Rudolf Happle

Rudolf Happle
University Medical Center Freiburg · Department of Dermatology and Venereology

50.61

About

894
Publications
39,299
Reads
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19,313
Citations
Introduction
Skills and Expertise
Molecular Genetics

Publications

Publications (894)
A Family with Palmar and Plantar Hyperkeratosis: A Quiz
Article
  • Feb 2020
Hornstein‐Knickenberg syndrome versus Birt‐Hogg‐Dubé syndrome: a critical review of an unjustified designation
Article
Full-text available
  • Jan 2020
Phacomatosis Pigmentovascularis is Not a Twin-Spot Phenomenon
Article
  • Dec 2019
An unusual type of telangiectatic nevus with underlying and surrounding dilated veins: report of four cases
Article
  • Nov 2019
Systematized nevoid hypertrichosis may herald Happle‐Tinschert syndrome
Article
  • Nov 2019
Diphencyprone: the career of a strong contact sensitizer in clinical dermatology
Article
Full-text available
  • Nov 2019
Superimposed segmental dermatosis papulosa nigra
Article
  • Oct 2019
Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
Article
  • Oct 2019
Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus
Article
  • Sep 2019
Gonosomal versus somatogonadal mosaicism: What is in a name?
Article
  • May 2019
Syndrome mit vaskulären Anomalien der HautSyndromes with vascular skin anomalies
Article
  • May 2019
Postzygotic HRAS mutation in heterochromia of straight scalp hair
Article
  • Apr 2019
Sparing of the nipple‐areola complex by capillary malformations: Vascular variant of the Bork–Baykal phenomenon
Article
Full-text available
  • Apr 2019
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy
Article
  • Mar 2019
局灶性真皮发育不全女性中的嵌合现象
Article
  • Mar 2019
Mosaicism in women with focal dermal hypoplasia
Article
  • Mar 2019
Korean gender differences in hidradenitis suppuratva: nature or nurture?
Article
  • Feb 2019
Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations
Article
  • Feb 2019
Hereditary and Congenital Nail Disorders
Chapter
  • Dec 2018
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome
Article
Full-text available
  • Oct 2018
Rauschendorf et al-2018-Pigment Cell & Melanoma Research.sup-1
Data
  • Sep 2018
Terminal osseous dysplasia presenting with intracytoplasmic inclusion bodies in digital fibromas
Article
  • Aug 2018
Segmental Hailey-Hailey disease of the vulva
Article
  • Aug 2018
Superimposed linear atopic dermatitis
Article
  • Aug 2018
Homozygous intronic MITF mutation causes severe Waardenburg syndrome type 2A
Article
  • Aug 2018
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia
Article
  • Jul 2018
Mosaizismus und epidermale Nävi
Chapter
  • May 2018
Kapilläre Nävi und andere vaskuläre Malformationen
Chapter
  • May 2018
The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): A new Mendelian disorder of cornification
Article
  • May 2018
Answer to Nwabudike LC and al. Koebner's sheep in Wolf's clothing: does the isotopic response exist as a distinct phenomenon?
Article
  • Feb 2018
RASA1 Variants in Capillary Malformations of Children: A Comment to Maruani A et al
Article
  • Feb 2018
The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine
Article
  • Feb 2018
A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
Article
  • Jan 2018
Conradi-Hünermann-Happle Syndrome Misdiagnosed as Rud's Syndrome in Korea
Article
Full-text available
  • Jan 2018
Koebner's sheep in Wolf's clothing: Does the isotopic response exist as a distinct phenomenon?
Article
  • Oct 2017
Lessons to be learned from type 1 segmental Gorlin syndrome
Article
  • Jul 2017
Superimposed Segmental Manifestation of Juvenile Amyopathic Dermatomyositis in a 9-year-old Boy
Article
  • Jul 2017
Becker’s Nevus and Lethal Beta-Actin Mutations
Article
Full-text available
  • Jun 2017
Unilaterale nävoide Teleangiektasien bei zwei Jugendlichen
Article
  • Jun 2017
The Molecular Revolution in Cutaneous Biology: Era of Mosaicism
Article
  • May 2017
Unilateral nevoid telangiectasia in two adolescents
Article
  • May 2017
The Effect of Regulation on Pediatric Psoriasis Drug Approvals: The Challenge of the European Union Pediatric Investigation Plans
Article
  • May 2017
Rhodoid naevus syndrome: Why is this name preferable to 'capillary malformation-arteriovenous malformation'?
Article
  • Apr 2017
CASE REPORT Phacomatosis Cesioflammea with Cutis Marmorata‑like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder?
Article
Full-text available
  • Mar 2017
Psoriasis and alopecia areata in a Down syndrome patient: a Renbök phenomenon
Article
  • Mar 2017
Phacomatosis Cesioflammea with Cutis Marmorata-like Lesions and Unusual Extracutaneous Abnormalities: Is It a Distinct disorder?
Article
  • Mar 2017
At first sight or second glance: Clinical presentation of mosaic manifestations of autosomal dominant skin disorders - a case series
Article
  • Mar 2017
A case of mosaicism in ectodermal dysplasia - skin fragility syndrome
Article
  • Feb 2017
Mosaizismus und epidermale Nävi
Chapter
  • Jan 2017
Kapilläre Nävi und andere vaskuläre Malformationen
Chapter
  • Jan 2017
Editors and contributing authors
Chapter
  • Dec 2016
1. General aspects of aetiology, diagnostics and therapy
Chapter
  • Dec 2016
The Bork-Baykal phenomenon: A revised eponymic designation for the sparing of nipple and areola in large melanocytic nevi involving the breast
Article
  • Sep 2016
Happle‐Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry‐Jones syndrome
Article
  • Aug 2016
Do Giant Melanocytic Naevi Tend to Spare the Umbilicus?
Article
  • Apr 2016
Progressive osseous heteroplasia is not a Mendelian trait but a type 2 segmental manifestation of GNAS inactivation disorders: A hypothesis
Article
  • Apr 2016
Case report: combined albinism and deafness in an Argentinian family
Poster
Full-text available
  • Mar 2016
Neurocutaneous disorders - A Clinical, Diagnostic and Therapeutic Approach
Book
  • Feb 2016
Sparing of the nipple-areola complex in segmental dermal melanocytosis involving the breast
Article
  • Jan 2016
Goltz syndrome and PORCN: A view from Europe
Article
  • Jan 2016
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis
Article
Full-text available
  • Jan 2016
Mutations activatrices de GNA11 et GNAQ en mosaïque dans les phacomatoses pigmento-vasculaires et les taches mongoliques étendues
Article
  • Dec 2015
Melanozytäre Nävi, Gentechnik und journalistische Desinformation
Article
  • Dec 2015
Melanocytic nevi, genetic engineering, and journalistic disinformation
Article
  • Nov 2015
The Baykal phenomenon: Large congenital melanocytic nevi involving the breast tend to spare the nipple and areola
Article
  • Nov 2015
The categories of cutaneous mosaicism: A proposed classification
Article
  • Oct 2015
Phacomatosis spilorosea: Visual diagnosis and associated pathologies of a rare entity
Article
  • Sep 2015
Phacomatosis
Data
  • Aug 2015
Phacomatosis Melanorosea: A Further Case of an Unusual Skin Disorder
Article
Full-text available
  • Jun 2015
Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome"
Article
  • May 2015
Capillary malformations: A classification using specific names for specific skin disorders
Article
  • Apr 2015
Differential Diagnosis of Hyper Pigmentation in Childhood
Article
  • Apr 2015
Segmental hypomelanosis and hypermelanosis arranged in a checkerboard pattern are distinct naevi: Flag-like hypomelanotic naevus and flag-like hypermelanotic naevus
Article
  • Mar 2015
A case of hypertrichotic smooth muscle hamartoma: Is it an amelanotic Becker naevus?
Article
  • Feb 2015
Oculoectodermal Syndrome: Report of a New Case With a Broad Clinical Spectrum
Article
  • Nov 2014
Segmentally arranged seborrhoeic keratoses with impending atypia and squamous cell carcinoma in an elderly woman
Article
  • Nov 2014
Blaschko line acne on pre‐existent hypomelanosis reflecting a mosaic FGFR2 mutation
Article
  • Oct 2014
An unusual linear hypermelanosis reflecting lyonization in women with Börjeson-Forssman-Lehmann syndrome
Article
  • Sep 2014
Didymotic Skin Disorders
Chapter
  • Aug 2014
Mosaicism as a Biological Concept
Chapter
  • Aug 2014
Less Well Defined or So Far Unclassifiable Patterns
Chapter
  • Aug 2014
Two Major Categories of Mosaicism
Chapter
  • Aug 2014
Relationship Between Hypomorphic Alleles and Mosaicism of Lethal Mutations
Chapter
  • Aug 2014
Nevoid Skin Disorders
Chapter
  • Aug 2014
Mosaic Manifestation of Autosomal Dominant Skin Disorders
Chapter
  • Aug 2014
Superimposed linear lichen planus in a 4-year-old girl
Article
  • Jul 2014
A neurocutaneous rarity: Phacomatosis pigmentokeratotica
Article
Full-text available
  • Jun 2014
Mosaicismo tipo 2 en glomangiomatosis familiar
Article
  • Jun 2014
[How frequently does genetic mosaicism occur in the skin?]
Article
  • Jun 2014
Superimposed segmental dermatomyositis is a juvenile disorder
Article
  • Jun 2014
A New Mutation of the Emopamil Binding Protein (EBP) Gene in a Girl with Conradi-Hunermann-Happle Syndrom
Article
  • Jun 2014
Nevus roseus
Article
  • Jun 2014
Acral basal cell carcinoma as an early sign of Gorlin syndrome
Article
  • Jun 2014
Familial Disseminated Comedones without Dyskeratosis: Report of an Affected Family and Review of the Literature
Article
Full-text available
  • May 2014
Segmental Prurigo Pigmentosa
Article
  • May 2014
Large deletions in the NSDHL gene in two patients with CHILD syndrome
Article
Full-text available
  • May 2014
Superimposed lateralized exanthem of childhood: Report of a case related to adenovirus infection
Article
  • Apr 2014
Targeting epidermal lipids for treatment of Mendelian disorders of cornification
Article
Full-text available
  • Mar 2014
Nevus of Striated Muscle: A New Clinicopathologic Entity
Article
  • Mar 2014
Revertant Mosaicism
Chapter
  • Jan 2014

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Projects

Project (1)
Genodermatosis
Project