{"orpha":79150,"name":"Linear and whorled nevoid hypermelanosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LWNH"],"definition":"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79150/","orphanet_url":"https://www.orpha.net/en/disease/detail/79150","names":{"fr":{"name":"Hypermélanose naevoïde linéaire et convolutée","synonyms":["HNLC","Hypermélanose naevoïde linéaire et circulaire","Hypermélanose naevoïde linéaire et spiralée","LWNH"],"definition":"Hyperpigmentation cutanée rare caractérisée par l'apparition congénitale/infantile d'une hyperpigmentation maculaire bilatérale, diffuse (parfois localisée), réticulée (convolutée et striée), le long de lignes de Blaschko, touchant typiquement le tronc, les membres, la tête et le cou (mais épargnant les paumes des mains, les plantes des pieds et les muqueuses), en l'absence d'inflammation, de cloques ou d'atrophie préalables. Occasionnellement, des anomalies extracutanées, notamment l'autisme, des convulsions, des anomalies cardiaques, des anomalies squelettiques et un retard de développement, peuvent être associées. L'examen histologie met en évidence une mélanose affectant la couche basale et/ou suprabasale, en l'absence d'incontinence pigmentaire."},"de":{"name":"Hypermelanose, nävoide, streifen- und wirbelförmige","synonyms":["LWNH"],"definition":"Eine seltene Hyperpigmentierung der Haut, die sich im Säuglingsalter oder in der frühen Kindheit manifestiert. Sie ist gekennzeichnet durch eine bilaterale, diffuse (gelegentlich lokalisierte), netzartige (Wirbel und Streifen) makuläre Hyperpigmentierung, die den Blaschko-Linien folgt und typischerweise den Rumpf, die Gliedmaßen, den Kopf und den Nacken (jedoch ohne Handflächen, Fußsohlen und Schleimhäute) betrifft, ohne dass eine Entzündung, Blasenbildung oder Atrophie vorausgeht. Gelegentlich können extrakutane Anomalien, einschließlich Autismus, Krampfanfälle, Herzfehler, Skelettanomalien und Entwicklungsverzögerungen, auftreten. Histologisch wird eine basale und/oder suprabasale Melanose ohne Pigmentinkontinenz beobachtet."},"es":{"name":"Hipermelanosis nevoide lineal y en espiral","synonyms":["LWNH"],"definition":"Es una hiperpigmentación de la piel poco frecuente, congénita o de inicio en el periodo de lactancia, caracterizada por hiperpigmentación macular, reticular (con disposición en líneas y remolinos), difusa (ocasionalmente localizada) y bilateral, siguiendo las líneas de Blaschko, y afectando típicamente al tronco, las extremidades, la cabeza y el cuello (pero respetando las palmas de las manos, plantas de los pies y mucosas), sin inflamación, formación de ampollas o atrofia previas. Ocasionalmente, puede asociar anomalías extracutáneas, tales como autismo, convulsiones, defectos cardíacos, anomalías esqueléticas y retraso del desarrollo. Histológicamente se observa melanosis basal y/o suprabasal sin incontinencia pigmentaria."},"it":{"name":"Ipermelanosi nevoide lineare e a spirale","definition":"È un'iperpigmentazione rara della cute, caratterizzata da iperpigmentazione maculare, congenita o ad esordio infantile, bilaterale, diffusa (solo occasionalmente localizzata), reticolata (vortici e striature), localizzata lungo le linee di Blaschko. Di solito interessa il tronco, gli arti, la testa e il collo (risparmiando il palmo delle mani, la pianta dei piedi, e le mucose), in assenza di pregressa infiammazione, vesciche o atrofia. Occasionalmente, si associa ad anomalie extracutanee, compreso l'autismo, le crisi epilettiche, le cardiopatie, le anomalie scheletriche e il ritardo dello sviluppo. Gli esami istologici evidenziano una melanosi basale e/o soprabasale, in assenza di incontinentia pigmenti."},"nl":{"name":"Lineaire en spiraalvormige naevoïde hypermelanose","synonyms":["LWNH"],"definition":"Een zeldzame huidziekte met hyperpigmentatie die gekarakteriseerd wordt door congenitale tot infantiel aanvangende, bilaterale, diffuse (soms gelokaliseerde), reticulaire (met wervelingen en strepen), maculaire hyperpigmentatie langs de lijnen van Blaschko, doorgaans met betrokkenheid van romp, ledematen, hoofd en nek/hals (terwijl handpalmen, voetzolen en slijmvliezen gespaard blijven), zonder voorafgaande inflammatie, blaarvorming of atrofie. Occasioneel kunnen extracutane afwijkingen geassocieerd zijn, waaronder autisme, insulten, hartdefecten, skeletanomalieën en ontwikkelingsachterstand. Histologisch wordt basale en/of suprabasale melanose waargenomen, zonder pigmentincontinentie."},"pt":{"name":"Hipermelanose nevóide linear e espiral"},"pl":{"name":"Linear and whorled nevoid hypermelanosis","synonyms":["LWNH"]},"cs":{"name":"Progresivní kribriformní a zosteriformní hyperpigmentace","synonyms":["Lineární a vírovitá névoidní hypermelanóza"]},"uk":{"name":"Лінійний та звивистий невоїдний гіпермеланоз","synonyms":["LWNH"],"definition":"A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed."},"zh":{"name":"线状和旋涡状痣样过度黑素沉着病","synonyms":["LWNH"]},"tr":{"name":"Lineer ve kıvrımlı nevoid hipermelanoz","synonyms":["LWNH"]}},"xrefs":[{"source":"OMIM","code":"614323","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L81.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC23.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1466172046"},{"source":"MONDO","code":"0013688","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1304501","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"17542865[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"17542865[PMID]_ORPHANET"}],"phenotypes":null}