Hogg-Dubé syndrome" appears to be appropriate...
  5. doi request reprint Type 2 segmental manifestation of "blue rubber bleb nevus syndrome": a reappraisal of 5 case reports
    Rudolf Happle
    Department of Dermatology, University Medical Center Freiburg, Hauptstr 7, 79104 Freiburg, Germany
    Eur J Dermatol 20:266-8. 2010
    ..Hence, "blue rubber bleb nevus syndrome" can be added to the list of autosomal dominant skin disorders that may sometimes be complicated by a type 2 segmental involvement...
  6. doi request reprint Smoker's boils
    Rudolf Happle
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    Dermatology 222:282-4. 2011
    ..In order to increase the awareness of this avoidable major cause of the disease and to facilitate the recognition of incipient disorder, we propose the more specific term 'smoker's boils' for HS lesions of patients who are smokers...
  7. doi request reprint Superimposed linear psoriasis: a historical case revisited
    Rudolf Happle
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany
    J Dtsch Dermatol Ges 9:1027-8; discussion 1029. 2011
    ..The linear manifestation most likely reflects the clonal outgrowth of a population of cells harboring a postzygotic mutation that increased the predisposition to psoriasis...
  8. doi request reprint Donor dominance cures CHILD nevus
    Arne König
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany
    Dermatology 220:340-5. 2010
    ..Patients suffer from an inflammatory nevus that covers large areas, predominantly of one side of the body, with a sharp midline demarcation. Treatment of CHILD nevus is notoriously difficult...
  9. ncbi request reprint Large congenital melanocytic nevi may reflect paradominant inheritance implying allelic loss
    Retno Danarti
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033, Marburg, Germany
    Eur J Dermatol 13:430-2. 2003
    ....
  10. doi request reprint The group of epidermal nevus syndromes Part I. Well defined phenotypes
    Rudolf Happle
    Department of Dermatology, University of Marburg, Marburg, Germany
    J Am Acad Dermatol 63:1-22; quiz 23-4. 2010
    ..From this overview, it is clear that a specific type of these disorders cannot be classified by the name "epidermal nevus syndrome" nor by the terms "organoid nevus syndrome" or "keratinocytic nevus syndrome."..
  11. ncbi request reprint Epidermal nevi
    Rudolf Happle
    Department of Dermatology, Faculty of Medicine, Phillips University of Marburg, Marburg, Germany
    Adv Dermatol 18:175-201. 2002
  12. ncbi request reprint Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth
    Retno Danarti
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Dermatology 214:130-2. 2007
    ..Klippel-Trenaunay syndrome is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted...
  13. ncbi request reprint Influence of climatic conditions on the irritant patch test with sodium lauryl sulphate
    Harald Loffler
    Department of Dermatology, Philipp University of Marburg, Germany
    Acta Derm Venereol 83:338-41. 2003
    ..For the first time, two formulae for adjusting TEWL values according to climatic conditions are presented. It is possible with these formulae to compare between a measured TEWL value and a calculated value...
  14. ncbi request reprint Fas-deficient C3.MRL-Tnfrsf6(lpr) mice and Fas ligand-deficient C3H/HeJ-Tnfsf6(gld) mice are relatively resistant to the induction of alopecia areata by grafting of alopecia areata-affected skin from C3H/HeJ mice
    Pia Freyschmidt-Paul
    Department of Dermatology, Philipp University, Marburg, Germany
    J Investig Dermatol Symp Proc 8:104-8. 2003
    ..The results suggest that the Fas/Fas ligand pathway plays an important pathogenetic role in alopecia areata...
  15. ncbi request reprint CHILD syndrome avant la lettre
    Mario Bittar
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35037 Marburg, Germany
    J Am Acad Dermatol 50:S34-7. 2004
    ..Moreover, Sachs presented in this article a comprehensive description of verruciform xanthoma, thus anticipating Shafer's "first report" of this histopathological phenomenon (1971) by almost 70 years...
  16. doi request reprint The group of epidermal nevus syndromes Part II. Less well defined phenotypes
    Rudolf Happle
    Department of Dermatology, University of Marburg, Marburg, Germany
    J Am Acad Dermatol 63:25-30; quiz 31-2. 2010
    ..These syndromes can thus far be regarded as being in limbo. Future clinical and molecular research may show which of these disorders can be added to the list of well defined nosologic entities...
  17. ncbi request reprint Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene
    Retno Danarti
    Department of Dermatology, Philipp University, Marburg, Germany
    J Am Acad Dermatol 49:492-8. 2003
    ..This would give rise to a homozygous cell clone, which becomes manifest along the lines of Blaschko later in life...
  18. ncbi request reprint Phacomatosis pigmentovascularis revisited and reclassified
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Arch Dermatol 141:385-8. 2005
    ....
  19. doi request reprint Nevus marginatus: a distinct type of epidermal nevus or merely a variant of nevus sebaceus?
    Christian Hafner
    Department of Dermatology, University of Regensburg, Regensburg, Germany
    Dermatology 216:236-8. 2008
    ..For this peculiar disorder, we propose the term 'nevus marginatus'. So far it is not clear whether nevus marginatus represents a distinct entity or merely an unusual clinical variant of nevus sebaceus...
  20. ncbi request reprint Speckled lentiginous nevus syndrome: report of a further case
    Claudia Vente
    Department of Dermatology, Georg August University, Gottingen, Germany
    Dermatology 209:228-9. 2004
    ..Speckled lentiginous nevus syndrome represents a mosaic phenotype. Most likely it originates from loss of heterozygosity occurring in a heterozygous embryo at an early developmental stage...
  21. doi request reprint Targeting epidermal lipids for treatment of Mendelian disorders of cornification
    Dimitra Kiritsi
    Department of Dermatology, Medical Center University of Freiburg, 79104 Freiburg, Germany
    Orphanet J Rare Dis 9:33. 2014
    ..The skin manifestations of the CHILD syndrome have been attributed to two major mechanisms: deficiency of cholesterol, probably influencing the proper corneocyte membrane formation, and toxic accumulation of aberrant steroid precursors...
  22. doi request reprint What is a capillary malformation?
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    J Am Acad Dermatol 59:1077-9. 2008
    ..Hence, I propose that we should use "capillary malformation" as an umbrella term and not as a name for a specific cutaneous entity...
  23. ncbi request reprint The venous nevus: a distinct vascular malformation suggesting mosaicism
    Sabrina Zietz
    Department of Dermatology, University of Regensburg, Regensburg, Germany
    Dermatology 216:31-6. 2008
    ..Venous malformations are common vascular anomalies which only occur sporadically...
  24. ncbi request reprint Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, D 35033 Marburg, Germany
    Eur J Dermatol 12:133-5. 2002
    ..The postulated new phenotype is tentatively categorized as a paradominant trait. Future clinical studies will probably confirm the existence of speckled lentiginous nevus syndrome as a distinct neurocutaneous phenotype...
  25. ncbi request reprint Dohi Memorial Lecture. New aspects of cutaneous mosaicism
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, D 35033 Marburg, Germany
    J Dermatol 29:681-92. 2002
    ..Such cases can be taken as examples of "natural gene therapy"...
  26. ncbi request reprint Allergy and irritation: an adverse association in patients with atopic eczema
    Harald Loffler
    Department of Dermatology, University of Marburg, Germany
    Acta Derm Venereol 83:328-31. 2003
    ..Hence, in sensitized atopic subjects the combined effect of aeroallergens and detergents may cause severe skin problems, and this may be relevant in daily practice...
  27. ncbi request reprint What is IFAP syndrome?
    Rudolf Happle
    Department of Dermatology, Deutschhausstrasse, Marburg, Germany
    Am J Med Genet A 124:328. 2004
  28. ncbi request reprint Gustav Schimmelpenning and the syndrome bearing his name
    Rudolf Happle
    Department of Dermatology, Philipp University, Marburg, Germany
    Dermatology 209:84-7. 2004
    ..163200 and no. 165630). The term 'Schimmelpenning syndrome' is both historically justified and practically sufficient to distinguish this phenotype from other epidermal nevus syndromes...
  29. ncbi request reprint A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement
    Arne König
    Department of Dermatology, Philipp University, Deutchhausstrasse 9, D 35033 Marburg, Germany
    J Am Acad Dermatol 46:594-6. 2002
    ..Apparently, the effect of random X-inactivation is responsible for different patterns of cutaneous involvement in female carriers of NSDHL mutations...
  30. ncbi request reprint Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles
    Helena Vidaurri-de la Cruz
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Dermatology 212:53-8. 2006
    ..So far, this skin disorder has been considered to represent one clinical entity...
  31. pmc Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination
    Dimitra Kiritsi
    Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany
    J Clin Invest 122:1742-6. 2012
    ..Since loss of kindlin-1 severely impairs keratinocyte proliferation, we predict that revertant cells have a selective advantage that allows their clonal expansion and, consequently, the improvement of the skin condition...
  32. ncbi request reprint Superimposed segmental manifestation of polygenic skin disorders
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    J Am Acad Dermatol 57:690-9. 2007
    ..On the other hand, the theory of isolated versus superimposed segmental manifestation may help to elucidate the origin of polygenic skin disorders at the molecular level...
  33. ncbi request reprint Linear Cowden nevus: a new distinct epidermal nevus
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Deutschhaus Str 9, 35033 Marburg, Germany
    Eur J Dermatol 17:133-6. 2007
    ..In conclusion, linear Cowden nevus, that may also be called "linear PTEN nevus", represents a distinct clinicogenetic entity...
  34. ncbi request reprint Trichotemnomania: obsessive-compulsive habit of cutting or shaving the hair
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    J Am Acad Dermatol 52:157-9. 2005
    ..Trichotemnomania is a distinct obsessive-compulsive disorder that should not be confused with trichotillomania. The condition should be taken into account when a supposed alopecia areata looks somewhat unusual...
  35. ncbi request reprint Trichilemmal cyst nevus: a new complex organoid epidermal nevus
    Iliana Tantcheva-Poor
    Department of Dermatology, University of Cologne, Cologne, Germany
    J Am Acad Dermatol 57:S72-7. 2007
    ..Consequently, we propose for this new organoid nevus the names "trichilemmal cyst nevus" or "nevus trichilemmocysticus."..
  36. doi request reprint Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis
    Andreas W Arnold
    Freiburg University Medical Center, Department of Dermatology, Hauptstrasse 7, 79104 Freiburg, Germany
    Eur J Dermatol 22:473-5. 2012
    ..We describe a third case of phacomatosis melanorosea and discuss the denotation of this neologism...
  37. ncbi request reprint Multiple eruptive dermatofibromas: a review of the literature
    Shiro Niiyama
    Department of Dermatology, Philipp University, Marburg, Germany
    Acta Derm Venereol 82:241-4. 2002
    ..This underscores the possibility of early diagnosis of immune-mediated diseases in patients with multiple eruptive dermatofibromas...
  38. ncbi request reprint Skin changes in geriatric nurses prior to training heralding a particular risk of hand dermatitis
    Harald Loffler
    Department of Dermatology, Philipp University Deuts chlausstr 9, 35033, Marburg, Germany
    Eur J Dermatol 12:452-4. 2002
    ..More education concerning the risk of irritant dermatitis in health care occupations is desirable, not only for the starting nurse but also for the employment offices...
  39. doi request reprint Mibelli revisited: a case of type 2 segmental porokeratosis from 1893
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    J Am Acad Dermatol 62:136-8. 2010
    ..Recognizing such cases of superimposed segmental involvement may help elucidate the molecular basis of PM...
  40. pmc A case of linear porokeratosis superimposed on disseminated superficial actinic porokeratosis
    Rebecca Löhrer
    Department of Dermatology, University of Cologne, Cologne, Germany
    Case Rep Dermatol 2:130-4. 2010
    ..Molecular analysis of cases of type 2 segmental involvement may help elucidate the genetic defect causing DSAP...
  41. doi request reprint Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Acta Derm Venereol 88:382-7. 2008
    ..The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated...
  42. ncbi request reprint Kerinokeratosis papulosa with a type 2 segmental manifestation
    Rudolf Happle
    Department of Dermatology, Phillipp University of Marburg, Deutschhausstrasse 9, 35033 Marburg, Germany
    J Am Acad Dermatol 50:S84-5. 2004
    ..This linear lesion may be best explained as a type 2 segmental manifestation of the disorder, which would imply that kerinokeratosis papulosa is inherited as an autosomal-dominant trait...
  43. ncbi request reprint Congenital triangular alopecia may be categorized as a paradominant trait
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 13:346-7. 2003
    ..The trait would be expressed only when postzygotic loss of the corresponding wildtype allele occurred in a early developmental stage. Future molecular research may show whether the concept of paradominant inheritance holds true...
  44. ncbi request reprint Alopecia areata: treatment of today and tomorrow
    Pia Freyschmidt-Paul
    Department of Dermatology, Philipp University, Marburg, Germany
    J Investig Dermatol Symp Proc 8:12-7. 2003
    ....