R Happle

Summary

Affiliation: Philipps University
Country: Germany

Publications

  1. 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
  2. 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
  3. ncbi request reprint Superimposed segmental manifestation of both rare and common cutaneous disorders: a new paradigm
    R Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Actas Dermosifiliogr 100:77-85. 2009
  4. doi request reprint Speckled lentiginous naevus: which of the two disorders do you mean?
    R Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Clin Exp Dermatol 34:133-5. 2009
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications121 found, 100 shown here

  1. 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
  2. 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
    ....
  3. ncbi request reprint Superimposed segmental manifestation of both rare and common cutaneous disorders: a new paradigm
    R Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Actas Dermosifiliogr 100:77-85. 2009
    ..In the near future, the new paradigm of superimposed segmental manifestation may hopefully help elucidate the molecular basis of both monogenic and polygenic skin disorders...
  4. doi request reprint Speckled lentiginous naevus: which of the two disorders do you mean?
    R Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Clin Exp Dermatol 34:133-5. 2009
    ..The propensity to develop Spitz naevi appears to be the same in both types of speckled lentiginous naevus, whereas development of malignant melanoma has been reported far more commonly in naevus spilus maculosus...
  5. 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...
  6. 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...
  7. 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...
  8. 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."..
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. ncbi request reprint Nevus roseus: a distinct vascular birthmark
    Rudolf Happle
    University of Marburg, Deutschhausstr 9, D 35033 Marburg, Germany
    Eur J Dermatol 15:231-4. 2005
    ..For obvious reasons these terms are not suitable to designate any specific type of vascular birthmark such as nevus roseus...
  14. ncbi request reprint Nevus psiloliparus: report of two nonsyndromic cases
    Rudolf Happle
    Department of Dermatology Philipp University of Marburg Deutschhausstrasse 9 D 35033 Marburg Germany
    Eur J Dermatol 14:314-6. 2004
    ..When clinicians and dermatohistopathologists have become familiar with this new entity, they will most likely recognize it as a nonsyndromic skin disorder more often than as a cutaneous sign of encephalocraniocutaneous lipomatosis...
  15. 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...
  16. ncbi request reprint X-chromosome inactivation: role in skin disease expression
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    Acta Paediatr Suppl 95:16-23. 2006
    ..Like many X-linked diseases, Fabry disease should neither be called recessive nor dominant, because these dichotomous terms are obscured by the mechanism of X inactivation...
  17. 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...
  18. 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...
  19. ncbi request reprint Treatment with an anti-CD44v10-specific antibody inhibits the onset of alopecia areata in C3H/HeJ mice
    P Freyschmidt-Paul
    Department of Dermatology and the Institute of Medical Biometry and Epidemiology, Philipp University, Marburg, Germany
    J Invest Dermatol 115:653-7. 2000
    ..This might be accomplished by an anti-CD44v10-triggered impairment of immune cell homing (e.g., CD8+ T cells), resulting in a decrease of their number in target tissues...
  20. ncbi request reprint Current and potential agents for the treatment of alopecia areata
    P Freyschmidt-Paul
    Department of Dermatology, Philipp University, Marburg, Germany
    Curr Pharm Des 7:213-30. 2001
    ....
  21. 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...
  22. ncbi request reprint Treatment of alopecia areata in C3H/HeJ mice with the topical immunosuppressant FK506 (Tacrolimus)
    P Freyschmidt-Paul
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 11:405-9. 2001
    ..We conclude that topical treatment with FK506 is able to induce hair regrowth in AA of C3H/HeJ mice, most likely by suppressing the T cell mediated immune response...
  23. 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...
  24. 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...
  25. 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...
  26. 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"...
  27. 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...
  28. ncbi request reprint Murine auricular transepidermal water loss -- a novel approach for evaluating irritant skin reaction in mice
    H Loffler
    Department of Dermatology, Philipp University, Marburg, Germany
    Clin Exp Dermatol 26:196-200. 2001
    ..However, in experimental irritant contact dermatitis, the epidermal barrier disruption, that represents a predominant effect of irritants, cannot be assayed by this..
  29. ncbi request reprint Current understanding of androgenetic alopecia. Part II: clinical aspects and treatment
    R Hoffmann
    Department of Dermatology, Philipp University, Deutsch hausstrasse 9, D 35033 Marburg, Germany
    Eur J Dermatol 10:410-7. 2000
    ..The aim of AGA treatment is to reverse or to stabilize the process of HF miniaturization and with this overview we summarize the present treatment modalities for both men and women...
  30. 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...
  31. ncbi request reprint The feasibility of quantitative analysis of androgen metabolism by use of single dermal papillae from human hair follicles
    S Niiyama
    Department of Dermatology, Philipp University, Marburg, Germany
    Exp Dermatol 10:124-7. 2001
    ..Therefore the use of only one or two DP is at present not a reliable tool to analyze 5aR activity ex vivo...
  32. 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...
  33. ncbi request reprint Genetic susceptibility and severity of alopecia areata in human and animal models
    K McElwee
    Department of Dermatology Philipp University, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 11:11-6. 2001
    ..Genome wide allelic association screening of animal models and genetically related human sibling pairs may be a suitable approach to identifying susceptibility and severity modifying genes for AA...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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
    ....
  39. ncbi request reprint Didymosis aplasticosebacea: coexistence of aplasia cutis congenita and nevus sebaceus may be explained as a twin spot phenomenon
    R Happle
    Department of Dermatology, University Hospital Marburg, Germany
    Dermatology 202:246-8. 2001
    ..Co-occurrence of aplasia cutis congenita and nevus sebaceus has sometimes been observed...
  40. ncbi request reprint Trichoteiromania
    P Freyschmidt-Paul
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, 35033 Marburg, Germany
    Eur J Dermatol 11:369-71. 2001
    ..Light microscopy of the hair shafts showed split, brush-like ends of otherwise normal hair. We suggest the name trichoteiromania, which means "compulsive rubbing of hair", as a new term to describe hair loss in such cases...
  41. 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
    ....
  42. ncbi request reprint The novel drug CS-891 inhibits 5alpha-reductase activity in freshly isolated dermal papilla of human hair follicles
    S Niiyama
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D 35033 Marburg, Germany
    Eur J Dermatol 10:593-5. 2000
    ..As a prerequisite for such an action CS-891 should be able to inhibit 5aR activity in its target tissue: the hair follicles (HF). Here we report on the capability of CS-891 to inhibit 5aR activity in dermal papillae (DP) of human HF...
  43. 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...
  44. ncbi request reprint [Phylloid hypomelanosis and mosaic trisomy 13: a new etiologically defined neurocutaneous syndrome]
    R Happle
    Universitäts Hautklinik Marburg
    Hautarzt 52:3-5. 2001
    ..In contrast to hypomelanosis of Ito which is associated with many different forms of genetic mosaicism, phylloid hypomelanosis most likely represents a cytogenetically rather uniform neurocutaneous phenotype...
  45. 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...
  46. 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...
  47. 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...
  48. ncbi request reprint [Segmental type 2 manifestation of autosome dominant skin diseases. Development of a new formal genetic concept]
    R Happle
    Universitäts Hautklinik Marburg, Deutschhausstrasse 9, 35033 Marburg
    Hautarzt 52:283-7. 2001
    ..According to present knowledge, however, it is very likely that molecular analysis will confirm the described concept that can explain some so far enigmatic features as observed in autosomal dominant genodermatoses...
  49. 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...
  50. 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...
  51. ncbi request reprint Mucocutaneous telangiectases of the head and neck in individuals with hereditary hemorrhagic telangiectasia -- analysis of distribution and symptoms
    Benedikt J Folz
    Department of Otolaryngology, Head and Neck Surgery, Philipp University of Marburg, Deutschhausstr 3, 35037 Marburg, Germany
    Eur J Dermatol 14:407-11. 2004
    ..We conclude that telangiectases occur at an earlier age than generally thought and are a hallmark of a serious disorder rather than a cosmetic problem...
  52. 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...
  53. 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
    ....
  54. ncbi request reprint What is IFAP syndrome?
    Rudolf Happle
    Department of Dermatology, Deutschhausstrasse, Marburg, Germany
    Am J Med Genet A 124:328. 2004
  55. ncbi request reprint CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions
    Mario Bittar
    Department of Dermatology and Center of Human Genetics, University of Marburg, Marburg, Germany
    Arch Dermatol 142:348-51. 2006
    ..We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis...
  56. ncbi request reprint [Alopecia areata in animal models--new insights into pathogenesis and treatment of a T cell-mediated autoimmune disorder]
    Pia Freyschmidt-Paul
    Universitäts Hautklinik der Philipps Universität Marburg
    J Dtsch Dermatol Ges 2:260-73. 2004
    ....
  57. ncbi request reprint Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis
    Rudolf Happle
    Department of Dermatology, Philipp University of Marburg, Marburg, Germany
    Am J Med Genet A 125:221-3. 2004
    ....
  58. 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...
  59. ncbi request reprint [Rudolf Happle -- the 65th birthday]
    Arne König
    Klinik für Allgemeine Dermatologie und Allergologie, Philipps Universitat, Marburg
    J Dtsch Dermatol Ges 1:837-40. 2003
  60. 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...
  61. ncbi request reprint Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
    Karl Heinz Grzeschik
    Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
    Nat Genet 39:833-5. 2007
    ..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...
  62. ncbi request reprint Transposable elements and the lines of Blaschko: a new perspective
    Rudolf Happle
    Department of Dermatology, University of Marburg, Germany
    Dermatology 204:4-7. 2002
    ..In animals such as mice or dogs, retrotransposons may give rise to phenotypic variation in the form of variegated coat patterns reminiscent of the lines of Blaschko as observed in human skin...
  63. 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...
  64. 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...
  65. 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
    ....
  66. 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...
  67. ncbi request reprint Hermansky-Pudlak syndrome
    A Krisp
    Department of Dermatology, Philipp University, Deutschhausstr 9, D 35033 Marburg, Germany
    Eur J Dermatol 11:372-3. 2001
    ..The disorder is caused by mutations in the HPS1 gene on chromosome 10q23. The HPS1 gene product is involved in the trafficking of melanosomes, platelet dense bodies, and lysosomes...
  68. 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...
  69. 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
    ....
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. ncbi request reprint Becker's nevus syndrome revisited
    Retno Danarti
    Department of Dermatology at Philipp University, Marburg, Germany
    J Am Acad Dermatol 51:965-9. 2004
  76. ncbi request reprint Paradominant inheritance may explain familial occurrence of Cutis marmorata telangiectatica congenita
    R Danarti
    Department of Dermatology, Philipp University, Marburg, Germany
    Dermatology 203:208-11. 2001
    ..This concept may explain the occasional familial occurrence of CMTC...
  77. 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...
  78. ncbi request reprint Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I
    S Niiyama
    Department of Dermatology, Philipp University, Deutschhausstrasse 9, D-35033 Marburg, Germany
    Eur J Dermatol 11:244-6. 2001
    ..To our knowledge, no other report is so far available concerning GA-I complicated by skin eruptions...
  79. 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...
  80. 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...
  81. 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...
  82. 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...
  83. 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...
  84. 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...
  85. 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...
  86. ncbi request reprint Nevi flammei affecting two contralateral quadrants and nevus depigmentosus: a new type of phacomatosis pigmentovascularis?
    E Dippel
    Department of Dermatology, Venereology, and Allergology, University Medical Center, Mannheim, Ruprecht Karl University of Heidelberg, Mannheim, Germany
    Am J Med Genet A 119:228-30. 2003
    ..This combination of vascular and pigmentary abnormalities may represent a novel type of phacomatosis pigmentovascularis caused by non-allelic twin-spotting...
  87. 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
  88. ncbi request reprint Evaluation of skin susceptibility to irritancy by routine patch testing with sodium lauryl sulfate
    H Loffler
    Department of Dermatology, Philipp University Marburg, Deutschhausstr 9, D 35033 Marburg, Germany
    Eur J Dermatol 11:416-9. 2001
    ..After a 48 hrs patch test with SLS 0.5% TEWL measurement should be performed at 72 hrs. A value of < or =31.6 g/m(2)hr seems to follow the normal distribution...
  89. ncbi request reprint The lines of Blaschko on the head and neck
    R Happle
    Department of Dermatology, Philipp University of Marburg, Germany
    J Am Acad Dermatol 44:612-5. 2001
    ..The system of Blaschko's lines has been insufficiently documented on the head and neck...
  90. 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...
  91. ncbi request reprint Fox-Fordyce disease in a male patient--response to oral retinoid treatment
    I Effendy
    Department of Dermatology, University of Marburg, Germany
    Clin Exp Dermatol 19:67-9. 1994
    ..Fox-Fordyce disease (apocrine milaria) is predominantly observed in women. A male patient with typical features of this disorder is described. Oral treatment with isotretinoin resulted in temporary relief...
  92. pmc Mutational spectrum of NSDHL in CHILD syndrome
    D Bornholdt
    Department of Human Genetics, Philipp University, Marburg, Germany
    J Med Genet 42:e17. 2005
  93. doi request reprint ["Die grosse Barb" in the museum of the University of Marburg. An early documentation of acromegaly]
    W Krause
    Klinik für Dermatologie und Allergologie, Universitätsklinikum Giessen und Marburg Standort Marburg, Deutschhausstrasse 9, 35033, Marburg
    Hautarzt 60:502-4. 2009
    ..It is also unknown, whether she owes her position as a chambermaid to her gigantism, for it was a common use in courts to have people with abnormal body shapes in attendance...
  94. 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
    ....
  95. 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."..
  96. 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...
  97. 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...
  98. ncbi request reprint Diphencyprone immunotherapy alters anti-hair follicle antibody status in patients with alopecia areata
    Desmond J Tobin
    Department of Biomedical Sciences, University of Bradford, Bradford, West Yorkshire, BD7 1DP, England
    Eur J Dermatol 12:327-34. 2002
    ..Moreover, the presence/titer of anti-HF antibodies may be a marker of clinical disease activity or opportunity for spontaneous regrowth...
  99. ncbi request reprint Familial cutis tricolor: a possible example of paradominant inheritance
    Mete Baba
    Baskent University Faculty of Medicine, Department of Dermatology, Adana Hospital, 01250 Adana, Turkey
    Eur J Dermatol 13:343-5. 2003
    ..We report two sisters with cutis tricolor. One of them had, in addition, unilateral hypoplasia of the breast. This familial occurrence of cutis tricolor may best be explained by the concept of paradominant inheritance. 2003...
  100. ncbi request reprint Melorheostosis with ipsilateral nevus sebaceus (didymosis melorheosebacea)
    Sigrid Tinschert
    Institute of Medical Genetics, Charité Medical Centre, Humboldt University, Berlin, Germany
    Eur J Dermatol 13:21-4. 2003
    ..If this concept holds true, the present case may be described as " didymosis melorheosebacea "...
  101. doi request reprint Phacomatosis cesioflammea with unilateral lipohypoplasia
    Marco Castori
    Laboratory of Molecular and Cell Biology, IDI IRCCS, Rome, Italy
    Am J Med Genet A 146:492-5. 2008
    ..The patchy distribution of lipohypoplasia and its spatial relationship with vascular lesions strongly support the hypothesis of a postzygotic recombination event...