{"orpha":86920,"name":"Dermatopathia pigmentosa reticularis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86920/","orphanet_url":"https://www.orpha.net/en/disease/detail/86920","names":{"fr":{"name":"Dermatopathie réticulaire pigmentaire","definition":"Dysplasie ectodermique rare, d'origine génétique, caractérisée par une hyperpigmentation réticulée et généralisée, à début précoce, qui persiste tout au long de la vie et qui s'accompagne d'une alopécie non cicatricielle diffuse et légère, ainsi que d'une onychodystrophie. Aucune anomalie dentaire n'est rapportée. Les patients peuvent aussi présenter une adermatoglyphie, une hyperkératose palmoplantaire, des ampoules sur les zones dorsales et acrales et une hypohidrose ou une hyperhidrose."},"de":{"name":"Dermatopathia pigmentosa reticularis","definition":"Eine seltene, genetisch bedingte, ektodermale Dysplasie, die durch eine weit verbreitete, früh einsetzende, netzartige Hyperpigmentierung (die lebenslang anhält), eine leichte, diffuse, nicht narbige Alopezie und Onychodystrophie gekennzeichnet ist. Es gibt keine Zahnanomalien. Die Patienten können auch Adermatoglyphie, palmoplantare Hyperkeratose, akrale dorsale Blasenbildung und Hypohidrose oder Hyperhidrose aufweisen."},"es":{"name":"Dermatopatía pigmentosa reticularis","definition":"Es una displasia ectodérmica genética y poco frecuente caracterizada por una hiperpigmentación reticulada generalizada de inicio temprano que persiste a lo largo de la vida, ligera alopecia difusa no cicatricial y onicodistrofia. La enfermedad no se asocia con anomalías dentales. Los pacientes también pueden presentar adermatoglifia, hiperqueratosis palmoplantar, ampollas dorsales acrales e hipo- o hiperhidrosis."},"it":{"name":"Dermatopatia reticolare pigmentosa","definition":"È una displasia ectodermica genetica rara, caratterizzata da iperpigmentazione reticolare diffusa ad esordio precoce, che persiste per tutta la vita, associata ad alopecia non cicatriziale lieve diffusa e onicodistrofia. I pazienti non presentano anomalie dei denti, ma possono presentare assenza dei dermatoglifi, ipercheratosi palmoplantare, vesciche acrali dorsali e ipoidrosi o iperidrosi."},"nl":{"name":"Dermatopathia pigmentosa reticularis","definition":"Een zeldzame, genetische, ectodermale dysplasie gekarakteriseerd door een wijdverspreide, vroeg aanvangende, reticulaire hyperpigmentatie die levenslang aanhoudt, milde en diffuse niet-cicatriciële alopecie, en onychodystrofie. Er zijn geen gebitsanomalieën. Patiënten vertonen mogelijk ook adermatoglyfie, palmoplantaire hyperkeratose, acrale dorsale blaarvorming, en hypohidrose of hyperhidrose."},"pt":{"name":"Dermatopatia pigmentosa reticular"},"pl":{"name":"Dermopatia barwnikowo-siateczkowa"},"cs":{"name":"Dermopathia pigmentosa reticularis"},"uk":{"name":"Ретикулярна пігментна дерматопатія","definition":"A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis."},"zh":{"name":"网状色素性皮病"},"tr":{"name":"Dermatopati pigmentosa retikülaris"}},"xrefs":[{"source":"OMIM","code":"125595","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535374","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406778","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8550","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"KRT14","name":"keratin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16960809[PMID]","hgnc":"6416","ensembl":"ENSG00000186847","omim":"148066","loci":["17q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"27512211[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27512211[PMID]"}],"phenotypes":null}