R Happle

Summary

Affiliation: Philipps University
Country: Germany

Publications

  1. ncbi request reprint Nonsyndromic type of hereditary multiple basal cell carcinoma
    R Happle
    Department of Dermatology, Philipp University, Marburg, Germany
    Am J Med Genet 95:161-3. 2000
  2. ncbi request reprint A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity
    R Happle
    Philipp University of Marburg, Germany
    Arch Dermatol 133:1505-9. 1997
  3. ncbi request reprint Nevus psiloliparus: a distinct fatty tissue nevus
    R Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    Dermatology 197:6-10. 1998
  4. ncbi request reprint Palmar papillomatous lesions reminiscent of epidermal nevus in a case of focal dermal hypoplasia: a nosological consideration
    P H van der Steen
    Department of Dermatology, University of Marburg, Germany
    Dermatology 193:147-8. 1996
  5. ncbi request reprint Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
    H Traupe
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Med Genet 85:324-9. 1999
  6. doi request reprint Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)
    A W Arnold
    Department of Dermatology, Freiburg University Medical Center, 79104 Freiburg, Germany
    Br J Dermatol 166:1309-13. 2012
  7. ncbi request reprint MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome
    R Happle
    Department of Dermatology, University of Marburg, Germany
    Am J Med Genet 47:710-3. 1993
  8. ncbi request reprint Phorbol-myristate-acetate, but not interleukin-1 beta or insulin-like growth factor-I, regulates protein kinase C isoenzymes in human dermal papilla cells
    W Eicheler
    Department of Dermatology, Philipp University, Marburg, Germany
    Acta Derm Venereol 77:361-4. 1997
  9. ncbi request reprint 5 alpha-reductase activity in the human hair follicle concentrates in the dermal papilla
    W Eicheler
    Philipp University, Department of Dermatology, Marburg, Germany
    Arch Dermatol Res 290:126-32. 1998
  10. ncbi request reprint Cancer proneness of linear porokeratosis may be explained by allelic loss
    R Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    Dermatology 195:20-5. 1997

Collaborators

Detail Information

Publications50

  1. ncbi request reprint Nonsyndromic type of hereditary multiple basal cell carcinoma
    R Happle
    Department of Dermatology, Philipp University, Marburg, Germany
    Am J Med Genet 95:161-3. 2000
    ..The three cases of unilateral arrangement would be difficult to explain without the assumption that multiple nonsyndromic superficial BCC may occur as a distinct mendelian trait...
  2. ncbi request reprint A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity
    R Happle
    Philipp University of Marburg, Germany
    Arch Dermatol 133:1505-9. 1997
    ..Heterozygosity for the mutation results in severity corresponding to that in the nonsegmental phenotype; loss of heterozygosity for the same allele causes markedly more severe involvement...
  3. ncbi request reprint Nevus psiloliparus: a distinct fatty tissue nevus
    R Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    Dermatology 197:6-10. 1998
    ..This disorder has so far not been recognized as a cutaneous entity...
  4. ncbi request reprint Palmar papillomatous lesions reminiscent of epidermal nevus in a case of focal dermal hypoplasia: a nosological consideration
    P H van der Steen
    Department of Dermatology, University of Marburg, Germany
    Dermatology 193:147-8. 1996
    ..Although the mechanism of lyonization may give rise to true epidermal nevi such as CHILD nevus, we prefer to classify the present skin lesion as a nevoid disorder and not as an epidermal nevus...
  5. ncbi request reprint Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko
    H Traupe
    Department of Dermatology, University of Munster, Munster, Germany
    Am J Med Genet 85:324-9. 1999
    ..Most likely, the Happle syndrome gene is not lethal for hemizygously affected males but rather similar to the example of epilepsy with mental retardation limited to females, the gene actually spares male gene carriers...
  6. doi request reprint Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)
    A W Arnold
    Department of Dermatology, Freiburg University Medical Center, 79104 Freiburg, Germany
    Br J Dermatol 166:1309-13. 2012
    ..There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations in males...
  7. ncbi request reprint MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome
    R Happle
    Department of Dermatology, University of Marburg, Germany
    Am J Med Genet 47:710-3. 1993
    ..3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome...
  8. ncbi request reprint Phorbol-myristate-acetate, but not interleukin-1 beta or insulin-like growth factor-I, regulates protein kinase C isoenzymes in human dermal papilla cells
    W Eicheler
    Department of Dermatology, Philipp University, Marburg, Germany
    Acta Derm Venereol 77:361-4. 1997
    ....
  9. ncbi request reprint 5 alpha-reductase activity in the human hair follicle concentrates in the dermal papilla
    W Eicheler
    Philipp University, Department of Dermatology, Marburg, Germany
    Arch Dermatol Res 290:126-32. 1998
    ..These results indicate that the androgen response of hair follicles depends on a differentiated intrafollicular androgen metabolism and that the dermal papilla might be a primary target in this process...
  10. ncbi request reprint Cancer proneness of linear porokeratosis may be explained by allelic loss
    R Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    Dermatology 195:20-5. 1997
    ..On the other hand, a significant mechanism in the origin of many forms of cancer is loss of heterozygosity or allelic loss...
  11. ncbi request reprint Phylloid hypomelanosis is closely related to mosaic trisomy 13
    R Happle
    Department of Dermatology, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 10:511-2. 2000
    ..Future case reports may help to delineate further the significance of this relationship...
  12. ncbi request reprint An X-linked gene involved in androgenetic alopecia: a lesson to be learned from adrenoleukodystrophy
    A Konig
    Department of Dermatology, Philipp University, Marburg, Germany
    Dermatology 200:213-8. 2000
    ..Affected men show various endocrine disorders. Moreover, disturbances of hair growth are frequently mentioned in reports on ALD/AMN...
  13. doi request reprint Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement
    A W Arnold
    Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany aarnold uhbs ch
    Dermatology 224:331-9. 2012
    ..We review the differential diagnosis of acral localized spotty dyspigmentation and conclude that acromelanosis albo-punctata may represent a distinct entity...
  14. ncbi request reprint Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis
    A Konig
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D 35033 Marburg, Germany
    Eur J Dermatol 10:590-2. 2000
    ..We hypothesize that the underlying gene locus is particularly prone to mitotic recombination or other postzygotic mutational events resulting in loss of the corresponding wild-type allele...
  15. ncbi request reprint Type 2 segmental Darier disease
    R Happle
    Department of Dermatology, University of Marburg, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 9:449-51. 1999
    ..Future studies may show whether the concept of type 2 segmental Darier disease can be confirmed at the molecular level...
  16. ncbi request reprint Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome
    R Happle
    Department of Dermatology, Philipp University, Marburg, Germany
    Arch Dermatol 133:77-80. 1997
    ..This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored...
  17. ncbi request reprint Cigarette smoking as a triggering factor of hidradenitis suppurativa
    A Konig
    Department of Dermatology, Philipp University, Marburg, Germany
    Dermatology 198:261-4. 1999
    ..Hidradenitis suppurativa is a chronic inflammatory skin disease involving the axillary, inguinal and anogenital regions and sometimes, in addition, the submammary or sacral areas. The etiology of this condition is unknown...
  18. ncbi request reprint Pronounced perifollicular lymphocytic infiltrates in alopecia areata are associated with poor treatment response to diphencyprone
    P Freyschmidt-Paul
    Department of Dermatology, Philipp University, Deutschhaus Strasse 9, 35033 Marburg, Germany
    Eur J Dermatol 9:111-4. 1999
    ..We conclude that non-responders to topical sensitizers tend to have rather pronounced inflammatory reactions with dense perifollicular lymphocytic infiltrates...
  19. ncbi request reprint [Alopecia areata. Clinical aspects, pathogenesis and rational therapy of a T-cell-induced autoimmune disease]
    P Freyschmidt-Paul
    Klinik für Dermatologie und Allergologie, Philipps Universitat Marburg
    Hautarzt 54:713-22. 2003
    ..However, it is time-consuming and in some cases ineffective, making it desirable to develop new, more specific forms of treatment...
  20. ncbi request reprint Changes in skin physiology during bath PUVA therapy
    H Loffler
    Department of Dermatology, Philipp University of Marburg, Germany
    Br J Dermatol 147:105-9. 2002
    ..Frequent bathing leads to a skin barrier damage with various changes in physiological skin parameters. Conversely, ultraviolet (UV) irradiation may improve the impaired skin barrier by reducing inflammatory reactions...
  21. ncbi request reprint [Patterns on the skin. New aspects of their embryologic and genetic causes]
    R Happle
    Klinik für Dermatologie und Allergologie, Klinikum der Philipps Universität, Marburg
    Hautarzt 55:960-1, 964-8. 2004
    ..For example, when dermatologists examine a patient with xeroderma pigmentosum they should pay particular attention to such areas of revertant mosaicism...
  22. ncbi request reprint [Radiation-induced cutaneous hamartoma in a patient with Cowden syndrome. Clinical evidence for heterozygosity]
    R Happle
    Dermatologische Klinik der Universität Marburg, Deutschhausstrasse 9, 35033 Marburg
    Hautarzt 53:47-9. 2002
    ..The X-ray treatment would have induced LOH in many cells, giving rise to either homo- or hemizygosity for the Cowden mutation...
  23. ncbi request reprint Irritant patch testing with sodium lauryl sulphate: interrelation between concentration and exposure time
    J Aramaki
    Department of Dermatology, Nippon Medical School, Japan
    Br J Dermatol 145:704-8. 2001
    ..We present formulae by which the outcome of SLS patch testing at various SLS concentrations ranging from 0.125% to 2% and any exposure time between 3 and 24 h can be estimated...
  24. ncbi request reprint Which bioengineering assay is appropriate for irritant patch testing with sodium lauryl sulfate?
    J Aramaki
    Department of Dermatology, Nippon Medical School, Japan
    Contact Dermatitis 45:286-90. 2001
    ....
  25. ncbi request reprint Elements of the interleukin-1 signaling system show hair cycle-dependent gene expression in murine skin
    R Hoffmann
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D 35033, Marburg, Germany
    Eur J Dermatol 8:475-7. 1998
    ..Therefore, our findings are consistent with the concept that IL-1alpha, IL-1beta, IL-1-RI and IL-1-RII are involved in the control of catagen development...
  26. ncbi request reprint Profile of irritant patch testing with detergents: sodium lauryl sulfate, sodium laureth sulfate and alkyl polyglucoside
    H Loffler
    Department of Dermatology, University of Marburg, Germany
    Contact Dermatitis 48:26-32. 2003
    ..These results demonstrate the improvement in reduction of skin irritation achieved by development of novel detergents...
  27. ncbi request reprint CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene
    C A Kim
    Clinical Unit, Instituto da Criança, USP São Paulo, Sao Paulo, Brazil
    Dermatology 211:155-8. 2005
    ..The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis...
  28. ncbi request reprint The functional relevance of the type 1 cytokines IFN-gamma and IL-2 in alopecia areata of C3H/HeJ mice
    P Freyschmidt-Paul
    Department of Dermatology, Philipp University Marburg, Marburg, Germany
    J Investig Dermatol Symp Proc 10:282-3. 2005
  29. ncbi request reprint Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata)
    A Torrelo
    Department of Dermatology, Hospital del Nino Jesus, Madrid, Spain
    J Eur Acad Dermatol Venereol 20:308-10. 2006
    ..More recently, the term phacomatosis cesiomarmorata (cesius = blue) has been proposed. We believe phacomatosis cesiomarmorata is another example of twin spotting or didymosis...
  30. ncbi request reprint Acrodermatitis acidaemia secondary to 'overtreatment' and protein deficiency
    G F Hoffmann
    University Childrens Hospital Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 29:173-4. 2006
  31. ncbi request reprint What is the biological basis of pattern formation of skin lesions?
    C M Chuong
    Department of Pathology, Keck School of Medicine, University of Southern Califronia, Los Angeles, USA
    Exp Dermatol 15:547-64. 2006
    ..With this, we hope to encourage more systematic interdisciplinary research efforts geared at unraveling the many unsolved, yet utterly fascinating mysteries of dermatological pattern formation. In short: never a dull pattern!..
  32. ncbi request reprint Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas
    J Bouthors
    Br J Dermatol 155:225-6. 2006
  33. ncbi request reprint [What is a hamartoma? The confusion goes on...]
    R Happle
    Ann Dermatol Venereol 134:75. 2007
  34. ncbi request reprint Type 2 segmental Cowden disease vs. Proteus syndrome
    R Happle
    Br J Dermatol 156:1089-90. 2007
  35. doi request reprint Phacomatosis spilorosea associated with lymphoedema
    H F Jordaan
    Br J Dermatol 159:489-91. 2008
  36. ncbi request reprint [Becker nevus syndrome]
    A Alfaro
    Servicio de Dermatología Hospital del Niño Jesús Madrid España
    Actas Dermosifiliogr 98:624-6. 2007
    ..We present 4 cases of Becker nevus syndrome in which Becker nevus was associated with ipsilateral breast hypoplasia and, less consistently, other abnormalities...
  37. ncbi request reprint Nevus spilus maculosus vs. partial unilateral lentiginosis
    R Happle
    J Eur Acad Dermatol Venereol 21:713. 2007
  38. ncbi request reprint A further case of non-ILVEN
    R Happle
    Clin Exp Dermatol 29:98-9. 2004
  39. ncbi request reprint Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome
    A Konig
    Department of Dermatology, Philipp University, Marburg, Germany
    Am J Med Genet 90:339-46. 2000
    ..They provide animal models for the study of CHILD syndrome, a further human condition due to mutations in a gene of the cholesterol synthesis pathway...
  40. ncbi request reprint Influence of estrogens on the androgen metabolism in different subunits of human hair follicles
    S Niiyama
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D-35033 Marburg, Germany
    Eur J Dermatol 11:195-8. 2001
    ....
  41. ncbi request reprint Cutaneous leiomyomatosis with type 2 segmental involvement
    G Tsoitis
    Department of Dermatology, Ed. Herriot Hospital, 69437 Lyon cx 03, France
    J Dermatol 28:251-5. 2001
    ....
  42. ncbi request reprint [Unilateral atrophoderma following Blaschko's lines: Blaschkolinear morphoea or Moulin's linear atrophoderma?]
    L Martin
    Ann Dermatol Venereol 129:431-2. 2002
  43. ncbi request reprint HID and KID syndromes are associated with the same connexin 26 mutation
    M van Geel
    Department of Dermatology, University Hospital Nijmegen, The Netherlands
    Br J Dermatol 146:938-42. 2002
    ..These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related...
  44. ncbi request reprint Differences of skin irritation between Japanese and European women
    J Aramaki
    Department of Dermatology, Nippon Medical School, Japan
    Br J Dermatol 146:1052-6. 2002
    ..After using cosmetics, Japanese women frequently complain about sensitive, stinging skin. We wondered whether Japanese women's skin is more sensitive than that of Caucasians...
  45. ncbi request reprint 17alpha-estradiol induces aromatase activity in intact human anagen hair follicles ex vivo
    R Hoffmann
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D 35033 Marburg, Germany
    Exp Dermatol 11:376-80. 2002
    ....
  46. ncbi request reprint Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis
    A Torrelo
    Department of Dermatology, Hospital del Nino Jesus, Menendez Pelayo 65, 28009 Madrid, Spain
    Br J Dermatol 148:342-5. 2003
    ..We found only one previous similar case in a textbook, and we support the classification of this condition as phacomatosis pigmentovascularis type V...
  47. ncbi request reprint Phylloid pattern of pigmentary disturbance in a case of complex mosaicism
    T Ribeiro Noce
    Department of Genetics, , , , , Brazil
    Am J Med Genet 98:145-7. 2001
    ....
  48. ncbi request reprint Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets
    M Zutt
    Department of Dermatology, University of Gottingen, Gottingen, Germany
    Dermatology 207:72-6. 2003
    ....
  49. ncbi request reprint Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome
    R Happle
    Am J Med Genet A 122:279; author reply 280. 2003
  50. ncbi request reprint Elastase-inhibiting activity in scaling skin disorders
    A Chang
    Department of Dermatology, University Hospital, Nijmegen, The Netherlands
    Acta Derm Venereol 70:147-51. 1990
    ..EIA proved to be an indicator for abnormal keratinization with a marked expression when a mixed infiltrate is present in the skin...