Rudolf Happle

Rudolf Happle

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Rudolf Happle

Publications by authors named "Rudolf Happle"

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Molecular Corroboration of Type 2 Segmental Mosaicism in Various Types of Porokeratosis.

Authors:
Rudolf Happle

JAMA Dermatol 2019 Apr 3. Epub 2019 Apr 3.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1001/jamadermatol.2019.0134DOI Listing
April 2019

Sparing of the nipple-areola complex by capillary malformations: Vascular variant of the Bork-Baykal phenomenon.

Pediatr Dermatol 2019 Apr 15. Epub 2019 Apr 15.

Department of Dermatology, University Children's Hospital Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1111/pde.13844DOI Listing
April 2019

Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome.

Authors:
Rudolf Happle

Acta Derm Venereol 2019 Feb;99(2):240-241

Department of Dermatology, Medical Center - University of Freiburg, DE-79104 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-3071DOI Listing
February 2019

Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy.

Eur J Dermatol 2019 Feb;29(1):2-5

Department of Dermatology, Medical Center-University of Freiburg, Hauptstr 7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2018.3488DOI Listing
February 2019

Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A.

Pigment Cell Melanoma Res 2019 01 6;32(1):85-91. Epub 2018 Sep 6.

Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1111/pcmr.12733DOI Listing
January 2019

Superimposed linear atopic dermatitis.

Pediatr Dermatol 2018 Nov 28;35(6):e393-e395. Epub 2018 Aug 28.

Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1111/pde.13611DOI Listing
November 2018

Segmental Hailey-Hailey disease of the vulva.

Pediatr Dermatol 2018 Nov 30;35(6):e398-e399. Epub 2018 Aug 30.

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1111/pde.13625DOI Listing
November 2018

Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas.

Pediatr Dermatol 2018 Nov 31;35(6):e353-e356. Epub 2018 Aug 31.

Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany.

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http://doi.wiley.com/10.1111/pde.13656
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http://dx.doi.org/10.1111/pde.13656DOI Listing
November 2018

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Acta Derm Venereol 2018 Apr;98(5):534-535

Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Leipziger Str. 44, DE-39120 Magdeburg, Germany.

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http://dx.doi.org/10.2340/00015555-2883DOI Listing
April 2018

RASA1 Variants in Capillary Malformations of Children: A Comment to Maruani A et al.

Authors:
Rudolf Happle

Acta Derm Venereol 2018 04;98(5):539

Department of Dermatology, Medical Center - University of Freiburg, DE-79104 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-2903DOI Listing
April 2018

Becker's Nevus and Lethal Beta-Actin Mutations.

Authors:
Rudolf Happle

J Invest Dermatol 2017 Aug 16;137(8):1619-1621. Epub 2017 Jun 16.

Department of Dermatology, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.04.003DOI Listing
August 2017

Superimposed Segmental Manifestation of Juvenile Amyopathic Dermatomyositis in a 9-year-old Boy.

Indian J Dermatol 2017 Jul-Aug;62(4):440

Department of Pathology, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.

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http://dx.doi.org/10.4103/ijd.IJD_335_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527735PMC
August 2017

Psoriasis and alopecia areata in a Down syndrome patient: a Renbök phenomenon.

Eur J Dermatol 2017 06;27(3):300-301

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2017.2977DOI Listing
June 2017

Unilateral nevoid telangiectasia in two adolescents.

J Dtsch Dermatol Ges 2017 Jun 17;15(6):660-662. Epub 2017 May 17.

Department of Dermatology, Heidelberg University Hospital, Heidelberg.

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http://dx.doi.org/10.1111/ddg.13072DOI Listing
June 2017

Unilaterale nävoide Teleangiektasien bei zwei Jugendlichen.

J Dtsch Dermatol Ges 2017 Jun;15(6):660-662

Hautklinik, Universitätsklinikum Heidelberg, Heidelberg.

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http://dx.doi.org/10.1111/ddg.13072_gDOI Listing
June 2017

The Molecular Revolution in Cutaneous Biology: Era of Mosaicism.

Authors:
Rudolf Happle

J Invest Dermatol 2017 05;137(5):e73-e77

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.03.045DOI Listing
May 2017

The Effect of Regulation on Pediatric Psoriasis Drug Approvals: The Challenge of the European Union Pediatric Investigation Plans.

Pediatr Dermatol 2017 05;34(3):e154-e159

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1111/pde.13097DOI Listing
May 2017

Do Giant Melanocytic Naevi Tend to Spare the Umbilicus?

Acta Derm Venereol 2016 11;96(7):998-999

Department of Dermatology, Freiburg University Medical Center, 79104 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-2442DOI Listing
November 2016

Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome".

Eur J Dermatol 2015 May-Jun;25(3):223-7

Department of Dermatology, Freiburg University Medical Center, Hauptstr. 7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2015.2529DOI Listing
May 2016

Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis.

Authors:
Rudolf Happle

Eur J Med Genet 2016 May 4;59(5):290-4. Epub 2016 Apr 4.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.04.001DOI Listing
May 2016

Goltz syndrome and PORCN: A view from Europe.

Authors:
Rudolf Happle

Am J Med Genet C Semin Med Genet 2016 Mar 22;172C(1):21-3. Epub 2016 Jan 22.

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http://dx.doi.org/10.1002/ajmg.c.31469DOI Listing
March 2016

Phacomatosis Melanorosea: A Further Case of an Unusual Skin Disorder.

Acta Derm Venereol 2016 Feb;96(2):280-2

Department of Dermatology, Marmara University School of Medicine, 34899 Istanbul, Turkey.

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http://dx.doi.org/10.2340/00015555-2192DOI Listing
February 2016

The categories of cutaneous mosaicism: A proposed classification.

Authors:
Rudolf Happle

Am J Med Genet A 2016 Feb 22;170A(2):452-459. Epub 2015 Oct 22.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37439DOI Listing
February 2016

Melanocytic nevi, genetic engineering, and journalistic disinformation.

Authors:
Rudolf Happle

J Dtsch Dermatol Ges 2015 Dec 18;13(12):1278-9. Epub 2015 Nov 18.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1111/ddg.12676DOI Listing
December 2015

Large deletions in the NSDHL gene in two patients with CHILD syndrome.

Acta Derm Venereol 2015 Nov;95(8):1007-8

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.2340/00015555-2143DOI Listing
November 2015

Phylloid hypermelanosis: a cutaneous marker of several different disorders?

Pediatr Dermatol 2014 Jul-Aug;31(4):504-6. Epub 2012 Dec 28.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1111/pde.12053DOI Listing
May 2015

Segmental prurigo pigmentosa.

Pediatr Dermatol 2014 Jul-Aug;31(4):523-5. Epub 2014 May 20.

Department of Dermatology, Hospital del Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1111/pde.12349DOI Listing
May 2015

Superimposed segmental dermatomyositis is a juvenile disorder.

Authors:
Rudolf Happle

Eur J Dermatol 2014 May-Jun;24(3):291-2

Department of Dermatology, Freiburg University Medical Center, Hauptstr.7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2014.2363DOI Listing
May 2015

Familial disseminated comedones without dyskeratosis: report of an affected family and review of the literature.

Dermatology 2014 8;228(4):303-6. Epub 2014 May 8.

Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, China.

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http://dx.doi.org/10.1159/000360818DOI Listing
April 2015

Nevus of striated muscle: a new clinicopathologic entity.

Pediatr Dermatol 2014 Mar-Apr;31(2):254-6

Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.

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http://dx.doi.org/10.1111/pde.12298DOI Listing
January 2015

Superimposed linear lichen planus in a 4-year-old girl.

Int J Dermatol 2014 Nov 29;53(11):e541-2. Epub 2014 Jul 29.

Department of Dermatology, Faculty of Medicine, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1111/ijd.12514DOI Listing
November 2014

Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.

Am J Med Genet A 2014 Nov 22;164A(11):2947-51. Epub 2014 Sep 22.

Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Turkey.

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http://dx.doi.org/10.1002/ajmg.a.36727DOI Listing
November 2014

Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome.

Eur J Dermatol 2013 Jul-Aug;23(4):547-8

Department of Dermatology, Freiburg University Medical Center, Hauptstr. 7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2013.2082DOI Listing
June 2014

Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica.

J Dermatol Case Rep 2014 Jun 30;8(2):58-9. Epub 2014 Jun 30.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.3315/jdcr.2014.1174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4094740PMC
June 2014

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.

Acta Derm Venereol 2014 May;94(3):346-8

Department of Dermatology, University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-1695DOI Listing
May 2014

Linear collagen naevus: an unusual connective tissue disorder.

Acta Derm Venereol 2014 May;94(3):361-2

Department of Dermatology, Freiburg University Medical Center, 79104 Freiburg, Germany.

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http://dx.doi.org/10.2340/00015555-1747DOI Listing
May 2014

Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement.

Int J Dermatol 2014 Apr 10;53(4):476-8. Epub 2013 Dec 10.

As'ad Al-Hamad Dermatology Center, Al-Sabah Hospital, Kuwait City, KuwaitDepartment of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1111/j.1365-4632.2012.05586.xDOI Listing
April 2014

Targeting epidermal lipids for treatment of Mendelian disorders of cornification.

Orphanet J Rare Dis 2014 Mar 7;9:33. Epub 2014 Mar 7.

Department of Dermatology, Medical Center-University of Freiburg, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1186/1750-1172-9-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975448PMC
March 2014

A band-like balding disorder.

Lancet 2014 Feb 11;383(9917):e14. Epub 2013 Oct 11.

Department of Dermatology and Venereology, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/S0140-6736(13)60804-1DOI Listing
February 2014

Phacomatosis pigmentokeratotica is a "pseudodidymosis".

Authors:
Rudolf Happle

J Invest Dermatol 2013 Aug;133(8):1923-5

Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/jid.2013.74DOI Listing
August 2013

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Am J Med Genet A 2013 Jul 21;161A(7):1750-4. Epub 2013 May 21.

Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35964DOI Listing
July 2013

Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome.

J Dermatol Case Rep 2013 Jun 30;7(2):49-51. Epub 2013 Jun 30.

Department of Dermatology, Hospital del Niño Jesús, San Miguel de Tucumán, Tucumán, Argentina;

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http://dx.doi.org/10.3315/jdcr.2013.1138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710678PMC
June 2013

Nevus sebaceus is a mosaic RASopathy.

Authors:
Rudolf Happle

J Invest Dermatol 2013 Mar;133(3):597-600

Department of Dermatology, Freiburg University Medical Center, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1038/jid.2012.447DOI Listing
March 2013

Phacomatosis melanorosea without extracutaneous features: an unusual type of phacomatosis pigmentovascularis.

Eur J Dermatol 2012 Jul-Aug;22(4):473-5

Freiburg University Medical Center, Department of Dermatology, Hauptstrasse 7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2012.1780DOI Listing
February 2013

Multiple basal cell carcinomas in a 38-year-old woman with Goltz syndrome.

Dermatology 2012 9;224(2):97-100. Epub 2012 Mar 9.

Department of Internal Medicine, Oldness and Nephrologic Diseases, Dermatology, University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1159/000336204DOI Listing
October 2012

Porokeratotic eccrine nevus may be caused by somatic connexin26 mutations.

J Invest Dermatol 2012 Sep 17;132(9):2184-91. Epub 2012 May 17.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/jid.2012.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422696PMC
September 2012

Hornstein-Birt-Hogg-Dubé syndrome: a renaming and reconsideration.

Authors:
Rudolf Happle

Am J Med Genet A 2012 Jun 11;158A(6):1247-51. Epub 2012 May 11.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35330DOI Listing
June 2012

Rud syndrome does not exist.

Authors:
Rudolf Happle

Eur J Dermatol 2012 Jan-Feb;22(1)

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http://dx.doi.org/10.1684/ejd.2011.1601DOI Listing
May 2012

Superimposed segmental vitiligo should not be categorized as "type 2 mosaicism".

Authors:
Rudolf Happle

J Am Acad Dermatol 2012 May;66(5):852

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http://dx.doi.org/10.1016/j.jaad.2011.10.035DOI Listing
May 2012

Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome.

An Bras Dermatol 2011 May-Jun;86(3):557-9

Federal University of Pelotas (UFPel), at the Catholic University of Pelotas (UCPEL), Brazil.

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February 2012

Unilateral nevoid telangiectasias with anemic halos: why aren't they twin spots?

Authors:
Rudolf Happle

J Dtsch Dermatol Ges 2012 Feb;10(2):140; author reply 141

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February 2012

Didymosis cesioanemica: an unusual counterpart of phacomatosis cesioflammea.

Authors:
Rudolf Happle

Eur J Dermatol 2011 Jul-Aug;21(4):471

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http://dx.doi.org/10.1684/ejd.2011.1331DOI Listing
December 2011

Superimposed linear psoriasis: a historical case revisited.

Authors:
Rudolf Happle

J Dtsch Dermatol Ges 2011 Dec 25;9(12):1027-8; discussion 1029. Epub 2011 Oct 25.

Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.

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http://dx.doi.org/10.1111/j.1610-0387.2011.07777_1.xDOI Listing
December 2011

Smoker's boils.

Dermatology 2011 26;222(3):282-4. Epub 2011 May 26.

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1159/000327923DOI Listing
November 2011

Nevus trichilemmocysticus: report of a new case of a recently recognized entity.

Pediatr Dermatol 2011 May-Jun;28(3):286-9. Epub 2010 Sep 1.

Department of Dermatology, Hospital Alemán, Buenos Aires, Argentina.

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http://dx.doi.org/10.1111/j.1525-1470.2010.01246.xDOI Listing
September 2011

A novel X-linked phenotype caused by hypomorphic EBP mutations.

Authors:
Rudolf Happle

Am J Med Genet A 2011 Jul 4;155A(7):1770-1; author reply 1772. Epub 2011 Apr 4.

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http://dx.doi.org/10.1002/ajmg.a.33988DOI Listing
July 2011

When chest pain reveals a Fabry disease.

Presse Med 2011 May 15;40(5):540-4. Epub 2011 Jan 15.

AP-HP, Hôpital Bichat-Claude-Bernard, Department of Internal Medicine, 75877 Paris cedex 18, France.

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http://dx.doi.org/10.1016/j.lpm.2010.10.025DOI Listing
May 2011

The rhodoid nevus: a proposed term for a so far unnamed capillary malformation.

Authors:
Rudolf Happle

Dermatology 2010 15;221(4):317-9. Epub 2010 Nov 15.

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http://dx.doi.org/10.1159/000321331DOI Listing
April 2011

A hairy paradox: congenital triangular alopecia with a central hair tuft.

Dermatology 2010 26;221(2):107-9. Epub 2010 Jun 26.

Centre Sabouraud, Saint Louis Hospital, Paris, France.

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https://www.karger.com/Article/FullText/314691
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http://dx.doi.org/10.1159/000314691DOI Listing
December 2010

Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis.

Dermatology 2010 13;221(2):149-53. Epub 2010 Jul 13.

Department of Dermatology, Hôpitaux Universitaires de Genève, Genève, Switzerland.

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http://dx.doi.org/10.1159/000315068DOI Listing
December 2010

Superimposed linear psoriasis unmasked by therapy with adalimumab.

Eur J Dermatol 2010 Sep-Oct;20(5):573-4. Epub 2010 Jul 9.

Department of Dermatology, University Clinic Basel, Petersgraben 4, 4031 Basel, Switzerland.

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http://dx.doi.org/10.1684/ejd.2010.1016DOI Listing
November 2010

Superimposed segmental dermatomyositis: an emerging new paradigm.

Authors:
Rudolf Happle

Eur J Dermatol 2010 Sep-Oct;20(5):551. Epub 2010 Aug 24.

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http://dx.doi.org/10.1684/ejd.2010.1036DOI Listing
November 2010

Donor dominance cures CHILD nevus.

Dermatology 2010 9;220(4):340-5. Epub 2010 Apr 9.

Department of Dermatology, Philipp University, Deutschhausstrasse 9, Marburg, Germany.

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http://dx.doi.org/10.1159/000287253DOI Listing
October 2010

Giant melanocytic nevus may be explained as a superimposed patchy manifestation of a polygenic trait.

Authors:
Rudolf Happle

Dermatology 2010 Aug 24;221(1):30-3. Epub 2010 Apr 24.

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http://dx.doi.org/10.1159/000278229DOI Listing
August 2010

Type 2 segmental manifestation of "blue rubber bleb nevus syndrome": a reappraisal of 5 case reports.

Authors:
Rudolf Happle

Eur J Dermatol 2010 May-Jun;20(3):266-8. Epub 2010 Mar 9.

Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany.

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http://dx.doi.org/10.1684/ejd.2010.0901DOI Listing
July 2010

Superimposed linear lichen planopilaris: another polygenic disorder exemplifying a new genetic concept.

Eur J Dermatol 2010 May-Jun;20(3):269-70

Department of Dermatology and Allergy, University of Bonn, Sigmund-Freud-Str. 25, 53127 Bonn, Germany.

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http://dx.doi.org/10.1684/ejd.2010.0897DOI Listing
July 2010

The group of epidermal nevus syndromes Part I. Well defined phenotypes.

Authors:
Rudolf Happle

J Am Acad Dermatol 2010 Jul;63(1):1-22; quiz 23-4

Department of Dermatology, University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/j.jaad.2010.01.017DOI Listing
July 2010

The group of epidermal nevus syndromes Part II. Less well defined phenotypes.

Authors:
Rudolf Happle

J Am Acad Dermatol 2010 Jul;63(1):25-30; quiz 31-2

Department of Dermatology, University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/j.jaad.2010.01.016DOI Listing
July 2010

CHILD syndrome vs. unilateral psoriasis.

Int J Dermatol 2010 Jul;49(7):847-8

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http://dx.doi.org/10.1111/j.1365-4632.2009.04265.xDOI Listing
July 2010

Superimposed segmental hemangioma of infancy.

Authors:
Rudolf Happle

Dermatology 2010 17;220(2):180-2. Epub 2009 Nov 17.

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http://dx.doi.org/10.1159/000259316DOI Listing
June 2010

Phylloid hypermelanosis: an unusual form of pigmentary mosaicism.

Authors:
Rudolf Happle

Dermatology 2010 26;220(2):183-5. Epub 2010 Jan 26.

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http://dx.doi.org/10.1159/000277313DOI Listing
June 2010

Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension.

Acta Derm Venereol 2010 May;90(3):279-82

Department of Dermatology, Necker Hospital, MAGEC Reference Centre, NSERM U-781, René Descartes Paris V University, Paris, France.

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http://dx.doi.org/10.2340/00015555-0824DOI Listing
May 2010

Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?

Eur J Pediatr 2010 Apr 26;169(4):495-500. Epub 2009 Aug 26.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, Arnold-Heller-Str. 3, Haus 9, 24105, Kiel, Germany.

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http://link.springer.com/10.1007/s00431-009-1046-5
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http://dx.doi.org/10.1007/s00431-009-1046-5DOI Listing
April 2010

Speckled lentiginous nevi: no longer one single disorder.

Authors:
Rudolf Happle

Arch Dermatol 2010 Feb;146(2):204

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http://dx.doi.org/10.1001/archdermatol.2009.393DOI Listing
February 2010

Mibelli revisited: a case of type 2 segmental porokeratosis from 1893.

Authors:
Rudolf Happle

J Am Acad Dermatol 2010 Jan 25;62(1):136-8. Epub 2009 Jul 25.

Department of Dermatology, Philipp University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/j.jaad.2008.12.049DOI Listing
January 2010

Pronounced linear calcinosis in a boy with mild dermatomyositis. A further possible example of superimposed segmental manifestation of a polygenic disorder.

Dermatology 2009 14;219(2):155-7. Epub 2009 May 14.

Department of Dermatology, Hospital del Niño Jesús, Tucumán, Argentina.

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http://dx.doi.org/10.1159/000219246DOI Listing
December 2009

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

Pediatr Dermatol 2009 Jul-Aug;26(4):427-31

Department of Dermatology, Prince of Wales Hospital, Sydney, Australia.

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http://dx.doi.org/10.1111/j.1525-1470.2009.00946.xDOI Listing
October 2009

Angioma serpiginosum is not caused by PORCN mutations.

Authors:
Rudolf Happle

Eur J Hum Genet 2009 Jul 1;17(7):881-2; author reply 882. Epub 2009 Apr 1.

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http://dx.doi.org/10.1038/ejhg.2009.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986492PMC
July 2009

What is a capillary malformation?

Authors:
Rudolf Happle

J Am Acad Dermatol 2008 Dec;59(6):1077-9

Department of Dermatology, Philipp University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1016/j.jaad.2008.07.035DOI Listing
December 2008

Type 2 segmental acanthosis nigricans: a historical case explained by a new concept.

Authors:
Rudolf Happle

Arch Dermatol 2008 Dec;144(12):1637

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http://dx.doi.org/10.1001/archderm.144.12.1637DOI Listing
December 2008

Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.

Acta Derm Venereol 2008 ;88(4):382-7

Department of Dermatology, Philipp University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.2340/00015555-0495DOI Listing
November 2008