{"orpha":464,"name":"Incontinentia pigmenti","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bloch-Siemens syndrome","Bloch-Sulzberger syndrome"],"definition":"An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-464/","orphanet_url":"https://www.orpha.net/en/disease/detail/464","names":{"fr":{"name":"Incontinentia pigmenti","synonyms":["Syndrome de Bloch-Siemens","Syndrome de Bloch-Sulzberger"],"definition":"Dysplasie ectodermique mutisystémique syndromique liée à l'X se présentant en période néonatale chez les femmes avec une éruption bulleuse le long des lignes de Blaschko (LB) suivie de plaques verruqueuses et de motifs tourbillonnants hyperpigmentés. Elle se caractérise également par des anomalies dentaires, une alopécie, une dystrophie des ongles et peut affecter la microvasculature de la rétine et du système nerveux central (SNC). Elle peut présenter d'autres aspects de la dysplasie ectodermique, comme des anomalies des glandes sudoripares. Les variants pathogènes germinaux chez les individus de sexe masculin entraînent une létalité embryonnaire."},"de":{"name":"Incontinentia pigmenti","synonyms":["Bloch-Siemens-Syndrom","Bloch-Sulzberger-Syndrom"],"definition":"Eine X-chromosomal-dominant vererbte syndromale multisystemische Dysplasie des Ektoderms. Sie manifestiert sich bei neugeborenen Mädchen mit einem bullösen Exanthem entlang der Blashko-Linien (BL), gefolgt von verrukösen Plaques, die sich im Verlauf in hyperpigmentierte wirbelartige Muster weiterentwickeln. Weitere charakteristische Symptome sind: Zahnanomalien, Alopezie, Nageldystrophie und gelegentlich Veränderungen der Retina und des Zentralnervensystems (ZNS). Keimbahnpathogene Varianten bei Männern führen zu embryonaler Letalität."},"es":{"name":"Incontinencia pigmentaria","synonyms":["Síndrome de Bloch-Siemens","Síndrome de Bloch-Sulzberger"],"definition":"Es una displasia ectodérmica multisistémica, sindrómica y ligada al cromosoma X, que se presenta en mujeres en forma de una erupción ampollosa que sigue las líneas de Blaschko (LB) seguida de placas verrugosas que evolucionan con el tiempo a unas máculas hiperpigmentadas de disposición arremolinada. Se caracteriza asimismo por presentar anomalías dentarias, alopecia y distrofia ungueal, pudiendo afectar a la microvasculatura de la retina y del sistema nervioso central (SNC). También puede presentar otros rasgos de una displasia ectodérmica, como anomalías de las glándulas sudoríparas. Las variantes patogénicas de la línea germinal en los varones resultan en letalidad embrionaria."},"it":{"name":"Incontinentia pigmenti","synonyms":["Sindrome di Bloch-Siemens","Sindrome di Bloch-Sulzberger"],"definition":"L'incontinentia pigmenti (IP) è una displasia ectodermica multisistemica sindromica legata all'X, che esordisce nelle femmine nel periodo neonatale con un'eruzione bollosa lungo le linee di Blaschko, seguita da placche verrucose e da aree iperpigmentate a spirale. I pazienti presentano anche anomalie dei denti, alopecia e distrofia ungueale. La malattia può interessare anche il microcircolo della retina e del sistema nervoso centrale (SNC). I pazienti possono presentare altri segni clinici caratteristici della displasia ectodermica, come le anomalie delle ghiandole sudoripare. Nei maschi, le varianti patogenetiche della linea geminale causano la morte dell'embrione."},"nl":{"name":"Incontinentia pigmenti","synonyms":["Syndroom van Bloch-Siemens","Syndroom van Bloch-Sulzberger"],"definition":"Een X-gebonden, syndromale, multi-systemische ectodermale dysplasie die zich bij vrouwen neonataal presenteert met een bulleuze huiduitslag langs de lijnen van Blaschko (BL), gevolgd door wratachtige plaques en hypergepigmenteerde wervelende patronen. verder wordt het gekarakteriseerd door tandafwijkingen, alopecie en nageldystrofie, en kan de microvasculatuur van retina en centraal zenuwstelsel (CZS) aangetast worden. Het kan andere aspecten van ectodermale dysplasie vertonen, zoals anomalieën van zweetklieren. Pathogene varianten in de kiembaan veroorzaken bij mannen embryonale letaliteit."},"pt":{"name":"Incontinência pigmentar","synonyms":["Síndrome Bloch-Sulzberger"]},"pl":{"name":"Nietrzymanie barwnika","synonyms":["Zespół Blocha i Simonsa","Zespół Blocha i Sulzbergera"],"definition":"Syndromiczna wieloukładowa dysplazja ektodermalna sprzężona z chromosomem X, objawiająca się w okresie noworodkowym u kobiet wysypką pęcherzową wzdłuż linii Blaschki, która ewoluuje we brodawkowate płytki i nadmiernie pigmentowane zmiany o charakterze wirów. Ponadto mogą występować nieprawidłowości w uzębieniu, łysienie, dystrofia paznokci oraz w mikrokrążeniu siatkówki i ośrodkowego układu nerwowego. Mogą wystąpić inne cechy dysplazji ektodermalnej, np. nieprawidłowości gruczołów potowych. Germinalne mutacje u płci męskiej mają charakter letalny."},"cs":{"name":"Incontinentia pigmenti","synonyms":["Blochův-Siemensův syndrom","Blochův-Sulzbergerův syndrom","Bloch-Siemensův syndrom","Bloch-Sulzbergerův syndrom"]},"uk":{"name":"Нетримання пігменту","synonyms":["Синдром Блоха-Сіменса","Синдром Блоха-Сульцбергера"],"definition":"An X-linked syndromic muti-systemic ectodermal dysplasia presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal dysplasia such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality."},"zh":{"name":"色素失调症","synonyms":["Bloch-Sulzberger综合征"]},"tr":{"name":"İnkontinensiya pigmenti","synonyms":["Bloch-Siemens sendromu","Bloch-Sulzberger sendromu"]}},"xrefs":[{"source":"OMIM","code":"308300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD27.00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1542530268"},{"source":"MONDO","code":"0010631","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0021171","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6778","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077624","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":166466,"name":"Neurocutaneous syndrome with epilepsy","classifications":[156,181]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":717868,"name":"Rare skin disease with inflammatory bowel disease","classifications":[152,156,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"IKBKG","name":"inhibitor of nuclear factor kappa B kinase regulatory subunit gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301645[PMID]","hgnc":"5961","ensembl":"ENSG00000269335","omim":"300248","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"United States","status":"Validated","source":"[EXPERT]_Texas Birth Defect OTHERistry[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-02","source":"20301645[PMID]_39389657[PMID]_30660327[PMID]_32678511[PMID]_24961275[PMID]","terms":[{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033605","label":"Pustular rash","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012500","label":"Verrucous papule","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0033697","label":"Vesicular eruption","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000680","label":"Delayed eruption of primary teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031093","label":"Abnormal breast morphology","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004404","label":"Abnormal nipple morphology","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000698","label":"Conical tooth","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011079","label":"Impacted tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001805","label":"Onychogryphosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0030666","label":"Retinal neovascularization","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002224","label":"Woolly hair","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"}]}}