Abstract
Human variability is most strikingly defined by variations in skin and hair color. Skin pigmentation is primarily a result of melanocyte functioning. However, surrounding keratinocytes, extracellular matrix proteins and dermal fibroblasts also play a role in cutaneous homeostasis and the phenotypic demonstration of color.
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References
Silverberg NB. Pediatric vitiligo. Pediatr Clin North Am. 2014;61(2):347–66.
Alikhan A, Felsten LM, Daly M, Petronic-Rosic V. Vitiligo: a comprehensive overview Part I. Introduction, epidemiology, quality of life, diagnosis, differential diagnosis, associations, histopathology, etiology, and work-up. J Am Acad Dermatol. 2011;65(3):473–91.
Kovacs SO. Vitiligo. J Am Acad Dermatol. 1998;38(5 Pt 1):647–66; quiz 667–668.
Gan EY, Cario-Andre M, Pain C, Goussot JF, Taieb A, Seneschal J, Ezzedine K. Follicular vitiligo: a report of 8 cases. J Am Acad Dermatol. 2016;74:1178–84.
Spritz RA. Modern vitiligo genetics sheds new light on an ancient disease. J Dermatol. 2013;40(5):310–8.
Erener S, Petrilli V, Kassner I, Minotti R, Castillo R, Santoro R, Hassa PO, Tschopp J, Hottiger MO. Inflammasome-activated caspase 7 cleaves PARP1 to enhance the expression of a subset of NF-kappaB target genes. Mol Cell. 2012;46(2):200–11.
Richmond JM, Frisoli ML, Harris JE. Innate immune mechanisms in vitiligo: danger from within. Curr Opin Immunol. 2013;25(6):676–82.
Roychoudhuri R, Hirahara K, Mousavi K, Clever D, Klebanoff CA, Bonelli M, Sciume G, Zare H, Vahedi G, Dema B, Yu Z, Liu H, Takahashi H, Rao M, Muranski P, Crompton JG, Punkosdy G, Bedognetti D, Wang E, Hoffmann V, Rivera J, Marincola FM, Nakamura A, Sartorelli V, Kanno Y, Gattinoni L, Muto A, Igarashi K, O’Shea JJ, Restifo NP. BACH2 represses effector programs to stabilize T(reg)-mediated immune homeostasis. Nature. 2013;498(7455):506–10.
van den Wijngaard R, Wankowicz-Kalinska A, Le Poole C, Tigges B, Westerhof W, Das P. Local immune response in skin of generalized vitiligo patients. Destruction of melanocytes is associated with the prominent presence of CLA+ T cells at the perilesional site. Lab Invest. 2000;80(8):1299–309.
Ogg GS, Rod Dunbar P, Romero P, Chen JL, Cerundolo V. High frequency of skin-homing melanocyte-specific cytotoxic T lymphocytes in autoimmune vitiligo. J Exp Med. 1998;188(6):1203–8.
Wankowicz-Kalinska A, van den Wijngaard RM, Tigges BJ, Westerhof W, Ogg GS, Cerundolo V, Storkus WJ, Das PK. Immunopolarization of CD4+ and CD8+ T cells to Type-1-like is associated with melanocyte loss in human vitiligo. Lab Invest. 2003;83(5):683–95.
van den Boorn JG, Konijnenberg D, Dellemijn TA, van der Veen JP, Bos JD, Melief CJ, Vyth-Dreese FA, Luiten RM. Autoimmune destruction of skin melanocytes by perilesional T cells from vitiligo patients. J Invest Dermatol. 2009;129(9):2220–32.
Kemp EH, Waterman EA, Gawkrodger DJ, Watson PF, Weetman AP. Autoantibodies to tyrosinase-related protein-1 detected in the sera of vitiligo patients using a quantitative radiobinding assay. Br J Dermatol. 1998;139(5):798–805.
Okamoto T, Irie RF, Fujii S, Huang SK, Nizze AJ, Morton DL, Hoon DS. Anti-tyrosinase-related protein-2 immune response in vitiligo patients and melanoma patients receiving active-specific immunotherapy. J Invest Dermatol. 1998;111(6):1034–9.
Palermo B, Campanelli R, Garbelli S, Mantovani S, Lantelme E, Brazzelli V, Ardigo M, Borroni G, Martinetti M, Badulli C, Necker A, Giachino C. Specific cytotoxic T lymphocyte responses against Melan-A/MART1, tyrosinase and gp100 in vitiligo by the use of major histocompatibility complex/peptide tetramers: the role of cellular immunity in the etiopathogenesis of vitiligo. J Invest Dermatol. 2001;117(2):326–32.
Jimbow K, Chen H, Park JS, Thomas PD. Increased sensitivity of melanocytes to oxidative stress and abnormal expression of tyrosinase-related protein in vitiligo. Br J Dermatol. 2001;144(1):55–65.
Maresca V, Roccella M, Roccella F, Camera E, Del Porto G, Passi S, Grammatico P, Picardo M. Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo. J Invest Dermatol. 1997;109(3):310–3.
Koca R, Armutcu F, Altinyazar HC, Gurel A. Oxidant-antioxidant enzymes and lipid peroxidation in generalized vitiligo. Clin Exp Dermatol. 2004;29(4):406–9.
Ghosh S, Mukhopadhyay S. Chemical leucoderma: a clinico-aetiological study of 864 cases in the perspective of a developing country. Br J Dermatol. 2009;160(1):40–7.
Mosher DB, Parrish JA, Fitzpatrick TB. Monobenzylether of hydroquinone. A retrospective study of treatment of 18 vitiligo patients and a review of the literature. Br J Dermatol. 1977;97(6):669–79.
Yu R, Broady R, Huang Y, Wang Y, Yu J, Gao M, Levings M, Wei S, Zhang S, Xu A, Su M, Dutz J, Zhang X, Zhou Y. Transcriptome analysis reveals markers of aberrantly activated innate immunity in vitiligo lesional and non-lesional skin. PLoS One. 2012;7(12), e51040.
Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004;43(10):716–9.
Lopez V, Jorda E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011;17(2):13.
Jimbow K, Fitzpatrick TB, Szabo G, Hori Y. Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus, and piebaldism. J Invest Dermatol. 1975;64(1):50–62.
Nagao S, Iijima S, Shima T. Mast cells in the epidermis of piebaldism. Arch Dermatol Forsch. 1975;251(3):221–5.
Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009;18(9):741–9.
Fleischman RA, Gallardo T, Mi X. Mutations in the ligand-binding domain of the kit receptor: an uncommon site in human piebaldism. J Invest Dermatol. 1996;107(5):703–6.
Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, Gonzalez-Sanchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sanchez-Garcia I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003;122A(2):125–32.
Perez-Losada J, Sanchez-Martin M, Rodriguez-Garcia A, Sanchez ML, Orfao A, Flores T, Sanchez-Garcia I. Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. Blood. 2002;100(4):1274–86.
Kim SK, Kim EH, Kang HY, Lee E-S, Sohn S, Kim YC. Comprehensive understanding of idiopathic guttate hypomelanosis: clinical and histopathological correlation. Int J Dermatol. 2010;49(2):162–6.
Cummings KI, Cottel WI. Idiopathic guttate hypomelanosis. Arch Dermatol. 1966;93(2):184–6.
Falabella R, Escobar C, Giraldo N, Rovetto P, Gil J, Barona MI, Acosta F, Alzate A. On the pathogenesis of idiopathic guttate hypomelanosis. J Am Acad Dermatol. 1987;16(1 Pt 1):35–44.
Arrunategui A, Trujillo RA, Marulanda MP, Sandoval F, Wagner A, Alzate A, Falabella R. HLA-DQ3 is associated with idiopathic guttate hypomelanosis, whereas HLA-DR8 is not, in a group of renal transplant patients. Int J Dermatol. 2002;41(11):744–7.
Maia M, Volpini BM, Santos GA, Rujula MJ. Quality of life in patients with oculocutaneous albinism. An Bras Dermatol. 2015;90(4):513–7.
King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest. 1991;87(3):1046–53.
Kugelman TP, Van Scott EJ. Tyrosinase activity in melanocytes of human Albinos1. J Invest Dermatol. 1961;37(1):73–6.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. Hum Mutat. 2013;34(6):827–35.
King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Hum Genet. 2003;113(6):502–13.
Oetting WS, Pietsch J, Brott MJ, Savage S, Fryer JP, Summers CG, King RA. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A. 2009;149A(3):466–9.
Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. 2004;131C(1):75–81.
Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ. The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002;15(3):217–24.
Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001;14(6):437–44.
Kobayashi T, Hearing VJ. Direct interaction of tyrosinase with Tyrp1 to form heterodimeric complexes in vivo. J Cell Sci. 2007;120(Pt 24):4261–8.
Costin GE, Valencia JC, Vieira WD, Lamoreux ML, Hearing VJ. Tyrosinase processing and intracellular trafficking is disrupted in mouse primary melanocytes carrying the underwhite (uw) mutation. A model for oculocutaneous albinism (OCA) type 4. J Cell Sci. 2003;116(Pt 15):3203–12.
Cullinane AR, Vilboux T, O’Brien K, Curry JA, Maynard DM, Carlson-Donohoe H, Ciccone C, Markello TC, Gunay-Aygun M, Huizing M, Gahl WA. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J Invest Dermatol. 2011;131(10):2017–25.
Giebel LB, Tripathi RK, King RA, Spritz RA. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest. 1991;87(3):1119–22.
Scheinfeld NS. Syndromic albinism: a review of genetics and phenotypes. Dermatol Online J. 2003;9(5):5.
Al-Herz W, Nanda A. Skin manifestations in primary immunodeficient children. Pediatr Dermatol. 2011;28(5):494–501.
Roy A, Kar R, Basu D, Srivani S, Badhe BA. Clinico-hematological profile of Chediak-Higashi syndrome: experience from a tertiary care center in south India. Indian J Pathol Microbiol. 2011;54(3):547–51.
Carrillo-Farga J, Gutiérrez-Palomera G, Ruiz-Maldonado R, Rondán A, Antuna S. Giant cytoplasmic granules in Langerhans cells of Chediak-Higashi syndrome. Am J Dermatopathol. 1990;12(1):81–7.
Karim MA, Nagle DL, Kandil HH, Burger J, Moore KJ, Spritz RA. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet. 1997;6(7):1087–9.
Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault Jr BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996;14(3):307–11.
Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost. 2001;86(1):233–45.
Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J. The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. J Biol Chem. 1997;272(47):29790–4.
Marques GF, Tonello CS, Sousa JM. Incontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis. An Bras Dermatol. 2014;89(3):486–9.
Hadj-Rabia S, Froidevaux D, Bodak N, Hamel-Teillac D, Smahi A, Touil Y, Fraitag S, de Prost Y, Bodemer C. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol. 2003;139(9):1163–70.
Thyresson NH, Goldberg NC, Tye MJ, Leiferman KM. Localization of eosinophil granule major basic protein in incontinentia pigmenti. Pediatr Dermatol. 1991;8(2):102–6.
Scardamaglia L, Howard A, Sinclair R. Twenty-nail dystrophy in a girl with incontinentia pigmenti. Australas J Dermatol. 2003;44(1):71–3.
Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israel A, Nelson DL. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001;68(3):765–71.
Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67(6):1555–62.
Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, Israel A, Heiss NS, Klauck SM, Kioschis P, Wiemann S, Poustka A, Esposito T, Bardaro T, Gianfrancesco F, Ciccodicola A, D’Urso M, Woffendin H, Jakins T, Donnai D, Stewart H, Kenwrick SJ, Aradhya S, Yamagata T, Levy M, Lewis RA, Nelson DL. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000;405(6785):466–72.
Rothwarf DM, Zandi E, Natoli G, Karin M. IKK-gamma is an essential regulatory subunit of the IkappaB kinase complex. Nature. 1998;395(6699):297–300.
Rudolph D, Yeh WC, Wakeham A, Rudolph B, Nallainathan D, Potter J, Elia AJ, Mak TW. Severe liver degeneration and lack of NF-kappaB activation in NEMO/IKKgamma-deficient mice. Genes Dev. 2000;14(7):854–62.
Makris C, Godfrey VL, Krahn-Senftleben G, Takahashi T, Roberts JL, Schwarz T, Feng L, Johnson RS, Karin M. Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti. Mol Cell. 2000;5(6):969–79.
Schmidt-Supprian M, Bloch W, Courtois G, Addicks K, Israel A, Rajewsky K, Pasparakis M. NEMO/IKK gamma-deficient mice model incontinentia pigmenti. Mol Cell. 2000;5(6):981–92.
Nenci A, Huth M, Funteh A, Schmidt-Supprian M, Bloch W, Metzger D, Chambon P, Rajewsky K, Krieg T, Haase I, Pasparakis M. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling. Hum Mol Genet. 2006;15(4):531–42.
Takematsu H, Terui T, Torinuki W, Tagami H. Incontinentia pigmenti: eosinophil chemotactic activity of the crusted scales in the vesiculobullous stage. Br J Dermatol. 1986;115(1):61–6.
Tsuda S, Higuchi M, Ichiki M, Sasai Y. Demonstration of eosinophil chemotactic factor in the blister fluid of patient with incontinentia pigmenti. J Dermatol. 1985;12(4):363–8.
Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47(2):169–87; quiz 188–190.
Grossberg AL. Update on pediatric photosensitivity disorders. Curr Opin Pediatr. 2013;25(4):474–9.
Viana Fde O, Cavaleiro LH, Carneiro CM, Bittencourt Mde J, Barros RS, Fonseca DM. Do you know this syndrome? Xeroderma pigmentosum (XP). An Bras Dermatol. 2011;86(5):1029.
Ali JT, Mukasa Y, Coulson IH. Xeroderma pigmentosum: early diagnostic features and an adverse consequence of photoprotection. Clin Exp Dermatol. 2009;34(3):442–3.
Karalis A, Tischkowitz M, Millington GW. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol. 2011;164(2):245–56.
Kraemer KH, Slor H. Xeroderma pigmentosum. Clin Dermatol. 1985;3(1):33–69.
Kato T, Akiba H, Seiji M, Tohda H, Oikawa A. Clinical and biological studies of 26 cases of xeroderma pigmentosum in northeast district of Japan. Arch Dermatol Res. 1985;277(1):1–7.
LeSueur BW, Silvis NG, Hansen RC. Basal cell carcinoma in children: report of 3 cases. Arch Dermatol. 2000;136(3):370–2.
Youssef N, Vabres P, Buisson T, Brousse N, Fraitag S. Two unusual tumors in a patient with xeroderma pigmentosum: atypical fibroxanthoma and basosquamous carcinoma. J Cutan Pathol. 1999;26(9):430–5.
Khatri ML, Shafi M, Mashina A. Xeroderma pigmentosum. A clinical study of 24 Libyan cases. J Am Acad Dermatol. 1992;26(1):75–8.
Fazaa B, Zghal M, Bailly C, Zeglaoui F, Goucha S, Mokhtar I, Kharfi M, Ezzine N, Kamoun MR. Melanoma in xeroderma pigmentosum: 12 cases. Ann Dermatol Venereol. 2001;128(4):503–6.
Patterson JW, Jordan Jr WP. Atypical fibroxanthoma in a patient with xeroderma pigmentosum. Arch Dermatol. 1987;123(8):1066–70.
Kars SA, Koc Y, Ruacan S, Baltali E, Tekuzman G, Firat D. Epidermal appendage tumors in xeroderma pigmentosum. Arch Dermatol. 1987;123(6):713–4.
Poiares Baptista A, Tellechea O, Reis JP, Cunha MF, Figueiredo P. Eccrine porocarcinoma. A review of 24 cases. Ann Dermatol Venereol. 1993;120(1):107–15.
Cleaver JE. Defective repair replication of DNA in xeroderma pigmentosum. Nature. 1968;218(5142):652–6.
Epstein JH, Fukuyama K, Reed WB, Epstein WL. Defect in DNA synthesis in skin of patients with xeroderma pigmentosum demonstrated in vivo. Science. 1970;168(3938):1477–8.
Cleaver JE, Lam ET, Revet I. Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity. Nat Rev Genet. 2009;10(11):756–68.
Sarasin A, Monier R. DNA repair pathways and associated human diseases. Biochimie. 2003;85(11):1041.
Black JO. Xeroderma pigmentosum. Head Neck Pathol. 2016;10(2):139–44.
DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol. 2012;132(3 Pt 2):785–96.
Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, Trujillo JP, Minguillon J, Ramirez MJ, Pujol R, Casado JA, Banos R, Rio P, Knies K, Zuniga S, Benitez J, Bueren JA, Jaspers NG, Scharer OD, de Winter JP, Schindler D, Surralles J. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013;92(5):800–6.
Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013;92(5):807–19.
Kannouche P, Stary A. Xeroderma pigmentosum variant and error-prone DNA polymerases. Biochimie. 2003;85(11):1123–32.
Yuasa M, Masutani C, Eki T, Hanaoka F. Genomic structure, chromosomal localization and identification of mutations in the xeroderma pigmentosum variant (XPV) gene. Oncogene. 2000;19(41):4721–8.
Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, Plon SE. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001;102(1):11–7.
Silverberg NB, Biro DE, Laude TA. What syndrome is this? Rothmund-Thomson syndrome (poikiloderma congenitale). Pediatr Dermatol. 1999;16(1):59–61.
Vennos EM, Collins M, James WD. Rothmund-Thomson syndrome: review of the world literature. J Am Acad Dermatol. 1992;27(5 Pt 1):750–62.
Kitao S, Shimamoto A, Goto M, Miller RW, Smithson WA, Lindor NM, Furuichi Y. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999;22(1):82–4.
Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003;95(9):669–74.
Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. Cancer Lett. 2006;232(1):107–20.
Croteau DL, Singh DK, Hoh Ferrarelli L, Lu H, Bohr VA. RECQL4 in genomic instability and aging. Trends Genet. 2012;28(12):624–31.
Kellermayer R. The versatile RECQL4. Genet Med. 2006;8(4):213–6.
Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M. Growth retardation and skin abnormalities of the Recql4-deficient mouse. Hum Mol Genet. 2003;12(18):2293–9.
Shah H, Sheth FJ, Pandit VS, Langanecha B. Bloom syndrome: report of two cases in siblings. Int J Dermatol. 2013;52(8):990–2.
Inamadar AC, Palit A. Bloom syndrome in an Indian child. Pediatr Dermatol. 2005;22(2):147–50.
Sahn EE, Hussey 3rd RH, Christmann LM. A case of Bloom syndrome with conjunctival telangiectasia. Pediatr Dermatol. 1997;14(2):120–4.
Grob M, Wyss M, Spycher MA, Dommann S, Schinzel A, Burg G, Trueb RM. Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. J Cutan Pathol. 1998;25(5):275–8.
Sires UI, Mallory SB, Hess JL, Keating JP, Bloomberg G, Dehner LP. Cutaneous presentation of juvenile chronic myelogenous leukemia: a diagnostic and therapeutic dilemma. Pediatr Dermatol. 1995;12(4):364–8.
Ellis NA, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S, Proytcheva M, German J. The Bloom’s syndrome gene product is homologous to RecQ helicases. Cell. 1995;83(4):655–66.
Karow JK, Wu L, Hickson ID. RecQ family helicases: roles in cancer and aging. Curr Opin Genet Dev. 2000;10(1):32–8.
Langland G, Elliott J, Li Y, Creaney J, Dixon K, Groden J. The BLM helicase is necessary for normal DNA double-strand break repair. Cancer Res. 2002;62(10):2766–70.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J. Bloom syndrome. Int J Dermatol. 2014;53(7):798–802.
Cleary SP, Zhang W, Di Nicola N, Aronson M, Aube J, Steinman A, Haddad R, Redston M, Gallinger S, Narod SA, Gryfe R. Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res. 2003;63(8):1769–71.
Wechsler T, Newman S, West SC. Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Nature. 2011;471(7340):642–6.
Amor-Gueret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006;236(1):1–12.
Vijayalaxmi, Evans HJ, Ray JH, German J. Bloom’s syndrome: evidence for an increased mutation frequency in vivo. Science. 1983;221(4613):851–3.
Warren ST, Schultz RA, Chang CC, Wade MH, Trosko JE. Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. Proc Natl Acad Sci U S A. 1981;78(5):3133–7.
Xu AE, Huang B, Li YW, Wang P, Shen H. Clinical, histopathological and ultrastructural characteristics of naevus depigmentosus. Clin Exp Dermatol. 2008;33(4):400–5.
Kim SK, Kang HY, Lee E-S, Kim YC. Clinical and histopathologic characteristics of nevus depigmentosus. J Am Acad Dermatol. 2006;55(3):423–8.
Lee HS, Chun YS, Hann SK. Nevus depigmentosus: clinical features and histopathologic characteristics in 67 patients. J Am Acad Dermatol. 1999;40(1):21–6.
Jung Kim S, English 3rd JC. Minocycline-induced hyperpigmentation. J Pediatr Adolesc Gynecol. 2012;25(1):77–8.
Dereure O. Drug-induced skin pigmentation. Epidemiology, diagnosis and treatment. Am J Clin Dermatol. 2001;2(4):253–62.
Hendrix JD, Greer KE. Cutaneous hyperpigmentation caused by systemic drugs. Int J Dermatol. 1992;31(7):458–66.
Delage C, Lagace R, Huard J. Pseudocyanotic pigmentation of the skin induced by amiodarone: a light and electron microscopic study. Can Med Assoc J. 1975;112(10):1205–8.
Fitzpatrick JE. New histopathologic findings in drug eruptions. Dermatol Clin. 1992;10(1):19–36.
Argenyi ZB, Finelli L, Bergfeld WF, Tuthill RJ, McMahon JT, Ratz JL, Petroff N. Minocycline-related cutaneous hyperpigmentation as demonstrated by light microscopy, electron microscopy and X-ray energy spectroscopy. J Cutan Pathol. 1987;14(3):176–80.
Bowen AR, McCalmont TH. The histopathology of subcutaneous minocycline pigmentation. J Am Acad Dermatol. 2007;57(5):836–9.
Greiner AC, Nicolson GA. Pigment deposition in viscera associated with prolonged chlorpromazine therapy. Can Med Assoc J. 1964;91(12):627–35.
Rosen T, Aponte C. Cutaneous hyperpigmentation due to chronic quinine ingestion. Cutis. 2005;75(2):114–6.
D’Agostino ML, Risser J, Robinson-Bostom L. Imipramine-induced hyperpigmentation: a case report and review of the literature. J Cutan Pathol. 2009;36(7):799–803.
Narurkar V, Smoller BR, Hu CH, Bauer EA. Desipramine-induced blue-gray photosensitive pigmentation. Arch Dermatol. 1993;129(4):474–6.
Desai N, Alexis AF, DeLeo VA. Facial hyperpigmentation caused by diltiazem hydrochloride. Cutis. 2010;86(2):82–4.
Krause W. Drug-induced hperpigemntation: a systematic review. J Dtsch Dermatol Ges. 2013;11(7):644–51.
Hommer A. A review of preserved and preservative-free prostaglandin analogues for the treatment of open-angle glaucoma and ocular hypertension. Drugs Today (Barc). 2010;46(6):409–16.
Gordon G, Sparano BM, Iatropoulos MJ. Hyperpigmentation of the skin associated with minocycline therapy. Arch Dermatol. 1985;121(5):618–23.
Meyer AJ, Nahass GT. Hyperpigmented patches on the dorsa of the feet. Minocycline pigmentation. Arch Dermatol. 1995;131(12):1447.
Jalalat SZ, Cohen PR. Gefitinib-associated vitiligo: report in a man with parotid squamous cell carcinoma and review of drug-induced hypopigmentation. Dermatol Online J. 2013;19(10):20020.
Vachiramon V, Thadanipon K. Postinflammatory hypopigmentation. Clin Exp Dermatol. 2011;36(7):708–14.
Cestari TF, Dantas LP, Boza JC. Acquired hyperpigmentations. An Bras Dermatol. 2014;89(1):11–25.
Wu YH, Lin YC. Generalized Dowling-Degos disease. J Am Acad Dermatol. 2007;57(2):327–34.
Vasudevan B, Verma R, Badwal S, Pragasam V, Moorchung N, Badad A. A case of reticulate acropigmentation of kitamura: dowling degos disease overlap with unusual clinical manifestations. Indian J Dermatol. 2014;59(3):290–2.
Kim YC, Davis MD, Schanbacher CF, Su WP. Dowling-Degos disease (reticulate pigmented anomaly of the flexures): a clinical and histopathologic study of 6 cases. J Am Acad Dermatol. 1999;40(3):462–7.
Gilchrist H, Jackson S, Morse L, Nicotri T, Nesbitt LT. Galli-Galli disease: a case report with review of the literature. J Am Acad Dermatol. 2008;58(2):299–302.
McCormack CJ, Cowen P. Haber’s syndrome. Australas J Dermatol. 1997;38(2):82–4.
Berth-Jones J, Graham-Brown RA. A family with Dowling Degos disease showing features of Kitamura’s reticulate acropigmentation. Br J Dermatol. 1989;120(3):463–6.
Braun-Falco M, Volgger W, Borelli S, Ring J, Disch R. Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease? J Am Acad Dermatol. 2001;45(5):760–3.
Crovato F, Desirello G, Rebora A. Is Dowling-Degos disease the same disease as Kitamura’s reticulate acropigmentation? Br J Dermatol. 1983;109(1):105–10.
Crovato F, Rebora A. Reticulate pigmented anomaly of the flexures associating reticulate acropigmentation: one single entity. J Am Acad Dermatol. 1986;14(2 Pt 2):359–61.
Muller CS, Pfohler C, Tilgen W. Changing a concept—controversy on the confusing spectrum of the reticulate pigmented disorders of the skin. J Cutan Pathol. 2009;36(1):44–8.
Müller CSL, Tremezaygues L, Pföhler C, Vogt T. The spectrum of reticulate pigment disorders of the skin revisited. Eur J Dermatol. 2012;22(5):596–604.
Ostlere L, Holden CA. Dowling-Degos disease associated with Kitamura’s reticulate acropigmentation. Clin Exp Dermatol. 1994;19(6):492–5.
Zimmermann CC, Sforza D, Macedo PM, Azulay-Abulafia L, Alves MF, Carneiro SC. Dowling-Degos disease: classic clinical and histopathological presentation. An Bras Dermatol. 2011;86(5):979–82.
Rongioletti F, Fausti V, Christana K, Montinari M, Parodi A, Fiocca R. Atypical variant of galli-galli disease (grover-like eruption with lentiginous freckling) in a liver transplant patient. Am J Dermatopathol. 2011;33(5):504–7.
Lestringant GG, Masouye I, Frossard PM, Adeghate E, Galadari IH. Co-existence of leukoderma with features of Dowling-Degos disease: reticulate acropigmentation of Kitamura spectrum in five unrelated patients. Dermatology. 1997;195(4):337–43.
Oriba HA, Lo JS, Dijkstra JW, Bergfeld WF. Reticulate nonmelanocytic hyperpigmentation anomaly. A probable variant of Dowling-Degos disease. Int J Dermatol. 1991;30(1):39–42.
Howell JB, Freeman RG. Reticular pigmented anomaly of the flexures. Arch Dermatol. 1978;114(3):400–3.
Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006;78(3):510–9.
Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol. 2007;127(2):298–300.
Herrmann H, Aebi U. Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds. Annu Rev Biochem. 2004;73:749–89.
Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Grosser L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmuller J, Rutten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nurnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet. 2014;94(1):135–43.
Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, Li C, Jiao Q, Lu Z, He J, Ji J, Shen Z, Hao F, Yu H, Yao Z. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013;92(6):895–903.
Acar M, Jafar-Nejad H, Takeuchi H, Rajan A, Ibrani D, Rana NA, Pan H, Haltiwanger RS, Bellen HJ. Rumi is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling. Cell. 2008;132(2):247–58.
Fernandez-Valdivia R, Takeuchi H, Samarghandi A, Lopez M, Leonardi J, Haltiwanger RS, Jafar-Nejad H. Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi. Development. 2011;138(10):1925–34.
Al Hawsawi K, Al Aboud K, Ramesh V, Al Aboud D. Dyschromatosis universalis hereditaria: report of a case and review of the literature. Pediatr Dermatol. 2002;19(6):523–6.
Nuber UA, Tinschert S, Mundlos S, Hauber I. Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation. Am J Med Genet A. 2004;125a(3):261–6.
Sethuraman G, Srinivas CR, D’Souza M, Thappa DM, Smiles L. Dyschromatosis universalis hereditaria. Clin Exp Dermatol. 2002;27(6):477–9.
Kim NS, Im S, Kim SC. Dyschromatosis universalis hereditaria: an electron microscopic examination. J Dermatol. 1997;24(3):161–4.
Gupta A, Sharma Y, Dash KN, Verma S, Natarajan VT, Singh A. Ultrastructural investigations in an autosomal recessively inherited case of dyschromatosis universalis hereditaria. Acta Derm Venereol. 2014;95(6):738–40.
Sorensen RH, Werner KA, Kobayashi TT. Dyschromatosis Universalis Hereditaria with Oral Leukokeratosis—a case of mistaken identity and review of the literature. Pediatr Dermatol. 2015;32(6):e283–7.
Stuhrmann M, Hennies HC, Bukhari IA, Brakensiek K, Nurnberg G, Becker C, Huebener J, Miranda MC, Frye-Boukhriss H, Knothe S, Schmidtke J, El-Harith EH. Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet. 2008;73(6):566–72.
Urabe K, Hori Y. Dyschromatosis. Semin Cutan Med Surg. 1997;16(1):81–5.
Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ. Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. PLoS One. 2013;8(11), e79808.
Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Zhang F. Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. PLoS One. 2014;9(2), e87250.
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013;133(9):2221–8.
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003;73(3):693–9.
Lee HJ, Shin DH, Choi JS, Kim KH. Hereditary sclerosing poikiloderma. J Korean Med Sci. 2012;27(2):225–7.
Greer KE, Weary PE, Nagy R, Robinow M. Hereditary sclerosing poikiloderma. Int J Dermatol. 1978;17(4):316–22.
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Phung, T.L., Wright, T.S., Pourciau, C.Y., Smoller, B.R. (2017). Disorders of Pigmentation. In: Pediatric Dermatopathology. Springer, Cham. https://doi.org/10.1007/978-3-319-44824-4_17
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