109:. The vision problems associated with albinism are not usually present as eye pigmentation is normal. Piebaldism differs from albinism in that the affected cells maintain the ability to produce pigment but have that specific function turned off. In albinism the cells lack the ability to produce pigment altogether. Human piebaldism has been observed to be associated with a very wide range and varying degrees of endocrine disorders, and is occasionally found together with heterochromia of the irises, congenital deafness, or incomplete gastrointestinal tract development, possibly all with the common cause of premature cutting off of human fetal growth hormone during gestation. Piebaldism is a kind of
150:
37:
206:
Historically, persons with extensive piebaldism have experienced abuse of the sort still suffered in the present by albinos, especially in Africa. This has ranged from display of unclothed
African piebalds in "freak" shows and postcards of the early 20th century to the forcing of piebalds (as in the
113:, involving defects of various neural crest cell lineages that include melanocytes, but also involving many other tissues derived from the neural crest. Oncogenic factors, including mistranscription, are hypothesized to be related to the degree of phenotypic variation among affected individuals.
93:
Piebaldism has been documented to occur in all races, and is found in nearly every species of mammal. The condition is very common in mice, rabbits, dogs, sheep, deer, cattle and horses—where selective breeding has increased the incidence of the mutation—but occurs among chimpanzees and other
121:
Piebaldism is an autosomal dominant hereditary condition, which tends to produce high rates of inheritance and long chains of generational transmission. All who inherit the gene have at some time in life evidence of piebald hypopigmentation of the hair or skin, most likely both.
207:
case of albinos) to work long hours exposed to the sun (producing high rates of lethal skin cancers), to the use of piebald humans, including children, in risky medical experiments. The
National Organization of Albinism and Hypopigmentation, as well as organizations such as
81:
and a triangular shaped depigmented patch on the forehead. There is nevertheless great variation in the degree and pattern of presentation, even within affected families. In some cases, piebaldism occurs together with severe developmental problems, as in
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211:, work to promote awareness of all forms of cutaneous variation and their medical implications, and to highlight human rights issues, especially the plight of albinos subject to extreme persecution in parts of Africa.
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Sánchez-MartĂn M, PĂ©rez-Losada J, RodrĂguez-GarcĂa A, et al. (October 2003). "Deletion of the SLUG (SNAI2) gene results in human piebaldism".
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Usually diagnosed at birth with the appearance of patches of white skin on the arms, legs, stomach, forehead, and a white lock of hair.
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223:", and "bald", meaning "white patch" or spot. The reference is to the distinctive black-and-white plumage of the magpie.
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refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare
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Although "partial albinism" is a synonym for piebaldism, it is a fundamentally different condition from true
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Spritz, RA (1997). "Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development".
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415:"Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism"
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primates only as rarely as among humans. Piebaldism is unrelated to conditions such as
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325:"Piebaldism | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Mendelian
Inheritance in Man: A Catalog of Human Genes and Genetic Disorders
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The word "piebald" originates from a combination of "pie," from "
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development. Common characteristics include a congenital white
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with piebaldism as a form of entertainment and exoticism, and
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526:, Volume 1 (Johns Hopkins University Press, 1428-1429)
353:
James, William; Berger, Timothy; Elston, Dirk (2005).
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Junctional epidermolysis bullosa with pyloric atresia
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21:
2013:Inherited patterned lentiginosis in black persons
195:is believed to have painted several portraits of
2222:Eczematid-like purpura of Doucas and Kapetanakis
1106:Congenital insensitivity to pain with anhidrosis
419:Proceedings of the National Academy of Sciences
77:, scattered normal pigmented and hypopigmented
596:. Hertfordshire: Clarendon Press. p. 442.
1874:Yemenite deaf-blind hypopigmentation syndrome
1553:
751:
187:Early photographers took many photographs of
44:This condition affects melanocyte development
8:
851:Gonadotropin-releasing hormone insensitivity
125:Piebaldism may be associated with the genes
1942:Reticular pigmented anomaly of the flexures
1267:Congenital amegakaryocytic thrombocytopenia
593:The Concise Dictionary of English Etymology
2177:
1916:
1897:
1692:
1601:
1590:
1560:
1546:
1538:
1352:Autoimmune lymphoproliferative syndrome 1A
990:
835:Follicle-stimulating hormone insensitivity
786:
758:
744:
736:
609:
538:Seminars in Cutaneous Medicine and Surgery
35:
18:
1516:X-linked severe combined immunodeficiency
1292:TNF receptor associated periodic syndrome
456:
438:
2218:Doucas and Kapetanakis pigmented purpura
1947:Naegeli–Franceschetti–Jadassohn syndrome
1957:X-linked reticulate pigmentary disorder
1937:Reticulate acropigmentation of Kitamura
1932:Pigmentatio reticularis faciei et colli
1304:Selective immunoglobulin A deficiency 2
895:Aspirin-exacerbated respiratory disease
316:
203:tribe who were affected by piebaldism.
2329:Dyschromatosis universalis hereditaria
2134:Familial progressive hyperpigmentation
1479:EDAR hypohidrotic ectodermal dysplasia
1407:Familial exudative vitreoretinopathy 4
964:Familial exudative vitreoretinopathy 1
2324:Dyschromatosis symmetrica hereditaria
2159:Transient neonatal pustular melanosis
1171:Hereditary hemorrhagic telangiectasia
1147:Persistent MĂĽllerian duct syndrome II
918:Jansen's metaphyseal chondrodysplasia
413:Giebel, L. B.; Spritz, R. A. (1991).
7:
2149:Photoleukomelanodermatitis of Kobori
1927:Dermatopathia pigmentosa reticularis
1492:Nevoid basal-cell carcinoma syndrome
941:Familial hypocalciuric hypercalcemia
1255:Surfactant metabolism dysfunction 4
2410:Disturbances of human pigmentation
2154:Postinflammatory hyperpigmentation
2074:Poikiloderma vasculare atrophicans
1504:BMPR1A juvenile polyposis syndrome
1425:LDLR Familial hypercholesterolemia
14:
1859:Postinflammatory hypopigmentation
1803:Progressive macular hypomelanosis
815:Luteinizing hormone insensitivity
1793:Idiopathic guttate hypomelanosis
883:Nephrogenic diabetes insipidus 1
148:
2400:Amino acid metabolism disorders
2277:Titanium metallic discoloration
2033:Partial unilateral lentiginosis
823:Male-limited precocious puberty
2050:Erythema dyschromicum perstans
1210:Leber's congenital amaurosis 1
1122:Gastrointestinal stromal tumor
1:
2239:Hemosiderin hyperpigmentation
2198:Pigmented purpuric dermatosis
2144:Periorbital hyperpigmentation
1640:Vogt–Koyanagi–Harada syndrome
550:10.1016/s1085-5629(97)80031-4
2415:Disturbances of pigmentation
2405:Autosomal dominant disorders
2106:Shiitake mushroom dermatitis
2193:Iron metallic discoloration
1869:Vagabond's leukomelanoderma
803:Congenital hypothyroidism 1
577:Online Etymology Dictionary
2431:
2139:Pallister–Killian syndrome
1788:Albinism–deafness syndrome
1462:Glanzmann's thrombasthenia
1442:Immunoglobulin superfamily
1094:Rabson–Mendenhall syndrome
776:G protein-coupled receptor
2055:Lichen planus pigmentosus
2003:Centrofacial lentiginosis
1760:Griscelli syndrome type 3
1755:Griscelli syndrome type 2
1735:Hermansky–Pudlak syndrome
1316:Hyper-IgM syndrome type 3
590:Skeat, Walter W. (1882).
329:rarediseases.info.nih.gov
43:
34:
2008:Generalized lentiginosis
1740:Chédiak–Higashi syndrome
1391:Cenani–Lenz syndactylism
1233:Type I cytokine receptor
871:Hirschsprung's disease 2
397:MedlinePlus Encyclopedia
357:. (10th ed.). Saunders.
2069:Poikiloderma of Civatte
1705:Oculocutaneous albinism
1073:Thanatophoric dysplasia
867:Waardenburg syndrome 4a
440:10.1073/pnas.88.19.8696
2213:Gougerot–Blum syndrome
2096:Incontinentia pigmenti
1952:Dyskeratosis congenita
1879:Wende–Bauckus syndrome
1798:Phylloid hypomelanosis
1569:Pigmentation disorders
1527:cell surface receptors
1379:Donnai–Barrow syndrome
1053:Jackson–Weiss syndrome
1041:Antley–Bixler syndrome
1025:KAL2 Kallmann syndrome
979:Enzyme-linked receptor
819:Leydig cell hypoplasia
157:This section is empty.
88:Hirschsprung's disease
1635:Alezzandrini syndrome
1614:Quadrichrome vitiligo
839:XX gonadal dysgenesis
767:Cell surface receptor
2232:Angioma serpiginosum
2124:Acanthosis nigricans
1663:Waardenburg syndrome
1185:Loeys–Dietz syndrome
522:Victor A. McKusick,
494:10.1002/ajmg.a.20345
482:Am. J. Med. Genet. A
299:Waardenburg syndrome
264:Heterochromia iridum
84:Waardenburg syndrome
1962:Galli–Galli disease
1854:Nevus depigmentosus
431:1991PNAS...88.8696G
2208:Majocchi's disease
2101:Scratch dermatitis
2028:Mucosal lentigines
1828:Vasospastic macule
1745:Griscelli syndrome
1155:TGF beta receptors
699:External resources
402:Autosomal dominant
376:"Partial Albinism"
209:Under the Same Sun
67:autosomal dominant
2387:
2386:
2310:
2309:
2306:
2305:
2267:Arsenic poisoning
2203:Schamberg disease
2167:
2166:
2060:Café au lait spot
1887:
1886:
1811:
1810:
1750:Elejalde syndrome
1676:
1675:
1535:
1534:
1219:
1218:
1069:Hypochondroplasia
1045:Pfeiffer syndrome
1021:Pfeiffer syndrome
973:
972:
733:
732:
571:Harper, Douglas.
254:Mosaic (Genetics)
177:
176:
60:
59:
16:Medical condition
2422:
2178:
2018:Ink spot lentigo
1917:
1898:
1693:
1619:Vitiligo ponctué
1602:
1591:
1562:
1555:
1548:
1539:
1089:Donohue syndrome
1049:Crouzon syndrome
1009:Robinow syndrome
991:
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753:
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737:
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335:on 16 April 2019
331:. Archived from
321:
197:Native Americans
172:
169:
159:You can help by
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111:neurocristopathy
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19:
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2420:
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2249:
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2188:Hemochromatosis
2173:
2163:
2116:
2110:
2084:
2080:Riehl melanosis
2038:PUVA lentigines
2023:Lentigo maligna
1993:Lentigo simplex
1977:
1971:
1967:Revesz syndrome
1910:
1905:
1883:
1864:Pityriasis alba
1842:
1833:Woronoff's ring
1820:
1807:
1766:
1727:
1719:
1710:Ocular albinism
1686:
1672:
1650:
1644:
1623:
1595:
1584:
1575:
1566:
1536:
1531:
1435:Other/ungrouped
1430:
1411:Osteopetrosis 1
1357:
1272:
1215:
1190:
1127:
1077:Muenke syndrome
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2379:Depigmentation
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2350:Skin whitening
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2272:Lead poisoning
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1838:Nevus anemicus
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1778:Cross syndrome
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1668:Tietz syndrome
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1459:
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1432:
1431:
1429:
1428:
1415:
1414:
1403:Worth syndrome
1394:
1382:
1365:
1363:
1362:Lipid receptor
1359:
1358:
1356:
1355:
1343:
1331:
1319:
1307:
1295:
1282:
1280:
1274:
1273:
1271:
1270:
1259:
1258:
1246:
1243:Laron syndrome
1229:
1227:
1221:
1220:
1217:
1216:
1214:
1213:
1200:
1198:
1192:
1191:
1189:
1188:
1174:
1151:
1150:
1137:
1135:
1129:
1128:
1126:
1125:
1118:KIT Piebaldism
1109:
1097:
1091:
1080:
1065:Achondroplasia
1056:
1037:Apert syndrome
1028:
1012:
999:
997:
988:
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974:
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970:
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952:
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614:
613:Classification
606:
605:External links
603:
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599:
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472:
425:(19): 8696–9.
405:
388:
367:
346:
315:
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309:
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304:Xanthochromism
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189:African people
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2319:
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2313:
2299:
2298:Tar melanosis
2296:
2294:
2291:
2290:
2288:
2284:
2278:
2275:
2273:
2270:
2268:
2265:
2263:
2260:
2258:
2255:
2254:
2252:
2246:
2240:
2237:
2233:
2230:
2228:
2227:Lichen aureus
2225:
2223:
2219:
2216:
2214:
2211:
2209:
2206:
2204:
2201:
2200:
2199:
2196:
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2179:
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2137:
2135:
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2125:
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2121:
2119:
2113:
2107:
2104:
2102:
2099:
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2087:
2081:
2078:
2075:
2072:
2070:
2066:
2063:
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2056:
2053:
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2046:
2043:
2042:
2039:
2036:
2034:
2031:
2029:
2026:
2024:
2021:
2019:
2016:
2014:
2011:
2009:
2006:
2004:
2001:
1999:
1996:
1994:
1990:
1986:
1983:
1982:
1980:
1978:circumscribed
1974:
1968:
1965:
1963:
1960:
1958:
1955:
1953:
1950:
1948:
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1943:
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1938:
1935:
1933:
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1925:
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1908:
1903:
1899:
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1877:
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1852:
1851:
1849:
1845:
1839:
1836:
1834:
1831:
1829:
1826:
1825:
1823:
1821:hypomelanosis
1818:
1814:
1804:
1801:
1799:
1796:
1794:
1791:
1789:
1786:
1784:
1783:ABCD syndrome
1781:
1779:
1776:
1775:
1773:
1769:
1761:
1758:
1756:
1753:
1751:
1748:
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1234:
1231:
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1201:
1199:
1197:
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1123:
1119:
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1038:
1034:
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1018:
1017:
1013:
1010:
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1005:
1001:
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992:
989:
986:
985:growth factor
980:
976:
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949:
942:
938:
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933:
932:
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909:
907:
903:
896:
892:
891:
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884:
880:
879:
875:
872:
868:
864:
863:ABCD syndrome
860:
859:
855:
852:
848:
847:
843:
840:
836:
832:
831:
827:
824:
820:
816:
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811:
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792:
788:
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777:
773:
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749:
747:
742:
741:
738:
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721:
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697:
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686:
685:
681:
679:
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674:
670:
668:
664:
663:
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648:
644:
641:
637:
633:
632:
628:
624:
623:
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611:
604:
595:
594:
586:
583:
578:
574:
567:
564:
559:
555:
551:
547:
543:
539:
532:
529:
525:
519:
516:
511:
507:
503:
499:
495:
491:
488:(2): 125–32.
487:
483:
476:
473:
468:
464:
459:
454:
450:
446:
441:
436:
432:
428:
424:
420:
416:
409:
406:
403:
399:
398:
392:
389:
377:
371:
368:
364:
363:0-7216-2921-0
360:
356:
350:
347:
334:
330:
326:
320:
317:
310:
305:
302:
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297:
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245:
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237:
235:
232:
231:
226:
224:
222:
214:
212:
210:
204:
202:
198:
194:
193:George Catlin
190:
182:
180:
171:
162:
158:
154:
151:
147:
146:
140:
138:
136:
135:
130:
129:
123:
116:
114:
112:
108:
103:
101:
97:
91:
89:
85:
80:
76:
72:
68:
64:
56:
53:
51:
47:
42:
38:
33:
29:
25:
20:
2065:Poikiloderma
1989:Lentiginosis
1657:
1509:
1497:
1485:
1472:
1471:
1418:
1396:
1384:
1372:
1345:
1333:
1321:
1309:
1297:
1285:
1278:TNF receptor
1248:
1236:
1203:
1140:
1117:
1111:
1099:
1082:
1058:
1030:
1014:
1002:
957:
934:
911:
888:
876:
856:
844:
828:
808:
796:
769:deficiencies
717:
706:
682:
671:
660:
645:
625:
592:
585:
576:
566:
544:(1): 15–23.
541:
537:
531:
523:
518:
485:
481:
475:
422:
418:
408:
395:
391:
379:. Retrieved
370:
354:
349:
337:. Retrieved
333:the original
328:
319:
218:
205:
186:
178:
165:
161:adding to it
156:
132:
126:
124:
120:
104:
92:
69:disorder of
62:
61:
2293:Carotenosis
1920:Reticulated
1651:development
1597:melanocytes
779:(including
55:Dermatology
27:Other names
2394:Categories
2345:Skin color
2316:Dyschromia
2262:Chrysiasis
1998:Liver spot
1817:Leukoderma
1725:Melanosome
1658:Piebaldism
1649:Melanocyte
1573:Dyschromia
982:(including
684:DiseasesDB
311:References
244:Dyschromia
168:April 2017
71:melanocyte
63:Piebaldism
22:Piebaldism
2117:ungrouped
1907:Melanosis
1847:Ungrouped
1715:in humans
1688:amelanism
1628:Syndromic
1335:TNFRSF13B
1323:TNFRSF13C
1299:TNFRSF13B
708:eMedicine
573:"Piebald"
249:Erythrism
239:Amelanism
215:Etymology
141:Diagnosis
50:Specialty
2338:See also
2174:pigments
1976:Diffuse/
1912:Melanism
1728:transfer
1697:Albinism
1681:Loss of
1606:Vitiligo
1523:See also
1453:Integrin
1287:TNFRSF1A
1225:JAK-STAT
1159:Endoglin
719:Orphanet
713:derm/689
642:E70.350)
510:33811699
502:12955764
339:16 April
294:Vitiligo
289:Skewbald
284:Poliosis
274:Melanism
234:Albinism
227:See also
117:Genetics
107:albinism
100:poliosis
96:vitiligo
75:forelock
2372:removal
2360:Sunless
2355:Tanning
2257:Argyria
2129:Freckle
2045:Melasma
1985:Lentigo
1902:Melanin
1683:melanin
1594:Loss of
1586:leucism
1446:AGM3, 6
1347:TNFRSF6
1311:TNFRSF5
951:Class F
928:Class C
905:Class B
790:Class A
781:hormone
678:D016116
558:9125761
467:1717985
449:2358007
427:Bibcode
279:Piebald
269:Leucism
199:of the
183:History
79:macules
2367:Tattoo
2250:metals
2115:Other/
2089:Linear
1893:Hyper-
1499:BMPR1A
1250:CSF2RA
1205:GUCY2D
1181:TGFBR2
1177:TGFBR1
890:PTGER2
667:172800
656:709.09
556:
508:
500:
465:
455:
447:
381:Jan 1,
361:
221:magpie
201:Mandan
2286:Other
2248:Other
2172:Other
1771:Other
1581:Hypo-
1511:IL2RG
1487:PTCH1
1340:CVID2
1328:CVID4
1167:SMAD4
1163:Alk-1
1142:AMHR2
1101:NTRK1
1060:FGFR3
1032:FGFR2
1016:FGFR1
913:PTH1R
878:AVPR2
858:EDNRB
846:GnRHR
810:LHCGR
689:29295
636:E70.3
506:S2CID
458:52576
445:JSTOR
134:SNAI2
2181:Iron
1474:EDAR
1457:LAD1
1420:LDLR
1398:LRP5
1386:LRP4
1374:LRP2
1133:STPK
1084:INSR
1004:ROR2
959:FZD4
936:CASR
830:FSHR
798:TSHR
724:2884
673:MeSH
662:OMIM
651:9-CM
640:ILDS
554:PMID
498:PMID
486:122A
463:PMID
383:2024
359:ISBN
341:2019
259:PAX3
86:and
1819:w/o
1369:LRP
1263:MPL
1113:KIT
995:RTK
647:ICD
627:ICD
546:doi
490:doi
453:PMC
435:doi
163:.
131:or
128:KIT
98:or
30:PBT
2396::
1991::
1481:)
1455::
1444::
1409:,
1405:,
1371::
1238:GH
1235::
1196:GC
1157::
1120:,
1075:,
1071:,
1067:,
1051:,
1047:,
1043:,
1039:,
1023:,
869:,
865:,
837:,
821:,
817:,
722::
711::
687::
676::
665::
654::
634::
631:10
575:.
552:.
542:16
540:.
504:.
496:.
484:.
461:.
451:.
443:.
433:.
423:88
421:.
417:.
400::
327:.
137:.
102:.
90:.
2220:/
2076:)
2067:(
1987:/
1909:/
1904:/
1685:/
1583:/
1571:/
1561:e
1554:t
1547:v
1518:)
1514:(
1506:)
1502:(
1494:)
1490:(
1477:(
1427:)
1423:(
1413:)
1401:(
1393:)
1389:(
1381:)
1377:(
1354:)
1350:(
1342:)
1338:(
1330:)
1326:(
1318:)
1314:(
1306:)
1302:(
1294:)
1290:(
1269:)
1265:(
1257:)
1253:(
1245:)
1241:(
1212:)
1208:(
1187:)
1183:(
1179:/
1173:)
1169:(
1165:/
1161:/
1149:)
1145:(
1124:)
1116:(
1108:)
1104:(
1096:)
1087:(
1079:)
1063:(
1055:)
1035:(
1027:)
1019:(
1011:)
1007:(
987:)
966:)
962:(
943:)
939:(
920:)
916:(
897:)
893:(
885:)
881:(
873:)
861:(
853:)
849:(
841:)
833:(
825:)
813:(
805:)
801:(
783:)
759:e
752:t
745:v
649:-
638:(
629:-
619:D
579:.
560:.
548::
512:.
492::
469:.
437::
429::
385:.
365:.
343:.
170:)
166:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
