{"orpha":79145,"name":"Dowling-Degos disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Reticular pigment anomaly of flexures"],"definition":"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79145/","orphanet_url":"https://www.orpha.net/en/disease/detail/79145","names":{"fr":{"name":"Maladie de Dowling-Degos","synonyms":["Dermatose réticulée des plis"],"definition":"Hyperpigmentation cutanée génétique rare caractérisée par l'apparition, à l'âge adulte, de papules hyperkératosiques réticulaires, allant de brun rougeâtre à brun foncé, hyperkératosiques, de type maculaire et/ou comédonien, avec des macules hypopigmentées, affectant principalement les zones de flexion et progressant parfois vers le tronc et les zones acrales. Une acanthose épidermique, des crêtes épidermiques fines et ramifiées, ainsi qu'une tendance à l'acantholyse et à l'incontinence pigmentaire s'observent à l'examen histologique."},"de":{"name":"Dowling-Degos-Krankheit","synonyms":["Retikuläre Pigmentdermatose der Intertrigines"],"definition":"Eine seltene, genetisch bedingte Hyperpigmentierung der Haut, bei der im Erwachsenenalter retikuläre, rötlich-braune bis dunkelbraune, makuläre und/oder komedonenartige, hyperkeratotische Papeln mit hypopigmentierten Makulae auftreten, die vorwiegend die Beugeseiten betreffen und gelegentlich auch auf den Rumpf und die Akren übergreifen. Histologisch werden epidermale Akanthose, dünne, verzweigte Rete-Kämme und eine Tendenz zur Akantholyse und Pigmentinkontinenz beobachtet."},"es":{"name":"Enfermedad de Dowling-Degos","synonyms":["Pigmentación reticular anómala en las flexuras","Pigmentación reticular anómala en los pliegues de flexión"],"definition":"Es una hiperpigmentación cutánea de origen genético y poco frecuente de inicio en la edad adulta, caracterizada por la aparición de pápulas hiperqueratósicas reticulares, maculares y/o similares a comedones, de color marrón rojizo a marrón oscuro, con máculas hipopigmentadas que afectan predominantemente a las áreas de flexión y que en ocasiones progresan hasta afectar al tronco y las regiones acrales. Histológicamente se observa acantosis epidérmica, crestas epiteliales adelgazadas y ramificadas, y tendencia a la acantolisis e incontinencia pigmentaria."},"it":{"name":"Malattia di Dowling-Degos","synonyms":["Disturbo reticolare della pigmentazione delle pieghe di flessione"],"definition":"È un'iperpigmentazione genetica rara della cute, che esordisce nell'età adulta con papule ipercheratosiche reticolari, maculari e/o simil-comedoni, di colore rossastro-bruno o marrone scuro, associate a macule ipopigmentate, localizzate per lo più sulle aree flessorie, che occasionalmente progrediscono interessando il tronco e le regioni acrali. Gli esami istologici evidenziano acantosi epidermica, creste epiteliali sottili simili a rami, tendenza all'acantolisi ed incontinenza pigmentaria."},"nl":{"name":"Ziekte van Dowling-Degos","synonyms":["Reticulaire pigmentanomalie van flexuren"],"definition":"Een zeldzame, genetische huidziekte met hyperpigmentatie die gekarakteriseerd wordt door aanvang in de volwassenheid van reticulaire, roodbruine tot donkerbruine, maculaire en/of comedo (mee-eter)-achtige, hyperkeratotische papels met gehypopigmenteerde maculae, die voornamelijk de flexiegebieden treft en soms evolueert naar betrokkenheid van de romp en acrale delen. Histologisch worden epidermale acanthose, dunne en vertakte retelijsten, en een aanleg voor acantholyse en incontinentia pigmenti (pigmentincontinentie) waargenomen."},"pt":{"name":"Doença de Dowling-Degos","synonyms":["Acropigmentação reticulada de Kitamura","Anomalia pigmentar reticular das regiões de flexão","Doença de Dowling-Degos-Kitamura"]},"pl":{"name":"Choroba Dowlinga i Degosa","synonyms":["Siateczkowata barwnikowa anomalia powierzchni zgięciowych"]},"cs":{"name":"Dowlingova-Degosova nemoc","synonyms":["Retikulární pigmentové anomálie flexorů","Dowling-Degosova nemoc"]},"uk":{"name":"Хвороба Даулінга-Дегоса","synonyms":["Ретикулярна пігментна аномалія згиначів"],"definition":"A rare, genetic, hyperpigmentation of the skin disease characterized by adulthood-onset of reticular, reddish-brown to dark-brown, macular and/or comedone-like, hyperkeratotic papules with hypopigmented macules, predominantly affecting flexural areas and, on occasion, progressing to involve trunk and acral regions. Histologically, epidermal acanthosis, thin, branch-like, rete ridges, and a tendency for acantholysis and pigmentary incontinence is observed."},"zh":{"name":"Dowling-Degos病","synonyms":["屈侧网状色素异常"]},"tr":{"name":"Dowling-Degos hastalığı","synonyms":["Fleksuraların retiküler pigment anomalisi"]}},"xrefs":[{"source":"OMIM","code":"179850","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"615327","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615674","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615696","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"15123132"},{"source":"MONDO","code":"0008371","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562924","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3714534","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9775","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068651","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","classifications":[156,187]},{"orpha":309505,"name":"Disorder of fucoglycosan synthesis","classifications":[150,156]},{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[{"symbol":"KRT5","name":"keratin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16465624[PMID]","hgnc":"6442","ensembl":"ENSG00000186081","omim":"148040","loci":["12q13.13"]},{"symbol":"POFUT1","name":"protein O-fucosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23684010[PMID]","hgnc":"14988","ensembl":"ENSG00000101346","omim":"607491","loci":["20q11.21"]},{"symbol":"POGLUT1","name":"protein O-glucosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24387993[PMID]","hgnc":"22954","ensembl":"ENSG00000163389","omim":"615618","loci":["3q13.33"]},{"symbol":"PSENEN","name":"presenilin enhancer, gamma-secretase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28287404[PMID]","hgnc":"30100","ensembl":"ENSG00000205155","omim":"607632","loci":["19q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-30","source":"30285365[PMID]_33368260[PMID]","terms":[{"hpo":"HP:0007456","label":"Progressive reticulate hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030052","label":"Inguinal freckling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040154","label":"Acne inversa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031293","label":"Digital pitting scar","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030350","label":"Erythematous papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045059","label":"Hyperkeratotic papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001034","label":"Hypermelanotic macule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025473","label":"Hyperpigmented papule","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031447","label":"Penile freckling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012855","label":"Scrotal hyperpigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030442","label":"Anal margin squamous cell carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200040","label":"Epidermoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011354","label":"Generalized abnormality of skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0020073","label":"Hypopigmented macule","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031525","label":"Keratoacanthoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009123","label":"Mixed hypo- and hyperpigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010610","label":"Palmar pits","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200037","label":"Skin vesicle","frequency":"Very rare (<4-1%)","criteria":null}]}}