58:
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gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis. Many people in the past were misdiagnosed with a
329:. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the effective ratio for liveborn children from a mother carrying the mutation is 33% unaffected females, 33% affected females, and 33% unaffected males.
112:
The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye
612:
The
International Incontinentia Pigmenti (IP) Consortium; Smahi, Asmae; Courtois, G; Vabres, P; Yamaoka, S; Heuertz, S; Munnich, A; Israël, A; Heiss, Nina S; Klauck, S. M; Kioschis, P; Wiemann, S; Poustka, A; Esposito, Teresa; Bardaro, T; Gianfrancesco, F; Ciccodicola, A; d'Urso, M; Woffendin,
113:
abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems. Most males with the disease do not survive to childbirth.
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IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline
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inherited and does not involve skin stages 1 or 2. Some 33–50% of patients have multisystem involvement—eye, skeletal, and neurological abnormalities. Its chromosomal locus is at Xp11, rather than Xq28.
710:
Bloch, B. (1926). "EigentĂĽmliche, bisher nicht beschriebene
Pigmentaffektion (incontinentia pigmenti)" [Peculiar, as yet unexplained pigment affection (incontinentia pigmenti)].
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Sulzberger, Marion B (1928). "Ăśber eine bisher nicht beschriebene congenitale
Pigmentanomalie" [About a previously udescribed congenital pigment anomaly].
1611:
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238:, muscle weakness in one or both sides of the body, intellectual disability, and seizures. They are also likely to have visual problems, which can include:
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Minić, S; Trpinac, D; Gabriel, H; Gencik, M; Obradović, M (January 2013). "Dental and oral anomalies in incontinentia pigmenti: a systematic review".
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Pettigrew, Rachel; Kuo, Hung-Chih; Scriven, Paul; Rowell, Paula; Pal, Kalyani; Handyside, Alan; Braude, Peter; Ogilvie, Caroline Mackie (2000).
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Hayley; Jakins, T; Donnai, D; Stewart, H; Kenwrick, S. J; Aradhya, Swaroop; Yamagata, T; Levy, M; Lewis, R. A; Nelson, D. L (2000).
377:
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31:
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219:, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines. The discoloration sometimes fades with age.
1471:
51:
Bloch–Siemens syndrome, Bloch–Sulzberger disease, Bloch–Sulzberger syndrome, nelanoblastosis cutis, nevus pigmentosus systematicus
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559:"A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome): Case Report"
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that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.
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192:, dental anomalies, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to
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The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Molecular
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211:). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the
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380:). This has a slightly different presentation: swirls or streaks of hypopigmentation and depigmentation. It is
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There does not yet exist a specific treatment for IP. Treatment can only address the individual symptoms.
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615:"Genomic rearrangement in NEMO impairs NF-ÎşB activation and is a cause of incontinentia pigmenti"
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Skeletal and structural anomalies can occur in approximately 14% of patients, including:
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There is no specific treatment; individual conditions must be managed by specialists.
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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second type of IP, formerly known as IP1. This has now been given its own name:
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selectively die around the time of birth, so the X-inactivation is extremely
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gene, which encodes the NEMO protein, which serves to protect cells against
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250:, and severe visual loss. Dental problems are also common, and can include
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Template:Congenital malformations and deformations of skin appendages
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List of radiographic findings associated with cutaneous conditions
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451:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
429:
List of dental abnormalities associated with cutaneous conditions
130:. A lack of IKBKG therefore makes cells more prone to apoptosis.
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2016:
2012:
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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In females, the cells expressing the mutated IKBKG gene due to
2843:
Deficiencies of intracellular signaling peptides and proteins
261:
Breast anomalies can occur in 1% of patients and can include
178:(from about six months of age into adulthood), followed by
1908:
Congenital hypertrophy of the lateral fold of the hallux
401:
This disorder was first reported by Swiss dermatologist
1776:
Template:DNA replication and repair-deficiency disorder
306:
absence of the hands—note: other limbs may be affected)
203:
The discolored skin is caused by excessive deposits of
116:
Incontinentia pigmenti is caused by a mutation in the
737:
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4075:Inherited patterned lentiginosis in black persons
1392:Diffuse nonepidermolytic palmoplantar keratoderma
733:GeneReview/NIH/UW entry on Incontinentia Pigmenti
694:Bloch-Sulzberger pigment dermatosis (Bruno Bloch)
351:IP is caused by mutations in a gene called NEMO (
4284:Eczematid-like purpura of Doucas and Kapetanakis
1116:Nonbullous congenital ichthyosiform erythroderma
474:
472:
2416:Danon disease/glycogen storage disease Type IIb
1581:Palmoplantar keratoderma and spastic paraplegia
234:. About 20% of children with IP will have slow
1387:Diffuse epidermolytic palmoplantar keratoderma
3936:Yemenite deaf-blind hypopigmentation syndrome
3615:
3590:intracellular signaling peptides and proteins
2828:
2521:Color blindness (red and green, but not blue)
2506:Alpha-thalassemia mental retardation syndrome
2210:
2028:
1918:Congenital malformations of the dermatoglyphs
948:
8:
2406:Glucose-6-phosphate dehydrogenase deficiency
4004:Reticular pigmented anomaly of the flexures
4239:
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3663:
3652:
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3608:
3600:
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2821:
2813:
2736:
2234:
2217:
2203:
2195:
2035:
2021:
2013:
1943:Melanotic neuroectodermal tumor of infancy
1794:
1680:Keratosis follicularis spinulosa decalvans
1370:
1111:Ichthyosis–sclerosing cholangitis syndrome
998:
984:
955:
941:
933:
738:
446:
444:
84:
56:
39:
3452:EDARADD Hypohidrotic ectodermal dysplasia
2266:X-linked severe combined immunodeficiency
1903:Congenital cartilaginous rest of the neck
1498:Focal palmoplantar and gingival keratosis
712:Schweizerische medizinische Wochenschrift
574:
164:(from birth to about four months of age),
4280:Doucas and Kapetanakis pigmented purpura
4009:Naegeli–Franceschetti–Jadassohn syndrome
1968:Rapidly involuting congenital hemangioma
1558:Keratosis punctata of the palmar creases
1553:Keratosis punctata palmaris et plantaris
1424:Clouston's hidrotic ectodermal dysplasia
196:in early childhood. Cognitive delays or
4019:X-linked reticulate pigmentary disorder
3999:Reticulate acropigmentation of Kitamura
3994:Pigmentatio reticularis faciei et colli
2660:X-linked nephrogenic diabetes insipidus
2585:Hypohidrotic ectodermal dysplasia (EDA)
440:
254:, abnormally shaped teeth, and delayed
27:Rare X-linked dominant genetic disorder
4477:Syndromes affecting the nervous system
4391:Dyschromatosis universalis hereditaria
4196:Familial progressive hyperpigmentation
2595:X-linked endothelial corneal dystrophy
157:evolve through characteristic stages:
4386:Dyschromatosis symmetrica hereditaria
4221:Transient neonatal pustular melanosis
2551:Charcot–Marie–Tooth disease (CMTX2-3)
2375:Ornithine transcarbamylase deficiency
2351:X-linked adrenal hypoplasia congenita
1029:Congenital ichthyosiform erythroderma
145:Incontinentia pigmenti forming along
7:
4211:Photoleukomelanodermatitis of Kobori
3989:Dermatopathia pigmentosa reticularis
3083:Neutrophil immunodeficiency syndrome
2966:Albright's hereditary osteodystrophy
2286:X-linked lymphoproliferative disease
2256:Chronic granulomatous disease (CYBB)
2184:Encephalocraniocutaneous lipomatosis
1690:Keratosis pilaris atrophicans faciei
1275:Dermatopathia pigmentosa reticularis
599:"Incontinentia pigmenti. DermNet NZ"
481:Archiv fĂĽr Dermatologie und Syphilis
3437:Signal transducing adaptor proteins
2632:Emery–Dreifuss muscular dystrophy 1
405:in 1926 and American dermatologist
4216:Postinflammatory hyperpigmentation
4136:Poikiloderma vasculare atrophicans
3021:KRAS Cardiofaciocutaneous syndrome
2912:X-linked intellectual disability 1
2907:Juvenile primary lateral sclerosis
2341:Spinal and bulbar muscular atrophy
1983:Superficial lymphatic malformation
1928:Congenital smooth muscle hamartoma
1397:Palmoplantar keratoderma of Sybert
966:malformations and deformations of
222:Neurological problems can include
65:This condition is inherited in an
25:
4462:Eosinophilic cutaneous conditions
3921:Postinflammatory hypopigmentation
3865:Progressive macular hypomelanosis
3368:Bannayan–Riley–Ruvalcaba syndrome
2411:Pyruvate dehydrogenase deficiency
2118:Bannayan–Riley–Ruvalcaba syndrome
1455:Scleroatrophic syndrome of Huriez
1285:Hypohidrotic ectodermal dysplasia
378:incontinentia pigmenti achromians
335:preimplantation genetic diagnosis
32:Incontinentia pigmenti achromians
3855:Idiopathic guttate hypomelanosis
2956:Progressive osseous heteroplasia
2491:X-linked intellectual disability
1568:Porokeratosis plantaris discreta
1525:Striate palmoplantar keratoderma
171:-like rash (for several months),
4339:Titanium metallic discoloration
4095:Partial unilateral lentiginosis
3561:PRKCSH Polycystic liver disease
2337:Androgen insensitivity syndrome
2164:Abdallat–Davis–Farrage syndrome
1993:Verrucous vascular malformation
1923:Congenital preauricular fistula
1893:Accessory nail of the fifth toe
1770:Template:Pigmentation disorders
1563:Schöpf–Schulz–Passarge syndrome
1543:Acrokeratoelastoidosis of Costa
1248:Laryngoonychocutaneous syndrome
1121:Ichthyosis linearis circumflexa
1106:Ichthyosis prematurity syndrome
4112:Erythema dyschromicum perstans
3547:Wolff–Parkinson–White syndrome
2951:Pseudopseudohypoparathyroidism
2850:GTP-binding protein regulators
2713:Simpson–Golabi–Behmel syndrome
1607:Erythrokeratodermia variabilis
1518:Pachyonychia congenita type II
1:
4301:Hemosiderin hyperpigmentation
4260:Pigmented purpuric dermatosis
4206:Periorbital hyperpigmentation
3702:Vogt–Koyanagi–Harada syndrome
3155:Cardiofaciocutaneous syndrome
3103:Chylomicron retention disease
2682:AMELX Amelogenesis imperfecta
2622:Centronuclear myopathy (MTM1)
2319:X-linked sideroblastic anemia
1933:Cystic lymphatic malformation
1886:Cavernous venous malformation
1513:Pachyonychia congenita type I
1436:Corneodermatoosseous syndrome
1096:Ichthyosis bullosa of Siemens
4168:Shiitake mushroom dermatitis
3397:X-linked myotubular myopathy
2708:Smith–Fineman–Myers syndrome
2556:Pelizaeus–Merzbacher disease
2450:Purine–pyrimidine metabolism
1341:Popliteal pterygium syndrome
1033:Epidermolytic hyperkeratosis
419:List of cutaneous conditions
4467:X-linked dominant disorders
4255:Iron metallic discoloration
3931:Vagabond's leukomelanoderma
3194:X-linked agammaglobulinemia
3038:Charcot–Marie–Tooth disease
2798:Craniofrontonasal dysplasia
2723:Nasodigitoacoustic syndrome
2271:X-linked agammaglobulinemia
2103:Multiple hamartoma syndrome
1973:Rosenthal–Kloepfer syndrome
1958:Omphalomesenteric duct cyst
1675:Keratolytic winter erythema
1335:Gerodermia osteodysplastica
4498:
4201:Pallister–Killian syndrome
3850:Albinism–deafness syndrome
2897:Marinesco–Sjögren syndrome
2793:Orofaciodigital syndrome 1
2627:Conradi–Hünermann syndrome
2380:Oculocerebrorenal syndrome
1548:Focal acral hyperkeratosis
1295:Ellis–van Creveld syndrome
29:
4117:Lichen planus pigmentosus
4065:Centrofacial lentiginosis
3822:Griscelli syndrome type 3
3817:Griscelli syndrome type 2
3797:Hermansky–Pudlak syndrome
3585:
3505:Neurofibromatosis type II
3339:Pseudohypoaldosteronism 2
3066:Griscelli syndrome type 2
2859:GTPase-activating protein
2753:X-linked hypophosphatemia
2748:
2735:
2613:Becker muscular dystrophy
2276:Hyper-IgM syndrome type 1
2233:
2065:Von Hippel–Lindau disease
1472:Papillon–Lefèvre syndrome
1043:Harlequin-type ichthyosis
576:10.1093/humrep/15.12.2650
528:10.1007/s00784-012-0721-5
453:Dermatology: 2-Volume Set
64:
55:
4070:Generalized lentiginosis
3802:Chédiak–Higashi syndrome
3373:Lhermitte–Duclos disease
2971:McCune–Albright syndrome
2961:Pseudohypoparathyroidism
2867:Neurofibromatosis type I
2718:Mohr–Tranebjærg syndrome
2261:Wiskott–Aldrich syndrome
2123:Lhermitte–Duclos disease
1346:Pseudoxanthoma elasticum
1062:Sjögren–Larsson syndrome
669:"Incontinentia pigmenti"
333:, prenatal testing, and
149:in a three-year-old girl
30:Not to be confused with
18:Bloch–Sulzberger disease
4131:Poikiloderma of Civatte
3767:Oculocutaneous albinism
3131:Bardet–Biedl syndrome 3
2758:Focal dermal hypoplasia
2472:Occipital horn syndrome
2401:Carbohydrate metabolism
2092:Pallister–Hall syndrome
1871:Aplasia cutis congenita
1290:Focal dermal hypoplasia
1253:Skin fragility syndrome
1101:Ichthyosis follicularis
200:are occasionally seen.
198:intellectual disability
4275:Gougerot–Blum syndrome
4158:Incontinentia pigmenti
4014:Dyskeratosis congenita
3941:Wende–Bauckus syndrome
3860:Phylloid hypomelanosis
3631:Pigmentation disorders
3279:Peutz–Jeghers syndrome
3265:Incontinentia pigmenti
3251:Li–Fraumeni syndrome 2
2902:Aarskog–Scott syndrome
2773:Incontinentia pigmenti
2580:Dyskeratosis congenita
2424:Lipid storage disorder
2346:KAL1 Kallmann syndrome
2179:Peutz–Jeghers syndrome
2174:Incontinentia pigmenti
2088:Hypothalamic hamartoma
1988:Thyroglossal duct cyst
1953:Nasolacrimal duct cyst
1876:Amniotic band syndrome
1670:Dyskeratosis congenita
1658:Dyskeratosis congenita
1508:Pachyonychia congenita
1419:Bart–Pumphrey syndrome
1351:Van der Woude syndrome
1326:Ehlers–Danlos syndrome
910:incontinentia-pigmenti
899:incontinentia-pigmenti
888:incontinentia-pigmenti
877:Incontinentia pigmenti
355:essential modulator).
150:
96:Incontinentia pigmenti
43:Incontinentia pigmenti
3697:Alezzandrini syndrome
3676:Quadrichrome vitiligo
3383:Proteus-like syndrome
3237:Coffin-Lowry syndrome
2496:Coffin–Lowry syndrome
2437:Mucopolysaccharidosis
2169:Ataxia telangiectasia
2060:Sturge–Weber syndrome
1853:Nevus flammeus nuchae
1764:Template:Phakomatoses
1736:Hereditary lymphedema
1300:Rapp–Hodgkin syndrome
989:Congenital ichthyosis
267:supernumerary nipples
144:
4294:Angioma serpiginosum
4186:Acanthosis nigricans
3725:Waardenburg syndrome
3291:Myotonic dystrophy 1
2788:Lujan–Fryns syndrome
2455:Lesch–Nyhan syndrome
2393:Adrenoleukodystrophy
2291:Properdin deficiency
1843:Capillary hemangioma
1745:Urticaria pigmentosa
1503:Howel–Evans syndrome
1263:Ectodermal dysplasia
1204:Generalized atrophic
455:. St. Louis: Mosby.
374:Hypomelanosis of Ito
4024:Galli–Galli disease
3916:Nevus depigmentosus
2590:X-linked ichthyosis
1530:Tyrosinemia type II
1080:X-linked ichthyosis
1038:Lamellar ichthyosis
1011:Ichthyosis vulgaris
994:erythrokeratodermia
631:2000Natur.405..466T
4270:Majocchi's disease
4163:Scratch dermatitis
4090:Mucosal lentigines
3890:Vasospastic macule
3807:Griscelli syndrome
3421:Metachondromatosis
3117:Joubert syndrome 8
3052:Carpenter syndrome
2887:Guanine nucleotide
2877:Tuberous sclerosis
2763:Fragile X syndrome
2573:and related tissue
2240:X-linked recessive
2083:Tuberous sclerosis
1913:Congenital lip pit
1477:Haim–Munk syndrome
1429:Vohwinkel syndrome
1304:Hay–Wells syndrome
1280:Hay–Wells syndrome
1126:Ichthyosis hystrix
1052:Netherton syndrome
838:External resources
563:Human Reproduction
516:Clin Oral Investig
493:10.1007/bf01828398
331:Genetic counseling
248:retinal detachment
194:retinal detachment
151:
4449:
4448:
4372:
4371:
4368:
4367:
4329:Arsenic poisoning
4265:Schamberg disease
4229:
4228:
4122:Café au lait spot
3949:
3948:
3873:
3872:
3812:Elejalde syndrome
3738:
3737:
3597:
3596:
3431:
3430:
3411:Noonan syndrome 1
3305:Seckel syndrome 1
3141:
3140:
3016:Noonan syndrome 3
3002:Costello syndrome
2920:
2919:
2810:
2809:
2806:
2805:
2742:X-linked dominant
2731:
2730:
2691:No primary system
2192:
2191:
2135:Neurofibromatosis
2010:
2009:
2006:
2005:
1938:Median raphe cyst
1898:Bronchogenic cyst
1820:PHACE association
1784:
1783:
1703:
1702:
1695:Keratosis pilaris
1639:Keratosis pilaris
1593:Carvajal syndrome
1573:Spiny keratoderma
1238:Costello syndrome
1134:
1133:
930:
929:
462:978-1-4160-2999-1
407:Marion Sulzberger
315:Skull deformities
276:Somatic asymmetry
236:motor development
232:cerebellar cortex
176:hyperpigmentation
174:swirling macular
104:X-linked dominant
93:
92:
67:X-linked dominant
37:Medical condition
16:(Redirected from
4489:
4240:
4080:Ink spot lentigo
3979:
3960:
3755:
3681:Vitiligo ponctué
3664:
3653:
3624:
3617:
3610:
3601:
3416:LEOPARD syndrome
3319:Oguchi disease 2
3220:Serine/threonine
3208:ZAP70 deficiency
3175:
2931:
2855:
2837:
2830:
2823:
2814:
2768:Aicardi syndrome
2737:
2235:
2219:
2212:
2205:
2196:
2108:Proteus syndrome
2037:
2030:
2023:
2014:
1825:Sinus pericranii
1795:
1651:Darier's disease
1460:Olmsted syndrome
1371:
1271:Naegeli syndrome
1243:Kindler syndrome
999:
985:
957:
950:
943:
934:
739:
720:
719:
707:
701:
690:
684:
683:
681:
679:
665:
659:
658:
639:10.1038/35013114
625:(6785): 466–72.
609:
603:
602:
595:
589:
588:
578:
554:
548:
547:
511:
505:
504:
476:
467:
466:
448:
224:cerebral atrophy
183:hypopigmentation
147:Blaschko's lines
107:genetic disorder
89:
88:
80:Medical genetics
60:
40:
21:
4497:
4496:
4492:
4491:
4490:
4488:
4487:
4486:
4452:
4451:
4450:
4445:
4395:
4364:
4343:
4311:
4305:
4250:Hemochromatosis
4235:
4225:
4178:
4172:
4146:
4142:Riehl melanosis
4100:PUVA lentigines
4085:Lentigo maligna
4055:Lentigo simplex
4039:
4033:
4029:Revesz syndrome
3972:
3967:
3945:
3926:Pityriasis alba
3904:
3895:Woronoff's ring
3882:
3869:
3828:
3789:
3781:
3772:Ocular albinism
3748:
3734:
3712:
3706:
3685:
3657:
3646:
3637:
3628:
3598:
3593:
3581:
3486:
3427:
3378:Cowden syndrome
3352:
3345:
3221:
3214:
3179:Tyrosine kinase
3159:
3137:
2980:
2916:
2889:exchange factor
2888:
2881:
2872:Watson syndrome
2844:
2841:
2811:
2802:
2744:
2727:
2703:McLeod syndrome
2686:
2664:
2650:Alport syndrome
2636:
2599:
2565:
2526:Ocular albinism
2476:
2442:Hunter syndrome
2355:
2323:
2295:
2242:
2229:
2223:
2193:
2188:
2152:
2129:
2113:Cowden syndrome
2069:
2046:
2041:
2011:
2002:
1864:Other/ungrouped
1859:
1848:Port-wine stain
1829:
1790:
1780:
1699:
1622:
1364:
1355:
1308:
1257:
1142:
1130:
1084:
1066:
1015:
992:
974:
961:
931:
926:
925:
866:article/1176285
863:article/1114205
833:
832:
750:
729:
724:
723:
718:. Basel: 404–5.
709:
708:
704:
691:
687:
677:
675:
667:
666:
662:
611:
610:
606:
597:
596:
592:
556:
555:
551:
513:
512:
508:
478:
477:
470:
463:
450:
449:
442:
437:
415:
399:
391:
365:genetic testing
361:
322:
139:
83:
38:
35:
28:
23:
22:
15:
12:
11:
5:
4495:
4493:
4485:
4484:
4479:
4474:
4472:Enzyme defects
4469:
4464:
4454:
4453:
4447:
4446:
4444:
4443:
4441:Depigmentation
4438:
4437:
4436:
4426:
4425:
4424:
4414:
4412:Skin whitening
4409:
4403:
4401:
4397:
4396:
4394:
4393:
4388:
4382:
4380:
4374:
4373:
4370:
4369:
4366:
4365:
4363:
4362:
4357:
4351:
4349:
4345:
4344:
4342:
4341:
4336:
4334:Lead poisoning
4331:
4326:
4321:
4315:
4313:
4307:
4306:
4304:
4303:
4298:
4297:
4296:
4291:
4286:
4277:
4272:
4267:
4257:
4252:
4246:
4244:
4237:
4231:
4230:
4227:
4226:
4224:
4223:
4218:
4213:
4208:
4203:
4198:
4193:
4188:
4182:
4180:
4174:
4173:
4171:
4170:
4165:
4160:
4154:
4152:
4148:
4147:
4145:
4144:
4139:
4133:
4124:
4119:
4114:
4109:
4103:
4102:
4097:
4092:
4087:
4082:
4077:
4072:
4067:
4062:
4057:
4043:
4041:
4035:
4034:
4032:
4031:
4026:
4021:
4016:
4011:
4006:
4001:
3996:
3991:
3985:
3983:
3976:
3957:
3951:
3950:
3947:
3946:
3944:
3943:
3938:
3933:
3928:
3923:
3918:
3912:
3910:
3906:
3905:
3903:
3902:
3900:Nevus anemicus
3897:
3892:
3886:
3884:
3875:
3874:
3871:
3870:
3868:
3867:
3862:
3857:
3852:
3847:
3842:
3840:Cross syndrome
3836:
3834:
3830:
3829:
3827:
3826:
3825:
3824:
3819:
3814:
3804:
3799:
3793:
3791:
3783:
3782:
3780:
3779:
3774:
3769:
3763:
3761:
3752:
3740:
3739:
3736:
3735:
3733:
3732:
3730:Tietz syndrome
3727:
3722:
3716:
3714:
3708:
3707:
3705:
3704:
3699:
3693:
3691:
3687:
3686:
3684:
3683:
3678:
3672:
3670:
3661:
3650:
3639:
3638:
3629:
3627:
3626:
3619:
3612:
3604:
3595:
3594:
3586:
3583:
3582:
3580:
3579:
3578:
3577:
3565:
3564:
3563:
3551:
3550:
3549:
3537:
3536:
3535:
3533:Carney complex
3523:
3522:
3521:
3509:
3508:
3507:
3494:
3492:
3488:
3487:
3485:
3484:
3483:
3482:
3470:
3469:
3468:
3456:
3455:
3454:
3441:
3439:
3433:
3432:
3429:
3428:
3426:
3425:
3424:
3423:
3418:
3413:
3401:
3400:
3399:
3387:
3386:
3385:
3380:
3375:
3370:
3357:
3355:
3347:
3346:
3344:
3343:
3342:
3341:
3323:
3322:
3321:
3309:
3308:
3307:
3295:
3294:
3293:
3283:
3282:
3281:
3269:
3268:
3267:
3255:
3254:
3253:
3241:
3240:
3239:
3226:
3224:
3216:
3215:
3213:
3212:
3211:
3210:
3198:
3197:
3196:
3183:
3181:
3172:
3161:
3160:
3158:
3157:
3151:
3149:
3143:
3142:
3139:
3138:
3136:
3135:
3134:
3133:
3121:
3120:
3119:
3107:
3106:
3105:
3088:
3087:
3086:
3085:
3071:
3070:
3069:
3068:
3056:
3055:
3054:
3042:
3041:
3040:
3026:
3025:
3024:
3023:
3018:
3006:
3005:
3004:
2990:
2988:
2982:
2981:
2979:
2978:
2973:
2968:
2963:
2958:
2953:
2939:
2937:
2928:
2922:
2921:
2918:
2917:
2915:
2914:
2909:
2904:
2899:
2893:
2891:
2883:
2882:
2880:
2879:
2874:
2869:
2863:
2861:
2852:
2846:
2845:
2842:
2840:
2839:
2832:
2825:
2817:
2808:
2807:
2804:
2803:
2801:
2800:
2795:
2790:
2785:
2783:CHILD syndrome
2780:
2775:
2770:
2765:
2760:
2755:
2749:
2746:
2745:
2740:
2733:
2732:
2729:
2728:
2726:
2725:
2720:
2715:
2710:
2705:
2700:
2698:Barth syndrome
2694:
2692:
2688:
2687:
2685:
2684:
2678:
2676:
2666:
2665:
2663:
2662:
2657:
2655:Dent's disease
2652:
2646:
2644:
2638:
2637:
2635:
2634:
2629:
2624:
2619:
2609:
2607:
2601:
2600:
2598:
2597:
2592:
2587:
2582:
2576:
2574:
2567:
2566:
2564:
2563:
2558:
2553:
2544:
2543:
2538:
2536:Norrie disease
2533:
2523:
2518:Eye disorders:
2514:
2513:
2508:
2503:
2498:
2486:
2484:
2482:Nervous system
2478:
2477:
2475:
2474:
2468:Menkes disease
2458:
2457:
2445:
2444:
2432:
2431:
2419:
2418:
2413:
2408:
2396:
2395:
2383:
2382:
2377:
2365:
2363:
2357:
2356:
2354:
2353:
2348:
2343:
2333:
2331:
2325:
2324:
2322:
2321:
2316:
2311:
2305:
2303:
2297:
2296:
2294:
2293:
2288:
2283:
2278:
2273:
2268:
2263:
2258:
2252:
2250:
2244:
2243:
2238:
2231:
2230:
2224:
2222:
2221:
2214:
2207:
2199:
2190:
2189:
2187:
2186:
2181:
2176:
2171:
2166:
2160:
2158:
2154:
2153:
2151:
2150:
2145:
2139:
2137:
2131:
2130:
2128:
2127:
2126:
2125:
2120:
2115:
2110:
2100:
2098:Megalencephaly
2095:
2085:
2079:
2077:
2071:
2070:
2068:
2067:
2062:
2056:
2054:
2048:
2047:
2042:
2040:
2039:
2032:
2025:
2017:
2008:
2007:
2004:
2003:
2001:
2000:
1995:
1990:
1985:
1980:
1975:
1970:
1965:
1963:Poland anomaly
1960:
1955:
1950:
1948:Mongolian spot
1945:
1940:
1935:
1930:
1925:
1920:
1915:
1910:
1905:
1900:
1895:
1889:
1888:
1883:
1881:Branchial cyst
1878:
1873:
1867:
1865:
1861:
1860:
1858:
1857:
1856:
1855:
1845:
1839:
1837:
1831:
1830:
1828:
1827:
1822:
1817:
1812:
1807:
1801:
1799:
1792:
1786:
1785:
1782:
1781:
1755:
1754:
1749:
1748:
1747:
1738:
1726:
1725:
1724:
1711:
1709:
1705:
1704:
1701:
1700:
1698:
1697:
1692:
1687:
1682:
1677:
1672:
1666:
1665:
1663:Lelis syndrome
1660:
1655:
1654:
1653:
1641:
1636:
1634:Meleda disease
1630:
1628:
1624:
1623:
1621:
1620:
1619:
1618:
1609:
1597:
1596:
1595:
1583:
1576:
1575:
1570:
1565:
1560:
1555:
1550:
1545:
1535:
1534:
1533:
1532:
1527:
1522:
1521:
1520:
1515:
1505:
1500:
1495:
1486:
1484:Camisa disease
1481:
1480:
1479:
1474:
1462:
1457:
1452:
1451:
1450:
1448:Naxos syndrome
1438:
1433:
1432:
1431:
1426:
1421:
1405:
1404:
1402:Meleda disease
1399:
1394:
1389:
1379:
1377:
1368:
1361:Hyperkeratosis
1357:
1356:
1354:
1353:
1348:
1343:
1338:
1328:
1322:
1320:
1310:
1309:
1307:
1306:
1297:
1292:
1287:
1282:
1277:
1267:
1265:
1259:
1258:
1256:
1255:
1250:
1245:
1240:
1233:
1232:
1231:
1230:
1225:
1214:
1213:
1212:
1211:
1206:
1201:
1196:
1185:
1184:
1183:
1182:
1177:
1172:
1167:
1162:
1157:
1146:
1144:
1136:
1135:
1132:
1131:
1129:
1128:
1123:
1118:
1113:
1108:
1103:
1098:
1092:
1090:
1086:
1085:
1083:
1082:
1076:
1074:
1068:
1067:
1065:
1064:
1059:
1057:CHIME syndrome
1054:
1048:
1047:
1046:
1045:
1035:
1025:
1023:
1017:
1016:
1014:
1013:
1007:
1005:
996:
982:
980:Genodermatosis
976:
975:
962:
960:
959:
952:
945:
937:
928:
927:
924:
923:
912:
901:
890:
879:
868:
854:
842:
841:
839:
835:
834:
831:
830:
819:
808:
797:
782:
767:
751:
746:
745:
743:
742:Classification
736:
735:
728:
727:External links
725:
722:
721:
702:
685:
660:
604:
590:
569:(12): 2650–2.
549:
506:
468:
461:
439:
438:
436:
433:
432:
431:
426:
421:
414:
411:
398:
395:
390:
387:
360:
357:
337:is available.
321:
318:
317:
316:
313:
310:
307:
297:
292:
287:
282:
277:
256:tooth eruption
187:
186:
179:
172:
165:
138:
135:
91:
90:
77:
71:
70:
62:
61:
53:
52:
49:
45:
44:
36:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
4494:
4483:
4482:Rare diseases
4480:
4478:
4475:
4473:
4470:
4468:
4465:
4463:
4460:
4459:
4457:
4442:
4439:
4435:
4432:
4431:
4430:
4427:
4423:
4420:
4419:
4418:
4415:
4413:
4410:
4408:
4405:
4404:
4402:
4398:
4392:
4389:
4387:
4384:
4383:
4381:
4379:
4375:
4361:
4360:Tar melanosis
4358:
4356:
4353:
4352:
4350:
4346:
4340:
4337:
4335:
4332:
4330:
4327:
4325:
4322:
4320:
4317:
4316:
4314:
4308:
4302:
4299:
4295:
4292:
4290:
4289:Lichen aureus
4287:
4285:
4281:
4278:
4276:
4273:
4271:
4268:
4266:
4263:
4262:
4261:
4258:
4256:
4253:
4251:
4248:
4247:
4245:
4241:
4238:
4232:
4222:
4219:
4217:
4214:
4212:
4209:
4207:
4204:
4202:
4199:
4197:
4194:
4192:
4189:
4187:
4184:
4183:
4181:
4175:
4169:
4166:
4164:
4161:
4159:
4156:
4155:
4153:
4149:
4143:
4140:
4137:
4134:
4132:
4128:
4125:
4123:
4120:
4118:
4115:
4113:
4110:
4108:
4105:
4104:
4101:
4098:
4096:
4093:
4091:
4088:
4086:
4083:
4081:
4078:
4076:
4073:
4071:
4068:
4066:
4063:
4061:
4058:
4056:
4052:
4048:
4045:
4044:
4042:
4040:circumscribed
4036:
4030:
4027:
4025:
4022:
4020:
4017:
4015:
4012:
4010:
4007:
4005:
4002:
4000:
3997:
3995:
3992:
3990:
3987:
3986:
3984:
3980:
3977:
3975:
3970:
3965:
3961:
3958:
3956:
3952:
3942:
3939:
3937:
3934:
3932:
3929:
3927:
3924:
3922:
3919:
3917:
3914:
3913:
3911:
3907:
3901:
3898:
3896:
3893:
3891:
3888:
3887:
3885:
3883:hypomelanosis
3880:
3876:
3866:
3863:
3861:
3858:
3856:
3853:
3851:
3848:
3846:
3845:ABCD syndrome
3843:
3841:
3838:
3837:
3835:
3831:
3823:
3820:
3818:
3815:
3813:
3810:
3809:
3808:
3805:
3803:
3800:
3798:
3795:
3794:
3792:
3788:
3784:
3778:
3775:
3773:
3770:
3768:
3765:
3764:
3762:
3760:
3756:
3753:
3751:
3746:
3741:
3731:
3728:
3726:
3723:
3721:
3718:
3717:
3715:
3709:
3703:
3700:
3698:
3695:
3694:
3692:
3688:
3682:
3679:
3677:
3674:
3673:
3671:
3669:
3665:
3662:
3660:
3654:
3651:
3649:
3644:
3640:
3636:
3632:
3625:
3620:
3618:
3613:
3611:
3606:
3605:
3602:
3592:
3591:
3584:
3576:
3573:
3572:
3571:
3570:
3566:
3562:
3559:
3558:
3557:
3556:
3552:
3548:
3545:
3544:
3543:
3542:
3538:
3534:
3531:
3530:
3529:
3528:
3524:
3520:
3517:
3516:
3515:
3514:
3510:
3506:
3503:
3502:
3501:
3500:
3496:
3495:
3493:
3489:
3481:
3478:
3477:
3476:
3475:
3471:
3467:
3464:
3463:
3462:
3461:
3457:
3453:
3450:
3449:
3448:
3447:
3443:
3442:
3440:
3438:
3434:
3422:
3419:
3417:
3414:
3412:
3409:
3408:
3407:
3406:
3402:
3398:
3395:
3394:
3393:
3392:
3388:
3384:
3381:
3379:
3376:
3374:
3371:
3369:
3366:
3365:
3364:
3363:
3359:
3358:
3356:
3354:
3348:
3340:
3337:
3336:
3335:
3334:
3329:
3328:
3324:
3320:
3317:
3316:
3315:
3314:
3310:
3306:
3303:
3302:
3301:
3300:
3296:
3292:
3289:
3288:
3287:
3284:
3280:
3277:
3276:
3275:
3274:
3270:
3266:
3263:
3262:
3261:
3260:
3256:
3252:
3249:
3248:
3247:
3246:
3242:
3238:
3235:
3234:
3233:
3232:
3228:
3227:
3225:
3223:
3217:
3209:
3206:
3205:
3204:
3203:
3199:
3195:
3192:
3191:
3190:
3189:
3185:
3184:
3182:
3180:
3176:
3173:
3171:
3167:
3162:
3156:
3153:
3152:
3150:
3148:
3144:
3132:
3129:
3128:
3127:
3126:
3122:
3118:
3115:
3114:
3113:
3112:
3108:
3104:
3101:
3100:
3099:
3098:
3093:
3090:
3089:
3084:
3081:
3080:
3079:
3078:
3073:
3072:
3067:
3064:
3063:
3062:
3061:
3057:
3053:
3050:
3049:
3048:
3047:
3043:
3039:
3036:
3035:
3034:
3033:
3028:
3027:
3022:
3019:
3017:
3014:
3013:
3012:
3011:
3007:
3003:
3000:
2999:
2998:
2997:
2992:
2991:
2989:
2987:
2983:
2977:
2974:
2972:
2969:
2967:
2964:
2962:
2959:
2957:
2954:
2952:
2948:
2944:
2941:
2940:
2938:
2936:
2935:Heterotrimeic
2932:
2929:
2927:
2923:
2913:
2910:
2908:
2905:
2903:
2900:
2898:
2895:
2894:
2892:
2890:
2884:
2878:
2875:
2873:
2870:
2868:
2865:
2864:
2862:
2860:
2856:
2853:
2851:
2847:
2838:
2833:
2831:
2826:
2824:
2819:
2818:
2815:
2799:
2796:
2794:
2791:
2789:
2786:
2784:
2781:
2779:
2778:Rett syndrome
2776:
2774:
2771:
2769:
2766:
2764:
2761:
2759:
2756:
2754:
2751:
2750:
2747:
2743:
2738:
2734:
2724:
2721:
2719:
2716:
2714:
2711:
2709:
2706:
2704:
2701:
2699:
2696:
2695:
2693:
2689:
2683:
2680:
2679:
2677:
2675:
2671:
2667:
2661:
2658:
2656:
2653:
2651:
2648:
2647:
2645:
2643:
2639:
2633:
2630:
2628:
2625:
2623:
2620:
2618:
2614:
2611:
2610:
2608:
2606:
2605:Neuromuscular
2602:
2596:
2593:
2591:
2588:
2586:
2583:
2581:
2578:
2577:
2575:
2572:
2568:
2562:
2559:
2557:
2554:
2552:
2549:
2546:
2545:
2542:
2541:Choroideremia
2539:
2537:
2534:
2531:
2527:
2524:
2522:
2519:
2516:
2515:
2512:
2509:
2507:
2504:
2502:
2501:MASA syndrome
2499:
2497:
2494:
2492:
2488:
2487:
2485:
2483:
2479:
2473:
2469:
2466:
2464:
2460:
2459:
2456:
2453:
2451:
2447:
2446:
2443:
2440:
2438:
2434:
2433:
2430:
2429:Fabry disease
2426:
2425:
2421:
2420:
2417:
2414:
2412:
2409:
2407:
2404:
2402:
2398:
2397:
2394:
2391:
2389:
2385:
2384:
2381:
2378:
2376:
2373:
2371:
2367:
2366:
2364:
2362:
2358:
2352:
2349:
2347:
2344:
2342:
2338:
2335:
2334:
2332:
2330:
2326:
2320:
2317:
2315:
2314:Haemophilia B
2312:
2310:
2309:Haemophilia A
2307:
2306:
2304:
2302:
2298:
2292:
2289:
2287:
2284:
2282:
2279:
2277:
2274:
2272:
2269:
2267:
2264:
2262:
2259:
2257:
2254:
2253:
2251:
2249:
2245:
2241:
2236:
2232:
2227:
2220:
2215:
2213:
2208:
2206:
2201:
2200:
2197:
2185:
2182:
2180:
2177:
2175:
2172:
2170:
2167:
2165:
2162:
2161:
2159:
2155:
2149:
2146:
2144:
2141:
2140:
2138:
2136:
2132:
2124:
2121:
2119:
2116:
2114:
2111:
2109:
2106:
2105:
2104:
2101:
2099:
2096:
2093:
2089:
2086:
2084:
2081:
2080:
2078:
2076:
2072:
2066:
2063:
2061:
2058:
2057:
2055:
2053:
2049:
2045:
2038:
2033:
2031:
2026:
2024:
2019:
2018:
2015:
1999:
1996:
1994:
1991:
1989:
1986:
1984:
1981:
1979:
1976:
1974:
1971:
1969:
1966:
1964:
1961:
1959:
1956:
1954:
1951:
1949:
1946:
1944:
1941:
1939:
1936:
1934:
1931:
1929:
1926:
1924:
1921:
1919:
1916:
1914:
1911:
1909:
1906:
1904:
1901:
1899:
1896:
1894:
1891:
1890:
1887:
1884:
1882:
1879:
1877:
1874:
1872:
1869:
1868:
1866:
1862:
1854:
1851:
1850:
1849:
1846:
1844:
1841:
1840:
1838:
1836:
1832:
1826:
1823:
1821:
1818:
1816:
1813:
1811:
1810:Encephalocele
1808:
1806:
1803:
1802:
1800:
1796:
1793:
1789:Developmental
1787:
1779:
1778:
1777:
1772:
1771:
1766:
1765:
1761:
1753:
1752:Hailey–Hailey
1750:
1746:
1742:
1739:
1737:
1734:
1733:
1732:
1731:
1730:immune system
1727:
1723:
1720:
1719:
1718:
1717:
1713:
1712:
1710:
1706:
1696:
1693:
1691:
1688:
1686:
1683:
1681:
1678:
1676:
1673:
1671:
1668:
1667:
1664:
1661:
1659:
1656:
1652:
1649:
1648:
1647:
1646:
1642:
1640:
1637:
1635:
1632:
1631:
1629:
1625:
1617:
1613:
1610:
1608:
1605:
1604:
1603:
1602:
1598:
1594:
1591:
1590:
1589:
1588:
1584:
1582:
1578:
1577:
1574:
1571:
1569:
1566:
1564:
1561:
1559:
1556:
1554:
1551:
1549:
1546:
1544:
1540:
1537:
1536:
1531:
1528:
1526:
1523:
1519:
1516:
1514:
1511:
1510:
1509:
1506:
1504:
1501:
1499:
1496:
1494:
1490:
1487:
1485:
1482:
1478:
1475:
1473:
1470:
1469:
1468:
1467:
1463:
1461:
1458:
1456:
1453:
1449:
1446:
1445:
1444:
1443:
1439:
1437:
1434:
1430:
1427:
1425:
1422:
1420:
1417:
1416:
1415:
1414:
1410:
1409:
1407:
1406:
1403:
1400:
1398:
1395:
1393:
1390:
1388:
1384:
1381:
1380:
1378:
1376:
1372:
1369:
1367:
1366:keratinopathy
1362:
1358:
1352:
1349:
1347:
1344:
1342:
1339:
1336:
1332:
1329:
1327:
1324:
1323:
1321:
1319:
1315:
1311:
1305:
1301:
1298:
1296:
1293:
1291:
1288:
1286:
1283:
1281:
1278:
1276:
1272:
1269:
1268:
1266:
1264:
1260:
1254:
1251:
1249:
1246:
1244:
1241:
1239:
1235:
1234:
1229:
1226:
1224:
1221:
1220:
1219:
1216:
1215:
1210:
1207:
1205:
1202:
1200:
1197:
1195:
1192:
1191:
1190:
1187:
1186:
1181:
1178:
1176:
1173:
1171:
1168:
1166:
1163:
1161:
1158:
1156:
1153:
1152:
1151:
1148:
1147:
1145:
1141:
1137:
1127:
1124:
1122:
1119:
1117:
1114:
1112:
1109:
1107:
1104:
1102:
1099:
1097:
1094:
1093:
1091:
1087:
1081:
1078:
1077:
1075:
1073:
1069:
1063:
1060:
1058:
1055:
1053:
1050:
1049:
1044:
1041:
1040:
1039:
1036:
1034:
1030:
1027:
1026:
1024:
1022:
1018:
1012:
1009:
1008:
1006:
1004:
1000:
997:
995:
990:
986:
983:
981:
977:
973:
969:
965:
958:
953:
951:
946:
944:
939:
938:
935:
922:
918:
917:
913:
911:
907:
906:
902:
900:
896:
895:
891:
889:
885:
884:
880:
878:
874:
873:
869:
867:
864:
860:
859:
855:
853:
849:
848:
844:
843:
840:
836:
829:
825:
824:
820:
818:
814:
813:
809:
807:
803:
802:
798:
796:
792:
791:
787:
783:
781:
777:
776:
772:
768:
766:
762:
761:
757:
753:
752:
749:
744:
740:
734:
731:
730:
726:
717:
714:(in German).
713:
706:
703:
700:
699:Who Named It?
696:
695:
689:
686:
674:
670:
664:
661:
656:
652:
648:
644:
640:
636:
632:
628:
624:
620:
616:
608:
605:
600:
594:
591:
586:
582:
577:
572:
568:
564:
560:
553:
550:
545:
541:
537:
533:
529:
525:
521:
517:
510:
507:
502:
498:
494:
490:
486:
483:(in German).
482:
475:
473:
469:
464:
458:
454:
447:
445:
441:
434:
430:
427:
425:
422:
420:
417:
416:
412:
410:
408:
404:
396:
394:
388:
386:
383:
379:
375:
370:
366:
358:
356:
354:
349:
347:
343:
338:
336:
332:
328:
319:
314:
311:
309:Ear anomalies
308:
305:
301:
298:
296:
293:
291:
288:
286:
283:
281:
280:Hemivertebrae
278:
275:
274:
273:
270:
268:
264:
259:
257:
253:
249:
245:
241:
237:
233:
229:
225:
220:
218:
214:
210:
207:(normal skin
206:
201:
199:
195:
191:
184:
180:
177:
173:
170:
166:
163:
160:
159:
158:
156:
148:
143:
136:
134:
131:
129:
125:
121:
120:
114:
110:
108:
105:
101:
97:
87:
81:
78:
76:
72:
68:
63:
59:
54:
50:
46:
41:
33:
19:
4157:
4127:Poikiloderma
4051:Lentiginosis
3587:
3567:
3553:
3539:
3525:
3511:
3497:
3472:
3458:
3444:
3403:
3389:
3360:
3331:
3325:
3311:
3297:
3271:
3264:
3257:
3243:
3229:
3200:
3186:
3123:
3109:
3095:
3075:
3058:
3044:
3030:
3008:
2994:
2772:
2547:
2517:
2489:
2461:
2448:
2435:
2422:
2399:
2388:Dyslipidemia
2386:
2368:
2173:
2052:Angiomatosis
2044:Phakomatosis
1815:Nasal glioma
1805:Dermoid cyst
1774:
1768:
1757:
1756:
1741:Mastocytosis
1728:
1722:EEM syndrome
1714:
1643:
1599:
1585:
1464:
1440:
1411:
972:skin disease
914:
903:
892:
881:
870:
856:
845:
821:
810:
799:
784:
769:
754:
715:
711:
705:
692:
688:
676:. Retrieved
673:Medline Plus
672:
663:
622:
618:
607:
593:
566:
562:
552:
519:
515:
509:
484:
480:
452:
400:
392:
381:
373:
367:of the NEMO
362:
350:
339:
323:
290:Spina bifida
271:
260:
240:crossed eyes
221:
202:
188:
155:skin lesions
152:
137:Presentation
132:
117:
115:
111:
102:) is a rare
99:
95:
94:
4355:Carotenosis
3982:Reticulated
3713:development
3659:melanocytes
3353:phosphatase
3170:phosphatase
2301:Hematologic
1978:Skin dimple
1587:desmoplakin
1579:ungrouped:
1466:Cathepsin C
1442:plakoglobin
1143:and related
905:Radiopaedia
872:GeneReviews
847:MedlinePlus
678:26 December
403:Bruno Bloch
342:lyonization
217:extremities
48:Other names
4456:Categories
4407:Skin color
4378:Dyschromia
4324:Chrysiasis
4060:Liver spot
3879:Leukoderma
3787:Melanosome
3720:Piebaldism
3711:Melanocyte
3635:Dyschromia
3480:Zaspopathy
3147:MAP kinase
2370:Amino acid
1408:syndromic
1331:Cutis laxa
1318:Connective
968:integument
964:Congenital
823:DiseasesDB
522:(1): 1–8.
435:References
312:Extra ribs
304:congenital
295:Syndactyly
263:hypoplasia
252:hypodontia
162:blistering
4179:ungrouped
3969:Melanosis
3909:Ungrouped
3777:in humans
3750:amelanism
3690:Syndromic
3588:See also
3466:Cherubism
2986:Monomeric
2926:G protein
2361:Metabolic
2329:Endocrine
2228:disorders
2075:Hamartoma
1998:Birthmark
1791:anomalies
1758:see also
1236:related:
1089:Ungrouped
858:eMedicine
655:186243924
487:: 19–32.
409:in 1928.
389:Treatment
359:Diagnosis
327:mosaicism
285:Scoliosis
244:cataracts
128:apoptosis
126:-induced
124:TNF-alpha
75:Specialty
4400:See also
4236:pigments
4038:Diffuse/
3974:Melanism
3790:transfer
3759:Albinism
3743:Loss of
3668:Vitiligo
3351:Tyrosine
2642:Urologic
2617:Duchenne
2226:X-linked
1716:cadherin
1601:connexin
1539:punctate
1413:connexin
916:Orphanet
647:10839543
585:11098039
544:73197872
536:22453515
501:40446256
413:See also
320:Genetics
300:Acheiria
190:Alopecia
4434:removal
4422:Sunless
4417:Tanning
4319:Argyria
4191:Freckle
4107:Melasma
4047:Lentigo
3964:Melanin
3745:melanin
3656:Loss of
3648:leucism
3527:PRKAR1A
3519:CADASIL
3513:Notch 3
3446:EDARADD
3231:RPS6KA3
2463:Mineral
2148:Type II
1798:Midline
1383:diffuse
1314:Elastic
817:D007184
765:LD27.00
627:Bibcode
397:History
230:in the
228:neurons
209:pigment
205:melanin
181:linear
69:manner.
4429:Tattoo
4312:metals
4177:Other/
4151:Linear
3955:Hyper-
3555:PRKCSH
3541:PRKAG2
3460:SH3BP2
3405:PTPN11
3222:kinase
3166:kinase
3164:Other
3111:ARL13B
2548:Other:
2248:Immune
2143:Type I
1645:ATP2A2
1209:JEB-PA
1180:EBS-MP
1175:EBS-MD
1170:EBS-OG
1165:EBS-DM
1160:EBS-WC
852:001583
806:308300
795:757.33
653:
645:
619:Nature
583:
542:
534:
499:
459:
346:skewed
82:
4348:Other
4310:Other
4234:Other
3833:Other
3643:Hypo-
3575:XIAP2
3491:Other
3273:STK11
3259:IKBKG
3245:CHEK2
3202:ZAP70
3097:SAR1B
3074:RHO:
3060:RAB27
3046:RAB23
3029:RAB:
2993:RAS:
2976:CGL 2
2947:GNAS1
2674:tooth
2561:SMAX2
2157:Other
1835:Nevus
1708:Other
1627:Other
1489:focal
1199:Mitis
1194:JEB-H
1155:EBS-K
828:29600
780:Q82.3
651:S2CID
540:S2CID
497:S2CID
369:IKBKG
353:NF-ÎşB
213:trunk
119:IKBKG
4243:Iron
3569:XIAP
3474:LDB3
3391:MTM1
3362:PTEN
3333:WNK1
3327:WNK4
3313:GRK1
3286:DMPK
3125:ARL6
3077:RAC2
3032:RAB7
3010:KRAS
2996:HRAS
2943:cAMP
2670:Bone
2571:Skin
2511:PHF8
2281:IPEX
1228:RDEB
1223:DDEB
894:GARD
883:NORD
812:MeSH
801:OMIM
790:9-CM
680:2017
643:PMID
581:PMID
532:PMID
457:ISBN
215:and
169:wart
153:The
3881:w/o
3499:NF2
3299:ATR
3188:BTK
3092:ARF
1616:KID
1612:HID
1375:PPK
1218:DEB
1189:JEB
1150:EBS
921:464
786:ICD
771:ICD
756:ICD
697:at
635:doi
623:405
571:doi
524:doi
489:doi
485:154
382:not
265:or
4458::
4053::
3094::
2949::
2427::
1773:,
1767:,
1762:,
1541::
1491::
1385::
1140:EB
1072:XR
1031::
1021:AR
1003:AD
970:/
919::
908::
897::
886::
875::
861::
850::
826::
815::
804::
793::
778::
775:10
763::
760:11
716:56
671:.
649:.
641:.
633:.
621:.
617:.
579:.
567:15
565:.
561:.
538:.
530:.
520:17
518:.
495:.
471:^
443:^
348:.
269:.
258:.
246:,
242:,
167:a
100:IP
4282:/
4138:)
4129:(
4049:/
3971:/
3966:/
3747:/
3645:/
3633:/
3623:e
3616:t
3609:v
3330:/
3168:/
2945:/
2836:e
2829:t
2822:v
2672:/
2615:/
2532:)
2530:1
2528:(
2493::
2470:/
2465::
2452::
2439::
2403::
2390::
2372::
2339:/
2218:e
2211:t
2204:v
2094:)
2090:(
2036:e
2029:t
2022:v
1743:/
1614:/
1363:/
1337:)
1333:(
1316:/
1302:/
1273:/
991:/
956:e
949:t
942:v
788:-
773:-
758:-
748:D
682:.
657:.
637::
629::
601:.
587:.
573::
546:.
526::
503:.
491::
465:.
376:(
302:(
185:.
98:(
34:.
20:)
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