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Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000) Mutations in RAB27A cause
Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet
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68:") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections,
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Griscelli C, Durandy, A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691-702
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Type 1 is associated with neurological abnormalities. These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities.
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Type 2 - unlike type 1 - is not associated with primary neurological disease but is associated with an uncontrolled T
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Persons with type 3 have the typical light skin and hair coloring but are otherwise normal.
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This syndrome was first described in 1978. In 2000 types 1 and 2 were distinguished.
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102:. This latter condition may be fatal in the absence of bone marrow transplantation.
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Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
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All types of
Griscelli syndrome have distinctive skin and hair coloring.
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Deficiencies of intracellular signaling peptides and proteins
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This condition is inherited in an autosomal recessive manner
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All types are inherited in an autosomal recessive fashion.
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246:
James, William; Berger, Timothy; Elston, Dirk (2005).
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846:Inherited patterned lentiginosis in black persons
1055:Eczematid-like purpura of Doucas and Kapetanakis
133:Both these genes are located on the long arm of
113:There are three types of Griscelli syndrome.
2000:intracellular signaling peptides and proteins
1238:
707:Yemenite deaf-blind hypopigmentation syndrome
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8:
775:Reticular pigmented anomaly of the flexures
171:(neuroectodermal melanolysosomal disease).
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1862:EDARADD Hypohidrotic ectodermal dysplasia
1051:Doucas and Kapetanakis pigmented purpura
780:Naegeli–Franceschetti–Jadassohn syndrome
790:X-linked reticulate pigmentary disorder
770:Reticulate acropigmentation of Kitamura
765:Pigmentatio reticularis faciei et colli
239:
126:Type 2 is associated with mutations in
1162:Dyschromatosis universalis hereditaria
967:Familial progressive hyperpigmentation
66:partial albinism with immunodeficiency
18:Partial albinism with immunodeficiency
1157:Dyschromatosis symmetrica hereditaria
992:Transient neonatal pustular melanosis
7:
1493:Neutrophil immunodeficiency syndrome
1376:Albright's hereditary osteodystrophy
982:Photoleukomelanodermatitis of Kobori
760:Dermatopathia pigmentosa reticularis
143:is associated with mutations in the
119:is associated with mutations in the
1847:Signal transducing adaptor proteins
2020:Disturbances of human pigmentation
1431:KRAS Cardiofaciocutaneous syndrome
1322:X-linked intellectual disability 1
1317:Juvenile primary lateral sclerosis
987:Postinflammatory hyperpigmentation
907:Poikiloderma vasculare atrophicans
98:. It is often associated with the
25:
1778:Bannayan–Riley–Ruvalcaba syndrome
692:Postinflammatory hypopigmentation
636:Progressive macular hypomelanosis
1366:Progressive osseous heteroplasia
626:Idiopathic guttate hypomelanosis
182:
1971:PRKCSH Polycystic liver disease
1110:Titanium metallic discoloration
866:Partial unilateral lentiginosis
1957:Wolff–Parkinson–White syndrome
1361:Pseudopseudohypoparathyroidism
1260:GTP-binding protein regulators
883:Erythema dyschromicum perstans
96:macrophage activation syndrome
1:
1565:Cardiofaciocutaneous syndrome
1513:Chylomicron retention disease
1072:Hemosiderin hyperpigmentation
1031:Pigmented purpuric dermatosis
977:Periorbital hyperpigmentation
473:Vogt–Koyanagi–Harada syndrome
1807:X-linked myotubular myopathy
939:Shiitake mushroom dermatitis
1604:X-linked agammaglobulinemia
1448:Charcot–Marie–Tooth disease
1026:Iron metallic discoloration
702:Vagabond's leukomelanoderma
2041:
1307:Marinesco–Sjögren syndrome
972:Pallister–Killian syndrome
621:Albinism–deafness syndrome
1995:
1915:Neurofibromatosis type II
1749:Pseudohypoaldosteronism 2
1476:Griscelli syndrome type 2
1269:GTPase-activating protein
888:Lichen planus pigmentosus
836:Centrofacial lentiginosis
593:Griscelli syndrome type 3
588:Griscelli syndrome type 2
568:Hermansky–Pudlak syndrome
62:Griscelli syndrome type 2
54:
45:
33:Griscelli syndrome type 2
1783:Lhermitte–Duclos disease
1381:McCune–Albright syndrome
1371:Pseudohypoparathyroidism
1277:Neurofibromatosis type I
841:Generalized lentiginosis
573:Chédiak–Higashi syndrome
250:. (10th ed.). Saunders.
165:Chediak-Higashi syndrome
1541:Bardet–Biedl syndrome 3
902:Poikiloderma of Civatte
538:Oculocutaneous albinism
100:hemophagocytic syndrome
1689:Peutz–Jeghers syndrome
1675:Incontinentia pigmenti
1661:Li–Fraumeni syndrome 2
1312:Aarskog–Scott syndrome
1046:Gougerot–Blum syndrome
929:Incontinentia pigmenti
785:Dyskeratosis congenita
712:Wende–Bauckus syndrome
631:Phylloid hypomelanosis
402:Pigmentation disorders
191:This section is empty.
159:Differential diagnosis
1793:Proteus-like syndrome
1647:Coffin-Lowry syndrome
468:Alezzandrini syndrome
447:Quadrichrome vitiligo
1701:Myotonic dystrophy 1
1065:Angioma serpiginosum
957:Acanthosis nigricans
496:Waardenburg syndrome
795:Galli–Galli disease
687:Nevus depigmentosus
1831:Metachondromatosis
1527:Joubert syndrome 8
1462:Carpenter syndrome
1297:Guanine nucleotide
1287:Tuberous sclerosis
1041:Majocchi's disease
934:Scratch dermatitis
861:Mucosal lentigines
661:Vasospastic macule
578:Griscelli syndrome
345:External resources
228:Griscelli syndrome
2007:
2006:
1841:
1840:
1821:Noonan syndrome 1
1715:Seckel syndrome 1
1551:
1550:
1426:Noonan syndrome 3
1412:Costello syndrome
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1100:Arsenic poisoning
1036:Schamberg disease
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893:Café au lait spot
720:
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583:Elejalde syndrome
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508:
368:
367:
211:
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169:Elejalde syndrome
59:
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27:Medical condition
16:(Redirected from
2032:
1826:LEOPARD syndrome
1729:Oguchi disease 2
1630:Serine/threonine
1618:ZAP70 deficiency
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851:Ink spot lentigo
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452:Vitiligo ponctué
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193:You can help by
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74:thrombocytopenia
64:(also known as "
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1788:Cowden syndrome
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1282:Watson syndrome
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1021:Hemochromatosis
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913:Riehl melanosis
871:PUVA lentigines
856:Lentigo maligna
826:Lentigo simplex
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800:Revesz syndrome
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697:Pityriasis alba
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666:Woronoff's ring
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1093:
1091:
1088:
1087:
1085:
1079:
1073:
1070:
1066:
1063:
1061:
1060:Lichen aureus
1058:
1056:
1052:
1049:
1047:
1044:
1042:
1039:
1037:
1034:
1033:
1032:
1029:
1027:
1024:
1022:
1019:
1018:
1016:
1012:
1009:
1003:
993:
990:
988:
985:
983:
980:
978:
975:
973:
970:
968:
965:
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960:
958:
955:
954:
952:
946:
940:
937:
935:
932:
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927:
926:
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914:
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905:
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899:
896:
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869:
867:
864:
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859:
857:
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849:
847:
844:
842:
839:
837:
834:
832:
829:
827:
823:
819:
816:
815:
813:
811:circumscribed
807:
801:
798:
796:
793:
791:
788:
786:
783:
781:
778:
776:
773:
771:
768:
766:
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758:
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755:
751:
748:
746:
741:
736:
732:
729:
727:
723:
713:
710:
708:
705:
703:
700:
698:
695:
693:
690:
688:
685:
684:
682:
678:
672:
669:
667:
664:
662:
659:
658:
656:
654:hypomelanosis
651:
647:
637:
634:
632:
629:
627:
624:
622:
619:
617:
616:ABCD syndrome
614:
612:
609:
608:
606:
602:
594:
591:
589:
586:
584:
581:
580:
579:
576:
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571:
569:
566:
565:
563:
559:
555:
549:
546:
544:
541:
539:
536:
535:
533:
531:
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522:
517:
512:
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499:
497:
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489:
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486:
480:
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469:
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463:
459:
453:
450:
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442:
440:
436:
433:
431:
425:
422:
420:
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411:
407:
403:
396:
391:
389:
384:
382:
377:
376:
373:
360:
356:
355:
351:
350:
347:
343:
336:
332:
331:
327:
325:
321:
320:
316:
313:
312:
308:
304:
303:
300:
295:
291:
284:
273:
270:
264:
261:
257:
256:0-7216-2921-0
253:
249:
243:
240:
233:
229:
226:
225:
221:
219:
213:
205:
196:
192:
188:
185:
181:
180:
174:
172:
170:
166:
158:
153:
151:
148:
146:
142:
138:
136:
135:chromosome 15
131:
129:
124:
122:
118:
114:
108:
106:
103:
101:
97:
93:
88:
85:
79:
77:
75:
71:
67:
63:
53:
49:
44:
40:
36:
31:
19:
1997:
1977:
1963:
1949:
1935:
1921:
1907:
1882:
1868:
1854:
1813:
1799:
1770:
1741:
1735:
1721:
1707:
1681:
1667:
1653:
1639:
1610:
1596:
1533:
1519:
1505:
1485:
1475:
1468:
1454:
1440:
1418:
1404:
898:Poikiloderma
822:Lentiginosis
587:
352:
328:
317:
305:
272:
263:
247:
242:
217:
199:
195:adding to it
190:
162:
149:
139:
132:
125:
115:
112:
104:
89:
86:
83:
80:Presentation
65:
61:
60:
1763:phosphatase
1580:phosphatase
1126:Carotenosis
753:Reticulated
484:development
430:melanocytes
70:neutropenia
38:Other names
2014:Categories
1890:Zaspopathy
1557:MAP kinase
1178:Skin color
1149:Dyschromia
1095:Chrysiasis
831:Liver spot
650:Leukoderma
558:Melanosome
491:Piebaldism
482:Melanocyte
406:Dyschromia
277:25:173-176
234:References
92:lymphocyte
2025:Syndromes
1998:See also
1876:Cherubism
1396:Monomeric
1336:G protein
950:ungrouped
740:Melanosis
680:Ungrouped
548:in humans
521:amelanism
461:Syndromic
175:Treatment
154:Diagnosis
137:(15q21).
1761:Tyrosine
1171:See also
1007:pigments
809:Diffuse/
745:Melanism
561:transfer
530:Albinism
514:Loss of
439:Vitiligo
354:Orphanet
222:See also
109:Genetics
1937:PRKAR1A
1929:CADASIL
1923:Notch 3
1856:EDARADD
1641:RPS6KA3
1205:removal
1193:Sunless
1188:Tanning
1090:Argyria
962:Freckle
878:Melasma
818:Lentigo
735:Melanin
516:melanin
427:Loss of
419:leucism
335:C537302
314:: E70.3
214:History
130:gene.
1965:PRKCSH
1951:PRKAG2
1870:SH3BP2
1815:PTPN11
1632:kinase
1576:kinase
1574:Other
1521:ARL13B
1200:Tattoo
1083:metals
948:Other/
922:Linear
726:Hyper-
324:607624
254:
147:gene.
141:Type 3
128:RAB27A
117:Type 1
72:, and
1985:XIAP2
1901:Other
1683:STK11
1669:IKBKG
1655:CHEK2
1612:ZAP70
1507:SAR1B
1484:RHO:
1470:RAB27
1456:RAB23
1439:RAB:
1403:RAS:
1386:CGL 2
1357:GNAS1
1119:Other
1081:Other
1005:Other
604:Other
414:Hypo-
359:79477
123:gene
121:MYO5A
1979:XIAP
1884:LDB3
1801:MTM1
1772:PTEN
1743:WNK1
1737:WNK4
1723:GRK1
1696:DMPK
1535:ARL6
1487:RAC2
1442:RAB7
1420:KRAS
1406:HRAS
1353:cAMP
1014:Iron
330:MeSH
319:OMIM
252:ISBN
167:and
145:MLPH
1909:NF2
1709:ATR
1598:BTK
1502:ARF
652:w/o
307:ICD
197:.
2016::
1504::
1359::
824::
357::
333::
322::
311:10
76:.
1740:/
1578:/
1355:/
1246:e
1239:t
1232:v
1053:/
909:)
900:(
820:/
742:/
737:/
518:/
416:/
404:/
394:e
387:t
380:v
309:-
299:D
258:.
204:)
200:(
20:)
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