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Zentrum für Fragile Haut und Epidermolysis bullosa am Universitätsklinikum Freiburg

Decription of facility

Director / Spokesperson
Prof. Dr. Leena Bruckner-Tuderman
Information
Care facility for adults and children
Decription

Das Zentrum für Fragile Haut und Epidermolysis bullosa (EB) an der Klinik für Dermatologie & Venerologie des Universitätsklinikums Freiburg bietet seit 2003 hochspezialisierte Diagnostik, Beratung und Therapie für Patienten mit seltenen Hautfragilitätserkrankungen an. Zu den behandelten Erkrankungen gehören genetisch oder autoimmun-bedingte Hautkrankheiten, die mit hoher Verletzlichkeit der Haut und chronischen Wunden einhergehen und die Funktionsfähigkeit sowie die Lebensqualität der Patienten und ihrer Angehörigen stark beeinträchtigen. Patienten werden bundesweit und aus verschiedenen europäischen Ländern ins Zentrum zugewiesen, sie profitieren von schneller Diagnostik, hochspezialisierter und interdisziplinärer Versorgung und können sich an klinischen Studien beteiligen.

Das Zentrum ist in die Strukturen der Klinik für Dermatologie & Venerologie eingebettet und hat drei Säulen in der Patientenversorgung: die EB-Sprechstunde, die Autoimmunsprechstunde und die Genodermatosensprechstunde für die verschiedenen Untergruppen der Hautfragilitätserkrankungen.

Für die innovative Spezialdiagnostik verfügt das Zentrum über ein akkreditiertes Immunfluoreszenzlabor für die Analyse von Hautproben und für serologische Immundiagnostik, sowie über eine Kooperation mit dem MVZ Humangenetik zur molekulargenetischen Diagnosestellung.

Im Zentrum finden regelmäßig interdisziplinäre/-professionelle Fallkonferenzen für Epidermolysis bullosa, Genodermatosen und Autoimmunerkrankungen sowie ein wöchentliches wissenschaftliches Kolloquium statt.

Consultation hours

Special consultation hours:
nach Vereinbarung

Care provisions

This facility offers the following
  • Participation in registries
  • Social / legal advice
  • Genetic counselling
  • Clinical studies / research
  • Diagnostic
  • Therapy
  • Contact person for patients with an unclear diagnosis

Contact

Daniela Kirstein
0761 27066140
eb-zentrum@uniklinik-freiburg.de
Website

https://www.uniklinik-freiburg.de/hautklinik/kompetenzzentrum-fuer-fragile-haut-und-epidermolysis-bullosa.html

Address

Hauptstraße 7
79104 Freiburg

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

European Reference Network 1

Preview of the assigned diseases 12

Inherited epidermolysis bullosa Localized junctional epidermolysis bullosa, non-Herlitz type Syndromic recessive X-linked ichthyosis Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-cutaneous syndactyly syndrome Epidermolysis bullosa simplex due to BP230 deficiency Cutis marmorata telangiectatica congenita Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Combined immunodeficiency-enteropathy spectrum Epidermolysis bullosa simplex due to exophilin 5 deficiency Geroderma osteodysplastica Keratoderma hereditarium mutilans with ichthyosis Congenital non-bullous ichthyosiform erythroderma Acral self-healing collodion baby Epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex, generalized severe Self-improving collodion baby Epidermolysis bullosa simplex, generalized intermediate Acrokeratoelastoidosis of Costa Epidermolysis bullosa simplex, Ogna type Localized epidermolysis bullosa simplex Junctional epidermolysis bullosa-pyloric atresia syndrome Junctional epidermolysis bullosa, generalized intermediate Junctional epidermolysis bullosa inversa Autosomal dominant isolated diffuse palmoplantar keratoderma Junctional epidermolysis bullosa, generalized severe Late-onset junctional epidermolysis bullosa Recessive dystrophic epidermolysis bullosa inversa Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Severe generalized recessive dystrophic epidermolysis bullosa Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Transient bullous dermolysis of the newborn Curly hair-acral keratoderma-caries syndrome Pretibial dystrophic epidermolysis bullosa Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Annular epidermolytic ichthyosis Autosomal dominant diffuse mutilating palmoplantar keratoderma SCARF syndrome CEDNIK syndrome Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Diffuse neonatal hemangiomatosis Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Bathing suit ichthyosis Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Focal palmoplantar keratoderma Netherton syndrome X-linked ichthyosis syndrome Restrictive dermopathy Isolated focal palmoplantar keratoderma Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Punctate palmoplantar keratoderma type 1 Ichthyosis hystrix of Curth-Macklin Punctate palmoplantar keratoderma type 2 Ichthyosis hystrix gravior Generalized dominant dystrophic epidermolysis bullosa Mutilating palmoplantar keratoderma with periorificial keratotic plaques Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma-deafness syndrome Disease with focal palmoplantar keratoderma as a major feature Primary cutis verticis gyrata Palmoplantar keratoderma, Nagashima type Papillon-Lefèvre syndrome Isolated congenital adermatoglyphia Hidrotic ectodermal dysplasia Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Cutis laxa Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Autosomal recessive cutis laxa type 2, classic type Porokeratosis of Mibelli Palmoplantar porokeratosis of Mantoux Porokeratosis plantaris palmaris et disseminata Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Autosomal recessive cutis laxa type 1 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome Autosomal dominant cutis laxa Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex, autosomal recessive K14 Autosomal recessive cutis laxa type 2 Centripetalis recessive dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa pruriginosa RIN2 syndrome Punctate palmoplantar keratoderma Schöpf-Schulz-Passarge syndrome Hidrotic ectodermal dysplasia, Christianson-Fourie type Epidermolysis bullosa simplex with anodontia/hypodontia Focal facial dermal dysplasia type I Non-epidermolytic palmoplantar keratoderma Hereditary painful callosities Haim-Munk syndrome Focal acral hyperkeratosis Acrokeratosis verruciformis of Hopf Epidermolysis bullosa simplex Disseminated superficial actinic porokeratosis Autosomal dominant epidermolytic ichthyosis Lamellar ichthyosis Erythrokeratodermia variabilis Diffuse palmoplantar keratoderma with painful fissures Severe dermatitis-multiple allergies-metabolic wasting syndrome Rothmund-Thomson syndrome type 1 Focal palmoplantar keratoderma with joint keratoses Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome LOC syndrome Focal facial dermal dysplasia type IV Primary non-essential cutis verticis gyrata Generalized peeling skin syndrome Peeling skin syndrome type A Palmoplantar keratoderma-sclerodactyly syndrome Peeling skin syndrome type C Keratosis palmaris et plantaris-clinodactyly syndrome Isolated diffuse palmoplantar keratoderma Multiple benign circumferential skin creases on limbs Recessive X-linked ichthyosis Mal de Meleda Hypopigmentation-punctate palmoplantar keratoderma syndrome Epidermolysis bullosa simplex with circinate migratory erythema KID syndrome Lethal acantholytic epidermolysis bullosa Epidermolysis bullosa simplex with pyloric atresia Keratoderma hereditarium mutilans Transgrediens et progrediens palmoplantar keratoderma Autosomal dominant palmoplantar keratoderma and congenital alopecia Disease with diffuse palmoplantar keratoderma as a major feature Hereditary palmoplantar keratoderma Ichthyosis-hypotrichosis syndrome Focal dermal hypoplasia Anti-p200 pemphigoid Pemphigus foliaceus Dermatitis herpetiformis Absence of fingerprints-congenital milia syndrome Focal palmoplantar and gingival keratoderma Dyskeratosis congenita Junctional epidermolysis bullosa, non-Herlitz type Recessive dystrophic epidermolysis bullosa, generalized intermediate Pseudoxanthoma elasticum Striate palmoplantar keratoderma Epidermolysis bullosa simplex with muscular dystrophy Hidrotic ectodermal dysplasia, Halal type Wrinkly skin syndrome Familial benign chronic pemphigus Marginal papular palmoplantar keratoderma Isolated punctate palmoplantar keratoderma Keratosis follicularis spinulosa decalvans Skin fragility-woolly hair-palmoplantar keratoderma syndrome Dystrophic epidermolysis bullosa Peeling skin syndrome Exfoliative ichthyosis Hyperkeratosis-hyperpigmentation syndrome Erythrokeratoderma ''en cocardes'' Progressive symmetric erythrokeratodermia Woolly hair-palmoplantar keratoderma syndrome Bullous dystrophy, macular type Focal facial dermal dysplasia Autosomal recessive palmoplantar keratoderma and congenital alopecia Focal facial dermal dysplasia type II Kindler syndrome Primary essential cutis verticis gyrata Acral peeling skin syndrome Hereditary sclerosing poikiloderma, Weary type Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Peeling skin syndrome type B Diffuse palmoplantar keratoderma-acrocyanosis syndrome Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Hereditary benign intraepithelial dyskeratosis Superficial pemphigus Acquired epidermolysis bullosa Congenital lethal erythroderma Diffuse palmoplantar keratoderma Erythrokeratoderma variabilis progressiva Superficial epidermolytic ichthyosis Suprabasal epidermolysis bullosa simplex Harlequin ichthyosis Basal epidermolysis bullosa simplex Epidermolysis bullosa simplex due to plakophilin deficiency Acral dystrophic epidermolysis bullosa Dominant dystrophic epidermolysis bullosa, nails only Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Acrokeratoderma Porokeratosis Autosomal recessive isolated diffuse palmoplantar keratoderma Pemphigus erythematosus Herpetiform pemphigus Bullous pemphigoid Pemphigus vulgaris Darier disease Pemphigoid gestationis Mucous membrane pemphigoid Linear IgA dermatosis Paraneoplastic pemphigus

Provided care options 0

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7.8589634512601148.00812075Zentrum für Fragile Haut und Epidermolysis bullosa am Universitätsklinikum Freiburg
Last updated: 15.11.2019