The diagnostic value of cafe-au-lait macules

Journal of the American Academy of Dermatology

Volumn 40, Issue 6 I, 1999, Pages 877-890

  Landau, M ^a   Krafchik, B R ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; BLOOM SYNDROME; CAFE AU LAIT SPOT; CANCER RISK; CHILD; COWDEN SYNDROME; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE COURSE; FANCONI ANEMIA; HUMAN; INCONTINENTIA PIGMENTI; MELANOMA; NEUROFIBROMATOSIS; PREVALENCE; PRIORITY JOURNAL; PSEUDARTHROSIS; REVIEW; RING CHROMOSOME; SUN EXPOSURE; SYSTEMIC DISEASE; TUBEROUS SCLEROSIS;

EID: 0033003163     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0190-9622(99)70075-7     Document Type: Article

References (105)

1. JC Alper LB. Holmes The incidence and significance of birthmarks in a cohort of 4641 newborns Pediatr Dermatol 1 1983 58 68
2. VM. Riccardi Neurofibromatosis and Albright’s syndrome Dermatol Clin 5 1987 193 203
3. JK Rivers R MacLennan JW Kelly AE Lewis BJ Tate S Harrison The Eastern Australian childhood nevus study: prevalence of atypical nevi, congenital nevus-like nevi, and other pigmented lesions J Am Acad Dermatol 32 1995 957 963
4. JP Ortonne E Brocard D Floret H Perrot J. Thivolet Valeur diagnostique des taches cafe-au-lait (T.C.L) Ann Dermatol Venereol 107 1983 313 327
5. K Konrad H. Hönigsmann Riesenmelanosomen in naevus-zellnaevi und in normaler menschlicher epidermis Wien Klin Wochenschr 87 1975 173 177
6. K Konrad K Wolff H. Hönigsmann The giant melanosome: a model of deranged melanosome-morphogenesis J Ultrastruct Res 48 1974 102 123
7. H Nakagawa Y Hori S Sato TB Fitzpatrick RL. Martuza The nature and origin of the melanin macroglobule J Invest Dermatol 83 1984 134 139
8. K Jimbow G Szabo TB. Fitzpatrick Ultrastructure of giant pigment (macromelanosomes) in the cutaneous pigmented macules of neurofibromatosis J Invest Dermatol 61 1973 300 309
9. PH Benedict G Szabo TB Fitzpatrick SJ. Sinesi Melanocytic macules in Albright’s syndrome and in neurofibromatosis JAMA 205 1968 618 626
10. T Hirone Y. Eryu Ultrastructure of giant pigment granules in lentigo simplex Acta Derm Venereol (Stockh) 58 1978 223 229
11. K Konrad H Hönigsmann K. Wolff Naevus Spilus: ein pigmentnaevus mit riesenmelanosomen Hautarzt 25 1974 585 593
12. D Elder R Elenitsas C Jaworsky B Johnson Jr. Histopathology of the skin 8th ed 1997 Lippincott-Raven Philadelphia
13. RM MacKie J English TC Aitchison CP Fitzsimons P. Wilson The number and distribution of benign pigmented moles (melanocytic naevi) in healthy British population Br J Dermatol 113 1985 167 174
14. TB Fitzpatrick AZ Eisen K Wolff IM Freedberg KF. Austen Dermatology in general medicine 4th ed 1993 McGraw-Hill New York
15. A Metzker C Morag R. Weitz Segmental pigmentation disorder Acta Derm Venereol (Stockh) 63 1983 167 169
16. FJ Tsai CH. Tsai Birthmarks and congenital skin lesions in Chinese newborns J Formos Med Assoc 92 1993 838 841
17. M Kahana M Feldman Z Abudi S. Yorkman The incidence of birthmarks in Israeli neonates Int J Dermatol 34 1995 704 706
18. D. Whitehouse Diagnostic value of the cafe-au-lait spot in children Arch Dis Child 41 1966 316 319
19. DI McLean RP. Gallagher “Sunburn” freckles, cafe-au-lait macules, and other pigmented lesions of school children: the Vancouver Mole Study J Am Acad Dermatol 32 1995 565 570
20. RG Burwell NJ James DI. Johnston Cafe-au-lait spots in schoolchildren Arch Dis Child 57 1982 631 632
21. C Sigg F Pelloni UW. Schnyder Frequency of congenital nevi, nevi spili and cafe-au-lait spots and their relation to nevus count and skin complexion in 930 children Dermatologica 180 1990 118 123
22. FW Crowe WJ. Schull Diagnostic importance of cafe-au-lait spot in neurofibromatosis Arch Intern Med 91 1953 758 766
23. AW Kopf JL Levine DS Rigel RJ Friedman M. Levenstein Congenital-nevus-like nevi, nevi spili and cafe-au-lait spots in patients with malignant melanoma J Dermatol Surg Oncol 11 1985 275 280
24. P Ducker B Pfeiff H. Pullmann Malignant melanoma in cafe-au-lait spot Z Hautkr 65 1990 751 753
25. VM. Riccardi Neurofibromatosis: clinical heterogeneity Curr Probl Cancer 7 1982 3 34
26. BR. Korf Diagnostic outcome in children with multiple cafe au lait spots Pediatrics 90 1992 924 927
27. SL Arnsmier VM Riccardi AS. Paller Familial multiple cafe au lait spots Arch Dermatol 130 1994 1425 1426
28. J Charrow R Listernick K. Ward Autosomal dominant multiple cafe-au-lait spots and neurofibromatosis-1: evidence of non-linkage Am J Med Genet 45 1993 606 608
29. Neurofibromatosis Conference report Arch Neurol 45 1988 575 578
30. NS Goldberg FS. Collins The hunt for the neurofibromatosis gene Arch Dermatol 127 1991 1705 1707
31. VM. Riccardi Von Recklinghausen neurofibromatosis N Engl J Med 305 1981 1617 1627
32. R. Eldridge Central neurofibromatosis with bilateral acoustic neuroma Adv Neurol 29 1981 57 65
33. E Boltshauser H Stocker M. Machler Neurofibromatosis type 1 in a child with segmental neurofibromatosis (NF-5) Neurofibromatosis 2 1989 244 245
34. T Hamada S. Suzuki The phenomenon of halo-like disappearance of the Mongolian spot on lesions combined with cafe au lait spot or acquired pigmented nevus J Dermatol 8 1981 305 311
35. J. German Bloom syndrome: genetic and clinical observation in the first 21 patients Am J Hum Genet 21 1969 196 227
36. J German D Bloom E. Passarge Bloom’s syndrome: progress report for 1983 Clin Genet 25 1984 166 174
37. NA Ellis J. German Molecular genetics of Bloom’s syndrome Hum Mol Genet 5 1996 1457 1463 (Spec No)
38. MA Sirover TM Vollberg G. Seal DNA repair and molecular mechanism of Bloom’s syndrome Crit Rev Oncol 2 1990 19 33
39. D. Bloom Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs Am J Dis Child 88 1954 754 758
40. D. Bloom The syndrome of congenital telangiectatic erythema with retarded growth J Pediatr 68 1966 103 113
41. JL. Spitz Genodermatoses: a full-color clinical guide to genetic skin disorders 1996 Williams & Wilkins Baltimore
42. J Gretzula O Hevia PJ. Weber Bloom’s syndrome J Am Acad Dermatol 17 1987 479 488
43. H Dicken G Dewald H. Gordon Sister chromatid exchanges in Bloom’s syndrome Arch Dermatol 114 1978 755 760
44. KM Lloyd M. Dennis Cowden disease: a possible new symptom complex with multiple system involvement Ann Intern Med 58 1963 136 142
45. PE Weary RJ Gorlin WC Gentry Jr JE Comer KE. Greer Multiple hamartoma syndrome (Cowden’s disease) Arch Dermatol 106 1972 682 690
46. TM Starink JPW van der Veen F Arwert LP de Waal GG de Lange JJP Gille The Cowden syndrome: a clinical and genetic study in 21 patients Clin Genet 29 1986 222 233
47. LA Schachner RC. Hansen Pediatric dermatology 2nd ed 1995 Churchill-Livingstone New York
48. RD Nuss JL Aeling DE Clemons WN. Weber Multiple hamartoma syndrome (Cowden’s disease) Arch Dermatol 114 1978 743 746
49. G. Fanconi Familial constitutional panmyelocytopathy, Fanconi’s anemia (F.A.): clinical aspects Semin Hematol 4 1967 233 240
50. AD. Auerbach Fanconi anemia Dermatol Clin 13 1995 41 49
51. AD Auerbach A Rogatko TM. Schroeder-Kurth International Fanconi anemia registry: relation of the clinical symptoms to diepoxybutane sensitivity Blood 73 1989 391 396
52. E Johansson KM Niemi M Siimes S. Pyrhonen Fanconi’s anemia Arch Dermatol 118 1982 249 252
53. RS Gorlin MM Cohen LS. Leven Bannayan-Riley-Ruvalcaba syndrome (Bannayan-Zonana syndrome, Ruvalcaba-Myhre, Riley-Smith syndrome) RS Gorlin MM Cohen S Leven Syndromes of the head and neck. 1990 Oxford University Press New York 336 338
54. MC Fargnoli SJ Orlow J Semel-Concepcion JL. Bolognia Clinicopathological findings in the Bannayan-Riley-Ruvalcaba syndrome Arch Dermatol 132 1996 1214 1218
55. L Syllaba K. Henner Contribution a l’independance de l’athetose double idiopathiqueet congenital Rev Neurol (Paris) 1 1926 541 562
56. MJ Aguilar S Kamoshita BH Landing E Boder RP. Sedgwick Pathological observations in ataxia-telangiectasia: a report of 5 cases J Neuropathol Exp Neurol 27 1968 659 676
57. M. Swift Genetic aspects of ataxia-telangiectasia Immunodefic Rev 2 1990 67 81
58. TA Weldman KR. McItire Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia Lancet 2 1972 1112 1115
59. J Korein PA Steinman EH. Senz Ataxia-telangiectasia Arch Neurol 4 1961 272 280
60. LE Cohen DJ Tanner HG Schaefer WR. Levis Common and uncommon cutaneous findings in patients with ataxia-telangiectasia J Am Acad Dermatol 10 1984 431 438
61. WB Reed WL Epstein E Boder R. Segwick Cutaneous manifestations of ataxia-telangiectasia JAMA 195 1966 746 753
62. DE McFarlin E Strober K. Wolff Ataxia-telangiectasia Medicine 51 1972 281 314
63. DW Webb A Clarke A Fryer JP. Osborne Cutaneous features of tuberous sclerosis: a population study Br J Dermatol 135 1996 1 5
64. A. Borberg Clinical and genetic investigation into tuberous sclerosis and Recklinghausen’s neurofibromatosis: contribution to elucidation of interrelationship and eugenics of syndromes Acta Psychiatry Neurol (Scand) 71 suppl 1951 3 239
65. WW. Dickerson Familial occurrence of tuberous sclerosis Arch Neurol 65 1951 683 702
66. NC Nevin WG. Pearle Diagnostic and genetic aspects of tuberous sclerosis J Med Genet 5 1968 273 280
67. SD Bell DM. Macdonald The prevalence of cafe-au-lait patches in tuberous sclerosis Clin Exp Dermatol 10 1985 562 565
68. I Pascual-Castroviejo L Lopez-Rodriguez M de la Cruz Medina C Salamanca-Maesso C. Roche Herrero Hypomelanosis of Ito: neurological complications in 34 cases Can J Neurol Sci 15 1988 124 129
69. S Vollenweider Roten I Masouye CD Delozier-Blanchet J-H. Saurat Cutaneous findings in ring chromosome 7 syndrome Dermatology 186 1993 84 87
70. K Fagan GK Suthers G. Hardacre Ring chromosome 11 and cafe-au-lait spots Am J Med Genet 30 1988 911 916
71. MG Butler AB Fogo DA Fuchs FC Collins VG Dev JA. Phillips Two patients with ring chromosome 15 syndrome Am J Med Genet 29 1988 149 154
72. JP Park JM Graham Jr PA Andrews DH. Wurster-Hill Ring chromosome 12 Am J Med Genet 29 1988 437 440
73. DJ. McCune Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism Am J Dis Child 52 1936 743 744
74. F Albright AM Butler AO Hampton P. Smith Syndrome characterized by osteitis fibrosa disseminata, areas of hyperpigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases N Engl J Med 216 1937 727 746
75. A Shenker LS Weinstein DE Sweet AM. Spiegel An activating Gs mutation is present in fibrous dysplasia of bone in McCune-Albright syndrome J Clin Endocrin Metab 79 1994 750 755
76. A Shenker LS Weinstein A Moran OH Pescovitz NJ Charest CM Boney Severe endocrine non-endocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stumulatory G protein Gs J Pediatr 123 1993 509 518
77. R. Happle The McCune-Albright syndrome: a lethal gene surviving by mosaicism Clin Genet 29 1986 321 324
78. JG Roth NB. Esterly McCune-Albright syndrome with multiple bilateral cafe au lait spots Pediatr Dermatol 8 1991 35 39
79. E Rieger R Kofler M Borkenstein J Schwingshandl HP Soyer H. Kerl Melanotic macules following Blaschko’s lines in McCune-Albright syndrome Br J Dermatol 130 1994 215 220
80. GH. Watson Pulmonary stenosis, cafe-au-lait spots, and dull intelligence Arch Dis Child 42 1967 303 307
81. JE Allanson M Upadhyaya GH Watson M Partington A MacKenzie D Lahey Watson syndrome: Is it a subtype of type 1 neurofibromatosis? J Med Genet 28 1991 752 756
82. RJ Gorlin RC. Anderson Multiple lentigines syndrome Am J Dis Chid 117 1969 652 662
83. H Silver W Kiyasu J George WC. Deamer Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins Pediatrics 12 1953 368 376
84. A. Russell A syndrome of “intrauterine” dwarfism recognizable at birth with cranio-facial dysostosis, dysproportionately short arms and other anomalies (five examples) Proc R Soc Med 47 1954 1040 1044
85. LJ Marks PS. Bergeson The Silver-Russell syndrome Am J Dis Child 131 1977 447 451
86. G Micali MR Nasca D Innocenzi D. Lembo Agminated lentiginosis: case report and review of the literature Pediatr Dermatol 11 1994 241 245
87. GS Hughes Jr HA Park BE. Jones Partial unilateral lentiginosis in a black patient with sickle cell anemia J Am Acad Dermatol 8 1983 563 565
88. GW Thompson AK. Diehl Partial unilateral lentiginosis Arch Dermatol 116 1980 356
89. G Gerhards M. Hamman Die unilaterale Lentiginose: eine segmentale Neurofibromatose ohne Neurofibrome Hautarzt 43 1992 491 495
90. A Shuper M Mukamel M Mimouni R. Steinherz Noonan’s syndrome and neurofibromatosis Arch Dis Child 62 1987 196 198
91. BE Ahlbom N Dahl P Zetterqvist G. Anneren Noonan syndrome with cafe-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus Clin Genet 48 1995 85 89
92. JJ Nora AH Nora AK Sinha RD Spangler HA. Lubs The Ullrich-Noonan syndrome Am J Dis Child 127 1974 48 55
93. E Torok J. Daroczy Juvenile xanthogranuloma: an analysis of 45 cases by clinical follow-up, light- and electron microscopy Acta Derm Venereol (Stockh) 65 1985 167 169
94. W Westerhof FA Beemer RH Cormane JW Delleman WR Faber JGY de Jong Hereditary congenital hypopigmented and hyperpigmented macules Arch Dermatol 114 1978 931 936
95. F Halal MH Gervais J Baillargeon R. Lesage Gastrocutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, and myopia Am J Med Genet 11 1982 161 176
96. CM Weemaes TW Hustinx JM Scheres PJ van Munster JA Bakkeren RD. Taalman A new chromosomal instability disorder: the Nijmegen breakage syndrome Acta Pediatr Scand 70 1981 557 564
97. D Moretti-Ferreira CP Koiffmann DH Souza AJ Diament A. Wajntal Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): Genetic heterogeneity or autosomal dominant locus with at least two different allelic forms? Am J Med Genet 34 1989 548 551
98. S Saijo Y Saijo T Hirosawa T Saito K Sano S Togashi An autopsy case of lung cancer in a young adult dwarf Jpn J Cancer Clin 32 1986 1994 1998
99. KC Shah DD. Umrigar Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia: a case report J Dermatol 17 1990 380 384
100. F Hala N Setton NS. Wang A distinct form of hidrotic ectodermal dysplasia Am J Med Genet 38 1991 520 556
101. M Ruggieri V Pavone P Smilari R Rizzo G. Sorge Primary osteoma cutis, multiple cafe-au-lait spots and woolly hair anomaly Pediatr Radiol 25 1995 34 36
102. E Spellacy DA Gibbs RW. Watts A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease) Q J Med 50 1981 377 415
103. M Campanacci M Laus S. Boriani Multiple non-ossifying fibromata with extraskeletal anomalies: A new syndrome? J Bone Joint Surg 65 1983 627 632
104. JV Verner Jr JH Johnson FL. Merritt Cafe au lait spots, temporal dysrhythmia, and emotional instability Int J Neuropsychiatr 2 1966 179 187
105. RB Everson JF Fraumeni Jr. Familial glioblastoma with hepatic focal nodular hyperplasia Cancer 38 1976 310 313