{"orpha":79410,"name":"Localized dystrophic epidermolysis bullosa, pretibial form","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["DEB-Pt","Localized DEB, pretibial form"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79410/","orphanet_url":"https://www.orpha.net/en/disease/detail/79410","names":{"fr":{"name":"Epidermolyse bulleuse dystrophique localisée, forme prétibiale","synonyms":["EBD localisée, forme prétibiale"],"definition":"Forme d'épidermolyse bulleuse dystrophique localisée, caractérisée par la formation de bulles, d'érosions et de lésions lichénoïdes principalement au niveau du compartiment antérieur de la partie inférieure des jambes (régions prétibiales et pieds), des mains et des ongles. Les lésions isolées, dont l'aspect est généralement similaire à celui de papules et de plaques, sont souvent violacées et on observe parfois un prurit. Lorsqu'elles se résorbent, les bulles laissent des cicatrices hypertrophiques et des grains de milium. La dystrophie des ongles des mains et des pieds est un signe caractéristique de la maladie."},"de":{"name":"Epidermolysis bullosa, dystrophe lokalisierte, prätibiale Form","synonyms":["DEB-Pt","Lokalisierte DEB, prätibiale Form"],"definition":"Ein Subtyp der lokalisierten dystrophen Epidermolysis bullosa, die durch die Entwicklung von Blasen, Erosionen und lichenoiden Läsionen vorwiegend an den vorderen Unterschenkeln (Schamlippenbereich und Füße), den Händen und Nägeln gekennzeichnet ist. Einzelne Läsionen, die in der Regel papulös oder plaqueartig sind, sind oft violett gefärbt. Juckreiz ist möglich. Die Abheilung der Blasen ist mit hypertropher Narbenbildung und Milienbildung verbunden. Charakteristisch ist die Dystrophie der Finger- und Zehennägel."},"es":{"name":"Epidermólisis ampollosa distrófica localizada forma pretibial","synonyms":["DEB localizada, forma pretibial","Epidermólisis bullosa distrófica localizada forma pretibial"],"definition":"Es una forma localizada de epidermólisis ampollosa distrófica que se caracteriza por la formación de ampollas, erosiones y lesiones liquenoides predominantemente en la parte anterior de las piernas (áreas pretibiales y pies), las manos y las uñas. Las lesiones individuales, que tienden a ser papulares o tipo placas, son a menudo violáceas. Es posible que se presente con prurito. La curación de las ampollas se asocia con la formación de cicatrices hipertróficas y milia. Es característica la distrofia de las uñas de manos y pies."},"it":{"name":"Epidermolisi bollosa distrofica localizzata, forma pretibiale","synonyms":["DEB localizzata forma pretibiale","DEB-Pt"],"definition":"Si tratta di una forma di epidermolisi bollosa distrofica localizzata, caratterizzata da vesciche, erosioni e lesioni lichenoidi localizzate prevalentemente nella porzione anteriore delle gambe (aree pretibiali e piedi), sulle mani e sulle unghie. Le singole lesioni, che tendono ad essere papulari o simili a placche, spesso sono di colore violaceo. I pazienti possono presentare prurito. Guarendo le vesciche lasciano cicatrici ipertrofiche e milia. È caratteristica la distrofia delle unghie delle mani e dei piedi."},"nl":{"name":"Gelokaliseerde dystrofische epidermolysis bullosa, pretibiale vorm","synonyms":["DEB-Pt","Gelokaliseerde DEB, pretibiale vorm"],"definition":"Een vorm van gelokaliseerde dystrofische epidermolysis bullosa, gekenmerkt door de ontwikkeling van blaren, erosies, en lichenoïde laesies, hoofdzakelijk op anterieure delen van onderbenen (pretibiale gebieden en voeten), handen en nagels. Individuele laesies, die meestal papulair of plaque-achtig zijn, zijn vaak violetkleurig. Pruritus is mogelijk. Genezing van de blaren is geassocieerd met vorming van hypertrofische littekens en milia. Dystrofie van zowel vinger- als teennagels is kenmerkend."},"pt":{"name":"Epidermólise bolhosa distrófica localizada, forma pré-tibial","synonyms":["DEB localizada, forma pré-tibial"],"definition":"Forma de epidermólise bolhosa distrófica localizada, caracterizada pelo desenvolvimento de bolhas, erosões e lesões liquenóides, predominantemente na região anterior das pernas (áreas pré-tibiais e pés), mãos e unhas. Lesões individuais, que tendem a ser papulares ou semelhantes a placas, são frequentemente violáceas. Poderá ocorrer prurido. A cicatrização das bolhas está associada a cicatrizes hipertróficas e formação de mília. A distrofia das unhas das mãos e dos pés é característica."},"pl":{"name":"Pęcherzowe oddzielanie się naskórka dystroficzne zlokalizowane, forma przedpiszczelowa","synonyms":["DEB-Pt","Localized DEB, pretibial form"]},"cs":{"name":"Pretibiální dystrofická epidermolysis bullosa","synonyms":["DEB-Pt","Pretibiální DEB"]},"uk":{"name":"Локалізований дистрофічний бульозний епідермоліз, претібіальний","synonyms":["ДБЕ-Pt","Локалізований ДБЕ, претибіальна форма"],"definition":"A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic."},"zh":{"name":"胫前性营养不良性大疱性表皮松解症","synonyms":["胫前性DEB"]},"tr":{"name":"Pretibial distrofik epidermolizis bülloza","synonyms":["DEB-Pt","Pretibial DEB"]}},"xrefs":[{"source":"OMIM","code":"131850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q81.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC32","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"459923643"},{"source":"MONDO","code":"0007552","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432321","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2155","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":595356,"name":"Localized dystrophic epidermolysis bullosa","classifications":[147,152,156,187,233]}],"children":[],"genes":[{"symbol":"COL7A1","name":"collagen type VII alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":null,"hgnc":"2214","ensembl":"ENSG00000114270","omim":"120120","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-22","source":"20301481[PMID]_8245264[PMID]_29267469[PMID]_24690439[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012221","label":"Pretibial blistering","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001798","label":"Anonychia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001030","label":"Fragile skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007446","label":"Palmoplantar blistering","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004057","label":"Mitten deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200097","label":"Oral mucosal blisters","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200041","label":"Skin erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012252","label":"Abnormal respiratory system morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001965","label":"Abnormality of the scalp","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002671","label":"Basal cell carcinoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0012056","label":"Cutaneous melanoma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031464","label":"Genital blistering","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002860","label":"Squamous cell carcinoma","frequency":"Excluded (0%)","criteria":null}]}}