Neurofibromatosis

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  • 2  Riccardi VM. Neurofibromatosis: Phenotype, Natural History and Pathogenesis, 2nd edn. Baltimore: Johns Hopkins University Press, 1992.
  • 3  Viskochil D, Carey JC. Nosological considerations of the neurofibromatoses. J Dermatol 1992;19:873–80. Cross Ref link Pubmed link
  • 4  Viskochil D, Carey JC. Alternate and related forms of the neurofibromatoses. In: Huson SM, Hughes RAC, eds. The Neurofibromatoses: a Clinical and Pathogenetic Overview. London: Chapman and Hall, 1994:445–574.
  • 5  Von Deimling A, Krone W, Menon AG. Neurofibromatosis type 1: pathology, clinical features and molecular genetics. Brain Pathol 1995;5:153–62. Cross Ref link Pubmed link
  • 6  Huson SM, Rosser E. The phakomatoses. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principles and Practice of Medical Genetics. New York: Churchill Livingstone, 1997:2269–302.

Neurofibromatosis type 1

  • 7  Crowe FW, Schull WJ, Neel JV. A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis. Springfield, IL: Thomas, 1956.
  • 8  Huson SM, Harper PS, Compston DAS. Von Recklinghausen neurofibromatosis. A clinical and population study in South East Wales. Brain 1988;111:1355–81. Cross Ref link Pubmed link
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  • 10  Von Recklinghausen FD. Uber die Multiplen Fibrome der Haut und Ihre Beziehung Zu Den Multiplen Neuromen. Berlin: A. Hirschwald, 1882.
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  • 14  Seizinger BR, Rouleau GA, Ozelius LG, et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor gene. Cell 1987;49:589–94. Cross Ref link Pubmed link
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  • 22  Malhotra R, Ratner N. Localization of neurofibromin to keratinocytes and melanocytes in developing rat and human skin. J Invest Dermatol 1994;102:812–18. Cross Ref link Pubmed link
  • 23  Riccardi VM. Mast cell stabilization to decrease neurofibroma growth. Preliminary experience with ketotifen. Arch Dermatol 1988;123:1011–16. Cross Ref link
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  • 26  Benedict PH, Szabo G, Fitzpatrick TB, et al. Melanotic macules in Albright's syndrome and in neurofibromatosis. JAMA 1968;205:618–26. Cross Ref link Pubmed link
  • 27  Johnson BL, Charneco DR. Café au lait spot in neurofibromatosis and in normal individuals. Arch Dermatol 1970;102:442–6. Cross Ref link Pubmed link
  • 28  Jimbow K, Szabo G, Fitzpatrick TB. Ultrastructure of giant pigment granules (macromelanosomes) in the cutaneous pigmented macules of neurofibromatosis. J Invest Dermatol 1973;61:300–9. Cross Ref link Pubmed link
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  • 30  Fitzpatrick TB. Melanin synthesis pathways in the pathogenesis of neurofibromatosis. Adv Neurol 1981;29:209–11. Pubmed link
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  • 32  Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617–27. Cross Ref link Pubmed link
  • 33  Riccardi VM. Neurofibromatosis. In: Gomez MR, ed. Neurocutaneous Diseases. Boston: Butterworth, 1987:11–29. Cross Ref link
  • 34  National Institutes of Health Consensus Development Conference Statement. Neurofibromatosis. Arch Neurol 1988;45:575–8. Cross Ref link Pubmed link
  • 35  Huson SM, Compston DAS, Harper PS. A genetic study of Von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet 1989;26:712–21. Cross Ref link Pubmed link
  • 36  Westerhof W, Konrad K. Blue–red macules and pseudoatrophic macules. Arch Dermatol 1982;118:577–81. Cross Ref link Pubmed link
  • 37  Crowe FW. Axillary freckling as a diagnostic aid in neurofibromatosis. Ann Intern Med 1964;61:1142–3. Cross Ref link Pubmed link
  • 38  Riccardi VM. Pathophysiology of neurofibromatosis. J Am Acad Dermatol 1980;3:157–66. Cross Ref link Pubmed link
  • 39  Canale DJ, Bebin J. In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology, Vol. 14. Amsterdam: Elsevier, 1972:132–62.
  • 40  Wu X, Estwick SA, Chen S, et al. Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells. Hum Mol Genet 2006;15:2837–45. Cross Ref link Pubmed link
  • 41  Brunetti‐Pierri N, Doty SB, Hicks J, et al. Generalized metabolic bone disease in neurofibrosis type 1. Mol Genet Metab 2008;94:105–11. Cross Ref link Pubmed link
  • 42  Weichert KA, Dine MS, Benton C, et al. Macrocranium and neurofibromatosis. Radiology 1973;107:163–6. Cross Ref link Pubmed link
  • 43  Ferner RE, Hughes RA, Weinman J. Intellectual impairment in neurofibromatosis 1. J Neurol Sci 1996;138:125–33. Cross Ref link Pubmed link
  • 44  Westerhof W, Delleman JW, Wolters E, et al. Neurofibromatosis and hypertelorism. Arch Dermatol 1984;120:1579–81. Cross Ref link Pubmed link
  • 45  Saxena KM. Endocrine manifestations of neurofibromatosis in children. Am J Dis Child 1970;120:265–71. Pubmed link
  • 46  Hartemann P, Schmitt J, Arnould G. Acromegalie et neurofibromatose de Recklinghausen. A propos de dix cas. Ann Endocrinol 1964;25:601–18.
  • 47  Mena E, Bookstein JJ, Holt JF, et al. Neurofibromatosis and renovascular hypertension in children. Am J Roentgenol 1973;118:39–45. Cross Ref link
  • 48  Nakhoul F, Green J, Angel A, et al. Renovascular hypertension associated with neurofibromatosis: two cases and review of the literature. Clin Nephrol 2001;55:322–6. Pubmed link
  • 49  Gonzalez‐Argulo A. Neurofibromatosis involving the lower urinary tract. J Urol 1963;89:804–11. Pubmed link
  • 50  Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force. Genet Med 2002;4:105–11. Cross Ref link Pubmed link
  • 51  Tedesco MA, Di Salvo G, Natale F, et al. The heart in neurofibromatosis type 1: an echocardiographic study. Am Heart J 2002;143:883–8. Cross Ref link Pubmed link
  • 52  Aoki Y, Kodama M, Mezaki T, et al. Von Recklinghausen disease complicated by pulmonary hypertension. Chest 2001;119:1606–8. Cross Ref link Pubmed link
  • 53  Kramer W. Lesions of the central nervous system in multiple neurofibromatosis. Psychiatr Neurol Neurochir 1971;74:349–68. Pubmed link
  • 54  Levenson D. Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1: girls more likely to require treatment for visual decline caused by NF1‐related brain tumors. Am J Med Genet A 2014;164A(5):viii–ix.
  • 55  Fisher MJ, Loguidice M, Gutmann DH, et al. Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma. Ann Neurol 2014;75(5):799–800. Cross Ref link Pubmed link
  • 56  D'Agostino AN, Soule EH, Miller RH. Sarcomas of the peripheral nerves and somatic soft tissues associated with multiple neurofibromatosis (Von Recklinghausen's disease). Cancer 1963;16:1015–27. Cross Ref link Pubmed link
  • 57  Leroy K, Dumas V, Martin‐Garcia N, et al. Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol 2001;137:908–13. Pubmed link
  • 58  Zou C, Smith KD, Liu J, et al. Clinical, pathological, and molecular variables predictive of malignant peripheral nerve sheath tumor outcome. Ann Surg 2009;249:1014–22. Cross Ref link Pubmed link
  • 59  Zhang M, Wang Y, Jones S, et al. Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors. Nat Genet 2014;46(11):1170–2. Cross Ref link Pubmed link
  • 60  Hope DG, Mulvihill JJ. Malignancy in neurofibromatosis. Adv Neurol 1981;29:33–56. Pubmed link
  • 61  Hasanreisoglu B, Or M, Akbatur H. Neurofibromatosis associated with retinoblastoma: case report. Br J Ophthalmol 1988;72:139–41. Cross Ref link Pubmed link
  • 62  Duve S, Rakoski J. Cutaneous melanoma in a patient with neurofibromatosis: a case report and review of the literature. Br J Dermatol 1994;131:290–4. Cross Ref link Pubmed link
  • 63  Brasfield RD, Das Gupta TK. Von Recklinghausen's disease: a clinico‐pathological study. Ann Surg 1972;175:86–104. Cross Ref link Pubmed link
  • 64  Sabbagh A, Pasmant E, Laurendeau I, et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum Mol Genet 2009;18:2768–78. Cross Ref link Pubmed link
  • 65  Pemov A, Sung H, Hyland PL, et al.Genetic modifiers of neurofibromatosis type 1‐associated café‐au‐lait macule count identified using multi‐platform analysis. PLOS Genet 2014;10(10):e1004575. Cross Ref link Pubmed link
  • 66  Swapp GH, Main RA. Neurofibromatosis in pregnancy. Br J Dermatol 1973;80:431–5. Cross Ref link
  • 67  Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81–8. Cross Ref link Pubmed link
  • 68  Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014;13(8):834–43. Cross Ref link Pubmed link
  • 69  Sorensen SA, Mulvihill JT, Nielsen A. Long‐term follow‐up of von Recklinghausen neurofibromatosis: survival and malignant neoplasms. N Engl J Med 1986;314:1010–15. Cross Ref link Pubmed link
  • 70  Zöller M, Rembeck B, Akesson HO, et al. Life expectancy, mortality and prognostic factors in neurofibromatosis type 1: a 12 year follow‐up of an epidemiological study in Göteborg, Sweden. Acta Derm Venereol (Stockh) 1995;75:136–40.
  • 71  Imaizumi Y. Mortality of neurofibromatosis in Japan, 1968–92. J Dermatol 1995;22:191–5. Cross Ref link Pubmed link
  • 72  Korf BR. Diagnosis and management of neurofibromatosis type 1. Curr Neurol Neurosci Rep 2001;1:162–7. Cross Ref link Pubmed link
  • 73  Griffith BH, McKinney P, Monroe CW, et al. Von Recklinghausen's disease in children. Plast Reconstr Surg 1972;49:647–53. Cross Ref link Pubmed link
  • 74  Ostertag JU, Theunissen CC, Neumann HA. Hypertrophic scars after therapy with CO2 laser for treatment of multiple cutaneous neurofibromas. Dermatol Surg 2002;28:296–8. Pubmed link
  • 75  Wolkenstein P, Zeller J, Revuz J, et al. Quality‐of‐life impairment in neurofibromatosis type 1: a cross‐sectional study of 128 cases. Arch Dermatol 2001;137:1421–5. Cross Ref link Pubmed link
  • 76  Sestini R, Vivarelli R, Balestri P, et al. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene. Hum Genet 2000;107:366–71. Cross Ref link Pubmed link
  • 77  Consoli C, Moss C, Green S, et al. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. J Invest Dermatol 2005;125:463–6. Cross Ref link Pubmed link
  • 78  Widemann BC, Acosta MT, Ammoun S, et al. CTF meeting 2012. Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies. Am J Med Genet A 2014;164A(3):563–78. Cross Ref link Pubmed link
  • 79  Weiss B, Widemann BC, Wolters P, et al. Sirolimus for progressive neurofibromatosis type 1‐associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study. Neuro Oncol 2015;17(4):596–603. Cross Ref link Pubmed link
  • 80  Plotkin SR, Albers AC, Babovic‐Vuksanovic D, et al. Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A 2014;164A(12):2969‐78. Cross Ref link Pubmed link

Association of neurofibromatosis type 1, juvenile xanthogranuloma and juvenile chronic myeloid leukaemia

  • 81  Jensen NE, Sabharwal S, Walker AE. Naevoxanthoendothelioma and neurofibromatosis. Br J Dermatol 1971;85:326–30. Cross Ref link Pubmed link
  • 82  Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia. World statistical analysis. Arch Dermatol 1995;131:904–8. Cross Ref link Pubmed link
  • 83  Shin HT, Harris MB, Orlow SJ. Juvenile myelomonocytic leukemia presenting with features of hemophagocytic lymphohistiocytosis in association with neurofibromatosis and juvenile xanthogranulomas. J Pediatr Hematol Oncol 2004;26:591–5. Cross Ref link Pubmed link

Segmental neurofibromatosis

  • 84  Miller RM, Sparkes RS. Segmental neurofibromatosis. Arch Dermatol 1977;113:837–8. Cross Ref link Pubmed link
  • 85  Dawson TAJ. Regional eruptive neurofibromatosis. Br J Dermatol 1984;111(Suppl. 26):65. Cross Ref link
  • 86  Oranje AP, Vuzevski VD, Kalis TJ, et al. Segmental neurofibromatosis. Br J Dermatol 1985;112:107–12. Cross Ref link Pubmed link
  • 87  Roth MRR, Martines MAJR, James WD. Segmental neurofibromatosis. Arch Dermatol 1987;123:917–20. Cross Ref link Pubmed link
  • 88  Viskochil D, Carey JC. Alternate and related forms of the neurofibromatoses. In: Huson SM, Hughes RAC, eds. The Neurofibromatoses: a Clinical and Pathogenetic Overview. London: Chapman and Hall, 1994:445–574.
  • 89  Moss C, Green SH. What is segmental neurofibromatosis? Br J Dermatol 1994;130:106–10. Cross Ref link Pubmed link
  • 90  Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001;56:1433–43. Cross Ref link Pubmed link
  • 91  Rubenstein AE, Bader JE, Aron AA, et al. Familial transmission of segmental neurofibromatosis. Neurology 1983;33(Suppl. 2):76.
  • 92  Messiaen L, Vogt J, Bengesser K, et al. Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1). Hum Mutat 2011;32(2):213–19. Cross Ref link Pubmed link

Café‐au‐lait spots and pulmonary stenosis

  • 93  Ortonne JP, Brocard E, Floret D, et al. Valeur diagnostique des taches café‐au‐lait. Ann Dermatol Vénéréol 1980;107:313–27.
  • 94  Watson GH. Pulmonary stenosis, café au lait spots and dull intelligence. Arch Dis Child 1967;42:303–7. Cross Ref link Pubmed link
  • 95  Allanson JE, Upadhyaya M, Watson G, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;28:752–6. Cross Ref link Pubmed link
  • 96  Tassabehji M, Strachan T, Sharland M, et al. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet 1993;53:90–5. Pubmed link

Neurofibromatosis–Noonan syndrome

  • 97  Colley A, Donnai D, Evans DGR. Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis. Clin Genet 1996;49:59–64. Cross Ref link Pubmed link
  • 98  De Luca A, Bottillo I, Sarkozy A, et al. NF1 gene mutations represent the major molecular event underlying neurofibromatosis‐Noonan syndrome. Am J Hum Genet 2005;77:1092–101. Cross Ref link Pubmed link

Legius syndrome

  • 99  Brems H, Chmara M, Sahbatou M, et al. Germline loss‐of‐function mutations in SPRED1 cause a neurofibromatosis 1‐like phenotype. Nat Genet 2007;39:1120–6. Cross Ref link Pubmed link
  • 100  Niemeyer CM. RAS diseases in children. Haematologica 2014;99(11):1653–62. doi: 10.3324/haematol.2014.114595. Cross Ref link Pubmed link

RASopathies

  • 101  Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Devel 2009;19:230–6. Cross Ref link
  • 102  Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013;14:355–69. Cross Ref link Pubmed link
  • 103  Rauen KA, Huson SM, Burkitt‐Wright E, et al. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. Am J Med Genet A 2015;167A:1–10. Cross Ref link Pubmed link

Tuberous sclerosis complex

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  • 109  Sampson JR, Scahill SJ, Stephenson JBP, et al. Genetic aspects of tuberous sclerosis in the west of Scotland. J Med Genet 1989;26:28–31. Cross Ref link Pubmed link
  • 110  Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann NY Acad Sci 1991;615:125–7. Cross Ref link Pubmed link
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  • 112  Fryer AE, Connor JM, Povey S, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;i:659–61. Cross Ref link
  • 113  Kwiatowski DJ, Short MP. Tuberous sclerosis. Arch Dermatol 1994;130:348–54. Cross Ref link Pubmed link
  • 114  Sampson JR, Harris PC. The molecular genetics of tuberous sclerosis. Hum Mol Genet 1994;3:1477–80. Pubmed link
  • 115  Wienecke R, Konig A, Declue JE. Identification of tuberin, the tuberous sclerosis‐2 product. Tuberin possesses specific Rap1 GAP activity. J Biol Chem 1995;270:16409–14. Cross Ref link Pubmed link
  • 116  Green AJ, Smith M, Yates JRW. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994;6:193–6. Cross Ref link Pubmed link
  • 117  Green AJ, Johnson PH, Yates JRW. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994;3:1833–4. Cross Ref link Pubmed link
  • 118  Henske EP, Neumann HPH, Scheithauer BW, et al. Loss of heterozygosity in the tuberous sclerosis (TSC2) region on chromosome band 16p13 occurs in sporadic as well as TSC associated renal angiomyolipomas. Genes Chromosomes Cancer 1995;13:295–8. Cross Ref link Pubmed link
  • 119  Povey S, Burley MW, Attwood J, et al. Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet 1994;58:107–27. Cross Ref link Pubmed link
  • 120  Brook‐Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKDI genes associated with severe infantile polycystic kidney disease, a contiguous gene syndrome. Nat Genet 1994;8:328–32. Cross Ref link Pubmed link
  • 121  Flinter FA, Neville BGR. Examining the parents of children with tuberous sclerosis. Lancet 1986;ii:1167. Cross Ref link
  • 122  Cassidy SB, Pagon RA, Pepin M, et al. Family studies in tuberous sclerosis. Evaluation of apparently unaffected parents. JAMA 1983;249:1302–4. Cross Ref link Pubmed link
  • 123  Bender BL, Yunis EJ. The pathology of tuberous sclerosis. Pathol Annu 1982;17:339–82. Pubmed link
  • 124  Oikarinen A, Palatsi R, Linna SL, et al. Types I and II collagens and the activities of prolyl hydroxylase and galactosylhydroxylysylglucosyl‐transferase in skin lesions of tuberous sclerosis. Br J Dermatol 1982;107:659–64. Cross Ref link Pubmed link
  • 125  Kint A, Baran R. Histopathologic study of Koenen tumors. Are they different from acquired digital fibrokeratoma? J Am Acad Dermatol 1988;18:369–72. Cross Ref link Pubmed link
  • 126  Fitzpatrick TB, Szabo G, Hori Y, et al. White leaf‐shaped macules. Earliest visible sign of tuberous sclerosis. Arch Dermatol 1968;98:1–6. Cross Ref link Pubmed link
  • 127  Jimbow K, Fitzpatrick TB, Szabo G, et al. Congenital circumscribed hypomelanosis: a characterization based on electron microscopic study of tuberous sclerosis, nevus depigmentosus and piebaldism. J Invest Dermatol 1975;64:50–62. Cross Ref link Pubmed link
  • 128  Tilgen W. Ultrastructure of white leaf‐shaped macules in tuberous sclerosis. Arch Dermatol Forsch 1973;248:13–27. Cross Ref link Pubmed link
  • 129  Mitnick JS, Bosniak MA, Hilton S, et al. Cystic renal disease in tuberous sclerosis. Radiology 1983;147:85–7. Cross Ref link Pubmed link
  • 130  Dwyer JM. Pulmonary tuberous sclerosis. Report of three patients and a review of the literature. Q J Med 1971;40:115–25. Pubmed link
  • 131  Milledge RD, Gerald BE, Carter WJ. Pulmonary manifestations of tuberous sclerosis. Am J Roentgenol 1966;98:734–8. Cross Ref link
  • 132  Rudolph RI. Pulmonary manifestations of tuberous sclerosis. Cutis 1981;27:82–4. Pubmed link
  • 133  Scudiero DA, Moshell AN, Scarpinato RG, et al. Lymphoblastoid lines and skin fibroblasts from patients with tuberous sclerosis are abnormally sensitive to ionizing radiation and to a radiomimetic chemical. J Invest Dermatol 1981;78:234–8. Cross Ref link
  • 134  Fryer AE, Osbourne JP. Tuberous sclerosis: a clinical appraisal. Pediatr Rev Commun 1987;1:239–55.
  • 135  Gomez MR. Tuberous sclerosis. In: Gomez MR, ed. Neurocutaneous Diseases. Boston: Butterworth, 1987:30–52. Cross Ref link
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  • 137  Lagos JC, Gomez MR. Tuberous sclerosis: reappraisal of a clinical entity. Mayo Clin Proc 1967;42:26–49. Pubmed link
  • 138  Osborne JP. Diagnosis of tuberous sclerosis. Arch Dis Child 1988;63:1423–5. Cross Ref link Pubmed link
  • 139  Reed WB, Nickel WR, Campion G. Internal manifestations of tuberous sclerosis. Arch Dermatol 1963;87:715–28. Cross Ref link Pubmed link
  • 140  Roach ES, Smith M, Huttenlocher P, et al. Diagnostic criteria: tuberous sclerosis complex. J Clin Neurol 1992;7:221–4.
  • 141  Huson SM, Rosser E. The phakomatoses. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Principles and Practice of Medical Genetics. New York: Churchill Livingstone, 1997:2269–302.
  • 142  Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998;13:624–8. Cross Ref link Pubmed link
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  • 145  Gold AP, Freeman JM. Depigmented nevi: the earliest sign of tuberous sclerosis. Pediatrics 1965;35:1003–5. Pubmed link
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Gardner syndrome

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Cowden syndrome

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