Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system.Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis.[2] The skin lesions evolve through characteristic stages:[citation needed] Alopecia, dental anomalies, and dystrophic nails are observed.[citation needed] Neurological problems can include cerebral atrophy, the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex.Skeletal and structural anomalies can occur in approximately 14% of patients, including:[citation needed] IP is inherited in an X-linked dominant manner.[citation needed] In females, the cells expressing the mutated IKBKG gene due to lyonization selectively die around the time of birth, so the X-inactivation is extremely skewed.
Incontinentia pigmenti forming along Blaschko's lines in a three-year-old girl
Incontinentia pigmenti achromiansX-linked dominantSpecialtyMedical geneticsgenetic disorderTNF-alphaapoptosisBlaschko's linesskin lesionsblisteringhyperpigmentationhypopigmentationAlopeciaretinal detachmentintellectual disabilitymelaninpigmentextremitiescerebral atrophyneuronscerebellar cortexmotor developmentcrossed eyescataractshypodontiatooth eruptionhypoplasiasupernumerary nipplesHemivertebraeScoliosisSpina bifidaSyndactylyAcheiriacongenitalmosaicismGenetic counselingpreimplantation genetic diagnosislyonizationskewedNF-κBgenetic testingMarion SulzbergerList of cutaneous conditionsList of radiographic findings associated with cutaneous conditionsList of dental abnormalities associated with cutaneous conditionsBibcodeWho Named It?DiseasesDBMedlinePluseMedicineGeneReviewsRadiopaediaOrphanetintegumentskin diseaseGenodermatosisCongenital ichthyosiserythrokeratodermiaIchthyosis vulgarisCongenital ichthyosiform erythrodermaEpidermolytic hyperkeratosisLamellar ichthyosisHarlequin-type ichthyosisNetherton syndromeCHIME syndromeSjögren–Larsson syndromeX-linked ichthyosisIchthyosis bullosa of SiemensIchthyosis follicularisIchthyosis prematurity syndromeIchthyosis–sclerosing cholangitis syndromeNonbullous congenital ichthyosiform erythrodermaIchthyosis linearis circumflexaIchthyosis hystrixEBS-WCEBS-DMEBS-OGEBS-MDEBS-MPGeneralized atrophicJEB-PACostello syndromeKindler syndromeLaryngoonychocutaneous syndromeSkin fragility syndromeEctodermal dysplasiaNaegeli syndromeDermatopathia pigmentosa reticularisHay–Wells syndromeHypohidrotic ectodermal dysplasiaFocal dermal hypoplasiaEllis–van Creveld syndromeRapp–Hodgkin syndromeElasticConnectiveEhlers–Danlos syndromeCutis laxaGerodermia osteodysplasticaPopliteal pterygium syndromePseudoxanthoma elasticumVan der Woude syndromeHyperkeratosiskeratinopathydiffuseDiffuse epidermolytic palmoplantar keratodermaDiffuse nonepidermolytic palmoplantar keratodermaPalmoplantar keratoderma of SybertMeleda diseaseconnexinBart–Pumphrey syndromeClouston's hidrotic ectodermal dysplasiaVohwinkel syndromeCorneodermatoosseous syndromeplakoglobinNaxos syndromeScleroatrophic syndrome of HuriezOlmsted syndromeCathepsin CPapillon–Lefèvre syndromeHaim–Munk syndromeCamisa diseaseFocal palmoplantar keratoderma with oral mucosal hyperkeratosisFocal palmoplantar and gingival keratosisHowel–Evans syndromePachyonychia congenitaPachyonychia congenita type IPachyonychia congenita type IIStriate palmoplantar keratodermaTyrosinemia type IIpunctateAcrokeratoelastoidosis of CostaFocal acral hyperkeratosisKeratosis punctata palmaris et plantarisKeratosis punctata of the palmar creasesSchöpf–Schulz–Passarge syndromePorokeratosis plantaris discretaSpiny keratodermaPalmoplantar keratoderma and spastic paraplegiadesmoplakinCarvajal syndromeErythrokeratodermia variabilisKeratosis pilarisATP2A2Darier's diseaseDyskeratosis congenitaLelis syndromeKeratolytic winter erythemaKeratosis follicularis spinulosa decalvansKeratosis linearis with ichthyosis congenita and sclerosing keratoderma syndromeKeratosis pilaris atrophicans facieicadherinEEM syndromeimmune systemHereditary lymphedemaMastocytosisUrticaria pigmentosaHailey–HaileyDermoid cystEncephaloceleNasal gliomaPHACE associationSinus pericraniiCapillary hemangiomaPort-wine stainNevus flammeus nuchaeAplasia cutis congenitaAmniotic band syndromeBranchial cystCavernous venous malformationAccessory nail of the fifth toeBronchogenic cystCongenital cartilaginous rest of the neckCongenital hypertrophy of the lateral fold of the halluxCongenital lip pitCongenital malformations of the dermatoglyphsCongenital preauricular fistulaCongenital smooth muscle hamartomaCystic lymphatic malformationMedian raphe cystMelanotic neuroectodermal tumor of infancyMongolian spotNasolacrimal duct cystOmphalomesenteric duct cystPoland anomalyRapidly involuting congenital hemangiomaRosenthal–Kloepfer syndromeSkin dimpleSuperficial lymphatic malformationThyroglossal duct cystVerrucous vascular malformationBirthmarkPhakomatosisAngiomatosisSturge–Weber syndromeVon Hippel–Lindau diseaseHamartomaTuberous sclerosisHypothalamic hamartomaPallister–Hall syndromeMegalencephalyMultiple hamartoma syndromeProteus syndromeCowden syndromeBannayan–Riley–Ruvalcaba syndromeLhermitte–Duclos diseaseNeurofibromatosisType IType IIAbdallat–Davis–Farrage syndromeAtaxia telangiectasiaPeutz–Jeghers syndromeEncephalocraniocutaneous lipomatosisX-linkedX-linked recessiveImmuneChronic granulomatous disease (CYBB)Wiskott–Aldrich syndromeX-linked severe combined immunodeficiencyX-linked agammaglobulinemiaHyper-IgM syndrome type 1X-linked lymphoproliferative diseaseProperdin deficiencyHematologicHaemophilia AHaemophilia BX-linked sideroblastic anemiaEndocrineAndrogen insensitivity syndromeSpinal and bulbar muscular atrophyKAL1 Kallmann syndromeX-linked adrenal hypoplasia congenitaMetabolicAmino acidOrnithine transcarbamylase deficiencyOculocerebrorenal syndromeDyslipidemiaAdrenoleukodystrophyCarbohydrate metabolismGlucose-6-phosphate dehydrogenase deficiencyPyruvate dehydrogenase deficiencyDanon disease/glycogen storage disease Type IIbLipid storage disorderFabry diseaseMucopolysaccharidosisHunter syndromePurine–pyrimidine metabolismLesch–Nyhan syndromeMineralMenkes diseaseOccipital horn syndromeNervous systemX-linked intellectual disabilityCoffin–Lowry syndromeMASA syndromeAlpha-thalassemia mental retardation syndromeOcular albinismNorrie diseaseChoroideremiaCharcot–Marie–Tooth disease (CMTX2-3)Pelizaeus–Merzbacher diseaseHypohidrotic ectodermal dysplasia (EDA)X-linked endothelial corneal dystrophyNeuromuscularBecker muscular dystrophyDuchenneCentronuclear myopathy (MTM1)Conradi–Hünermann syndromeEmery–Dreifuss muscular dystrophy 1UrologicAlport syndromeDent's diseaseX-linked nephrogenic diabetes insipidusAMELX Amelogenesis imperfectaBarth syndromeMcLeod syndromeSmith–Fineman–Myers syndromeSimpson–Golabi–Behmel syndromeMohr–Tranebjærg syndromeNasodigitoacoustic syndromeX-linked hypophosphatemiaFragile X syndromeAicardi syndromeRett syndromeCHILD syndromeLujan–Fryns syndromeOrofaciodigital syndrome 1Craniofrontonasal dysplasiaGTP-binding protein regulatorsGTPase-activating proteinNeurofibromatosis type IWatson syndromeGuanine nucleotideexchange factorMarinesco–Sjögren syndromeAarskog–Scott syndromeJuvenile primary lateral sclerosisX-linked intellectual disability 1G proteinHeterotrimeicPseudopseudohypoparathyroidismProgressive osseous heteroplasiaPseudohypoparathyroidismAlbright's hereditary osteodystrophyMcCune–Albright syndromeMonomericNoonan syndrome 3KRAS Cardiofaciocutaneous syndromeCharcot–Marie–Tooth diseaseCarpenter syndromeGriscelli syndrome type 2Neutrophil immunodeficiency syndromeChylomicron retention diseaseARL13BJoubert syndrome 8Bardet–Biedl syndrome 3MAP kinaseCardiofaciocutaneous syndromekinasephosphataseTyrosine kinaseZAP70 deficiencySerine/threoninekinaseRPS6KA3Coffin-Lowry syndromeLi–Fraumeni syndrome 2Myotonic dystrophy 1Seckel syndrome 1Oguchi disease 2Pseudohypoaldosteronism 2Tyrosine phosphataseProteus-like syndromeX-linked myotubular myopathyPTPN11Noonan syndrome 1LEOPARD syndromeMetachondromatosisSignal transducing adaptor proteinsEDARADDEDARADD Hypohidrotic ectodermal dysplasiaSH3BP2CherubismZaspopathyNeurofibromatosis type IINotch 3CADASILPRKAR1ACarney complexPRKAG2Wolff–Parkinson–White syndromePRKCSHPRKCSH Polycystic liver diseasePigmentation disordersDyschromialeucismmelanocytesVitiligoQuadrichrome vitiligoVitiligo ponctuéAlezzandrini syndromeVogt–Koyanagi–Harada syndromePiebaldismWaardenburg syndromeTietz syndromeamelanismAlbinismOculocutaneous albinismin humansMelanosomeHermansky–Pudlak syndromeChédiak–Higashi syndromeGriscelli syndromeElejalde syndromeGriscelli syndrome type 3Cross syndromeABCD syndromeAlbinism–deafness syndromeIdiopathic guttate hypomelanosisPhylloid hypomelanosisProgressive macular hypomelanosisLeukodermaVasospastic maculeWoronoff's ringNevus anemicusNevus depigmentosusPostinflammatory hypopigmentationPityriasis albaVagabond's leukomelanodermaYemenite deaf-blind hypopigmentation syndromeWende–Bauckus syndromeHyper-MelanosisMelanismPigmentatio reticularis faciei et colliReticulate acropigmentation of KitamuraReticular pigmented anomaly of the flexuresNaegeli–Franceschetti–Jadassohn syndromeX-linked reticulate pigmentary disorderGalli–Galli diseaseRevesz syndromeLentigoLentiginosisLentigo simplexLiver spotCentrofacial lentiginosisGeneralized lentiginosisInherited patterned lentiginosis in black personsInk spot lentigoLentigo malignaMucosal lentiginesPartial unilateral lentiginosisPUVA lentiginesMelasmaErythema dyschromicum perstansLichen planus pigmentosusCafé au lait spotPoikilodermaPoikiloderma of CivattePoikiloderma vasculare atrophicansRiehl melanosisScratch dermatitisShiitake mushroom dermatitisAcanthosis nigricansFreckleFamilial progressive hyperpigmentationPallister–Killian syndromePeriorbital hyperpigmentationPhotoleukomelanodermatitis of KoboriPostinflammatory hyperpigmentationTransient neonatal pustular melanosisHemochromatosisIron metallic discolorationPigmented purpuric dermatosisSchamberg diseaseMajocchi's diseaseGougerot–Blum syndromeDoucas and Kapetanakis pigmented purpuraEczematid-like purpura of Doucas and KapetanakisLichen aureusAngioma serpiginosumHemosiderin hyperpigmentationArgyriaChrysiasisArsenic poisoningLead poisoningTitanium metallic discolorationCarotenosisTar melanosisDyschromatosis symmetrica hereditariaDyschromatosis universalis hereditariaSkin colorSkin whiteningTanningSunlessTattooremovalDepigmentation