Clinics in Dermatology
Volume 24, Issue 4 , Pages 299-316 , July 2006

Rare syndromes

  • Serge A. Jabbour, MD

      Affiliations

    • Division of Endocrinology, Diabetes and Metabolic Diseases, Thomas Jefferson University, Philadelphia, PA 19107, USA
    • Corresponding Author InformationCorresponding author. Tel.: +1 215 9555564; fax: +1 215 9283160.
    • ,
  • Batya B. Davidovici, MD

      Affiliations

    • Dermatology Unit, Kaplan Medical Center, Rechovot, Israel
    • ,
  • Ronni Wolf, MD

      Affiliations

    • Dermatology Unit, Kaplan Medical Center, Rechovot, Israel

References 

  1. Becker S, Kahn D, Rothman S. Cutaneous manifestations of internal malignant tumors. Arch Dermatol. 1942;45:1069–1080
  2. McGavran MH, Unger RH, Recant L, et al. A glucagon-secreting alpha-cell carcinoma of the pancreas. N Engl J Med. 1966;274:1408–1413
  3. Mallinson CN, Bloom SR, Warin AP, Salmon PR, Cox B. A glucagonoma syndrome. Lancet. 1974;2:1–5
  4. Wermers RA, Fatourechi V, Wynne AG, et al. The glucagonoma syndrome. Medicine. 1996;75:53–63
  5. Boden G. Glucagonomas and insulinomas. Gastroenterol Clin North Am. 1989;18:831–845
  6. Stacpoole PW. The glucagonoma syndrome: clinical features, diagnosis, and treatment. Endocr Rev. 1981;2:347–361
  7. Klein S, Jahoor F, Baba H, et al. In vivo assessment of the metabolic alterations in glucagonoma syndrome. Metabolism. 1992;41:1171–1175
  8. Norton JA, Kahn CF, Schiebinger R, et al. Amino acid deficiency and the skin rash associated with glucagonoma. Ann Intern Med. 1979;91:213–215
  9. Mullans EA, Cohen PR. Iatrogenic necrolytic migratory erythema: a case report and review of nonglucagonoma-associated necrolytic migratory erythema. J Am Acad Dermatol. 1998;38:866–873
  10. Wermers RA, Fatourechi V, Kvols LK. Clinical spectrum of hyperglucagonemia associated with malignant neuroendocrine tumors. Mayo Clin Proc. 1996;71:1030–1038
  11. Rosch T, Lightdale CJ, Botet JF, et al. Localization of pancreatic endocrine tumors by endoscopic ultrasonography. N Engl J Med. 1992;326:1721–1726
  12. Weinel RJ, Neuhaus C, Stapp J, et al. Preoperative localization of gastronintestinal endocrine tumors using somatostatin-receptor scintigraphy. Ann Surg. 1993;218:640–645
  13. Smith AP, Doolas A, Staren ED. Rapid resolution of necrolytic migratory erythema after glucagonoma resection. J Surg Oncol. 1996;61:306–309
  14. Fraker DL, Norton JA. The role of surgery in the management of islet cell tumors. Gastroenterol Clin North Am. 1989;18:805–830
  15. Bewley AP, Ross JS, Bunker CB, Staughton RC. Successful treatment of a patient with octreotide-resistant necrolytic migratory erythema. Br J Dermatol. 1996;134:1101–1104
  16. Easton DF, Ponder MA, Huson SM, et al. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes. Am J Hum Genet. 1993;53:305–313
  17. North K. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J Child Neurol. 1993;8:395–402
  18. Harada H, Kumon Y, Hatta N, et al. Neurofibromatosis type 2 with multiple primary brain tumors in monozugotic twins. Surg Neurol. 1999;51:528–535
  19. Calzavara PG, Carlino A, Anzola GP, Pasolini MP. Segmental neurofibromatosis. Case report and review of the literature. Neurofibromatosis. 1988;1:318–322
  20. DEBella K, Szudek J, Friedman JM. Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in children. Pediatrics. 2000;105:608–614
  21. Gutmann DH, Aylsworth A, Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997;278:51–57
  22. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45:575–578
  23. Gutmann DH. Recent insights into neurofibromatosis type 1: clear genetic progress. Arch Neurol. 1998;55:778–780
  24. Lewis RA, Riccardi VM. von Recjlinghausen neurofibromatosis. Incidence of iris hamartomata. Ophthalmology. 1981;88:348–354
  25. Gutmann DH, Collins FS. Neurofibromatosis 1. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. New York: McGraw Hill; 2001;p. 877
  26. Stevenson DA, Birch PH, Friedman JM, et al. Descriptive analysis of tibial pseudoarthrosis in patients with neurofibromatosis 1. Am J Med Genet. 1999;84:413–419
  27. Lewis RA, Gerson PL, Axelson KA, et al. von Recklinghausen neurofibromatosis: incidence of optic gliomata. Ophthalmology. 1984;91:929–935
  28. Guillamo JS, Creange A, Kalifa C, et al. Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF 1): a retrospective study of 104 patients. Brain. 2003;126:152–160
  29. Creange A, Zeller J, Rostaing-Rigattieri S, et al. Neurological complications of neurofibromatosis type 1 in adulthood. Brain. 1999;122(Pt 3):473–481
  30. Friedman JM, Birch P. An association between optic glioma and other tumours of the central nervous system in neurofibromatosis type 1. Neuropediatrics. 1997;28:131–132
  31. Hope DG, Mulvihill JJ. Malignancy in neurofibromatosis. Adv Neurol. 1981;29:33–56
  32. Bader JL, Miller RW. Neurofibromatosis and childhood leukemia. J Pediatr. 1978;92:925–929
  33. Zvulunov A, Barak Y, Metzker A. Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia.World statistical analysis. Arch Dermatol. 1995;131:904–908
  34. North KN, Riccardi V, Samango-Sprouse C, et al. Cognitive function and academic performance in neurofibromatosis 1: consensus statement from the NF1 Cognitive Disorders Task Force. Neurology. 1997;48:1121–1127
  35. Kulkantrakorn K, Geller TJ. Seizures in neurofibromatosis 1. Pediatr Neurol. 1998;19:347–350
  36. Steen RG, Taylor JS, Langston JW, et al. Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities. AJNR AJNR Am J Neuroradiol. 2001;22:810–817
  37. Sperfeld AD, Hein C, Schroder JM, et al. Occurrence and characterization of peripheral nerve involvement in neurofibromatosis type 2. Brain. 2002;125:996–1004
  38. Fossali E, Signorini E, Intermite RC, et al. Renovascular disease and hypertension in children with neurofibromatosis. Pediatr Nephrol. 2000;14:806–810
  39. Walther MM, Herring J, Enquist E, et al. von Recklinghausen disease and pheochromocytomas. J Urol. 1999;162:1582–1586
  40. Korf BR. Diagnostic outcome in children with multiple cafe-au-lait spots. Pediatrics. 1992;90:924–927
  41. Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. 1997;70:138–143
  42. Lott IT, Richardson EP. Neuropathological findings and the biology of neurofibromatosis. Adv Neurol. 1981;29:23–32
  43. Cordoliani F, Rybojad M, Verola O, Espie M. Dermatoses of the nipple and the areola. Arch Anat Cytol Pathol. 1995;43:82–87
  44. Dugoff L, Sujansky E. Neurofibromatosis type 1 and pregnancy. Am J Med Genet. 1996;66:7–10
  45. Health supervision for children with neurofibromatosis. American Academy of Pediatrics Committee on Genetics. Pediatrics. 1995;96:368–372
  46. Plon SE, Riccardi VM. The phakomatoses and other neurocutaneous syndromes.. In:  Oski FA, et al. editor. Oski's pediatrics: principles and practice. 3rd ed.. Philadelphia: JB Lippincott; 1999;p. 2019
  47. Lama G, Graziano L, Calabrese E, et al. Blood pressure and cardiovascular involvement in children with neurofibromatosis type 1. Pediatr Nephrol. 2004;19:413–418
  48. Ringel MD, Schwindinger WF, Levine MA. Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine. 1996;75:171–184
  49. Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325:1688–1695
  50. Danon M, Crawford JD. The McCune-Albright syndrome. Ergeb Inn Med Kinderheilkd. 1987;55:81–115
  51. Nager GT, Kennedy DW, Kopstein E. Fibrous dysplasia: a review of the disease and its manifestations in the temporal bone. Ann Otol Rhinol Laryngol Suppl. 1982;92:1–52
  52. Pasquino AM, Tebaldi L, Cives C, et al. Precocious puberty in the McCune-Albright syndrome: progression from gonadotrophin-independent to gonadotrophin-dependent puberty in a girl. Acta Paediatr Scand. 1987;76:841–843
  53. Lair-Milan F, Blevec GL, Carel JC, et al. Thyroid sonographic abnormalities in McCune-Albright syndrome. Pediatr Radiol. 1996;26:424–426
  54. Danon MS, Robboy SH, Kin S, et al. Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia. J Pediatr. 1975;87:917–921
  55. Feuillan PP, Jones J, Ross JL. Growth hormone hypersecretion in a girl with McCune-Albright syndrome: comparison with controls and response to a dose of long-acting somatostatinanalog. J Clin Endocrinol Metab. 1995;80:1357–1360
  56. Econs MJ, Drezner MK. Tumor-induced osteomalacia—unveiling a new hormone. N Engl J Med. 1994;330:1679–1681
  57. Grumbach MM, Styne DM. Puberty: ontogeny, neuroendocrinology, physiology, and disorders. In:  Wilson JD, et al. editor. Williams textbook of endocrinology. 9th ed. Philadelphia: WB Saunders; 1998;p. 1589
  58. Rieger E, Kofler R, Borkenstein M, et al. Melanotic macules following Blaschko's lines in McCune-Albright syndrome. Br J Dermatol. 1994;130:215–220
  59. Feullian PP, Foster CM, Pescovitz O, et al. Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. N Engl J Med. 1986;315:1115–1119
  60. Allgrove J. Use of bisphosphonates in children and adolescents. J Pediatr Endocrinol. 2002;15(Suppl 2):921–928
  61. Parekh SG, Donthineni-Rao R, Ricchetti E, et al. Fibrous dysplasia. J Am Aced Orthop Surg. 2004;12:305–313
  62. Isotani H, Sanda K, Kameoka K, et al. McCune-Albright syndrome associated with non-autoimmune type of hyperthyroidism with development of thyrotoxic crisis. Horm Res. 2000;53:256–259
  63. Borrelli A, Bergamini C, Lassig R, et al. Current indications of bilateral adrenalectomy in Cushing's syndrome: discussion of personal experience. G Chir. 2003;24:19–22
  64. Cremonini N, Graziano E, Chiarini V, et al. Atypical McCune-Albright syndrome associated with growth hormone–prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995—bromocriptine combined treatment results. J Clin Endocrinol Metab. 1992;75:1166–1169
  65. Tolis G. The role of somatostatin agonistic analogs in the teeatment of acromegaly. Metab Clin Exper. 1996;45(Suppl 1):109–110
  66. Erdheim J. Zur normalen und pathologishcen Histologie der glandula Thyroidea, Parathyroidea und hypophysis. Beitr Pathol Anat. 1903;33:1–234
  67. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med. 1954;16:363–371
  68. Carney JA. Familial multiple endocrine neoplasia: the first 100 years. Am J Surg Pathol. 2005;29:254–274
  69. Raue F, Frank-Raue K, Grauer A. Multiple endocrine neoplasia type 2: clinical features and screening. Endocrinol Metab Clin North Am. 1994;23:137–156
  70. O'Riordain DS, O'Brien T, Crotty TB, et al. Multiple endocrine neoplasia type 2 B: more than an endocrine disorder. Surgery. 1995;118:936–942
  71. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658–5671
  72. Neumann HP, Berger DP, Sigmund G, et al. Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease. N Engl J Med. 1993;329:1531–1538
  73. Webb TA, Sheps SG, Carney JA. Differences between sporadic pheochromocytoma and pheochromocytoma in multiple endocrine neoplasia type 2. Am J Surg Pathol. 1980;4:121–126
  74. Pomares FJ, Ca-as R, Rodriguez JM, et al. Differences between sporadic and multiple endocrine neoplasia type 2 A phaeochromocytoma. Clin Endocrinol. 1998;48:195–200
  75. Utiger RD. Medullary thyroid carcinoma, genes, and the prevention of cancer. N Engl J Med. 1994;331:870–871
  76. Schuffenecker I, Virally-Monod M, Brohet R, et al. Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. J Clin Endocrinol Metab. 1998;83:587–591
  77. Gagel RF, Levy ML, Donovan DT, et al. Multiple endocrine neoplasia type 2A associated with cutaneous lichen amyloidosis. Ann Intern Med. 1989;111:802–806
  78. Kousseff BG, Espinoza C, Zamore GA. Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a continuous gene?. J Am Acad Dermatol. 1991;25:651–657
  79. Wong CK, Lin CS. Friction amyloidosis. Int J Dermatol. 1988;27:302–307
  80. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol. 1997;133:853–857
  81. Asgharian B, Turner ML, Gibril F, et al. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. J Clin Endocrinol Metab. 2004;89:5328–5336
  82. Parthermore JG, Bronzert D, Roberts G, et al. A short calcium infusion in the diagnosis of medullary thyroid carcinoma. J Clin Endocrinol Metab. 1974;39:108–111
  83. Jayaram G. Fine needle aspiration cytologic study of the solitary thyroid nodule. Profile of 308 cases with histologic correlation. Acta Cytol. 1985;29:967–973
  84. Lenders JW, Pacak K, Walther MM, et al. Biochemical diagnosis of pheochromocytoma: which test is best?. JAMA. 2002;287:1427–1434
  85. Sawka AM, Jaeschke R, Singh RJ, et al. A comparison of biochemical tests for pheochromocytoma: measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. J Clin Endocrinol Metab. 2003;88:553–558
  86. Mulligan LM, Ponder BA. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 1995;80:1989–1995
  87. Gagel RF, Robinson MF, Donovan DT, et al. Clinical review 44: medullary thyroid cacrinoma: recent progress. J Clin Endocrinol Metab. 1993;76:809–814
  88. Wells SA, Dilley WG, Farndon JA, et al. Early diagnosis and treatment of medullary thyroid carcinoma. Arch Intern Med. 1985;145:1248–1252
  89. O'Riordain DS, O'Brien T, Grant CS, et al. Surgical management of primary hyperparathyroidism in multiple endocrine neoplasia types 1 and 2. Surgery. 1993;114:1031–1037
  90. Wells SA, Donis-Keller H. Current perspectives on the diagnosis and management of patients with multiple endocrine neoplasia type 2 syndromes. Endocrinol Metab Clin North Am. 1994;23:215–228
  91. Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985;64:270–283
  92. Atherton DJ, Pitcher DW, Wells RS, MacDonald DM. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br J Dermatol. 1980;103:421–429
  93. Rhodes AR, Silverman RA, Harrist TJ, Perez-Atayde AR. Mucocutaneous lentigines, cardiomucocutaneous myxomas, and multiple blue nevi: the “LAMB” syndrome. J Am Acad Dermatol. 1984;10:72–82
  94. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86:4041–4046
  95. Stratakis CA, Kirschner LS, Taymans SE, et al. Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocrinol Metab. 1998;83:2972–2976
  96. Lubrasch O. Veber den primaren Krebs des Ileum, nebst bemerkungen uber das gleichzeitige Vorkommen von Krebs und tuberkulose. Virchows Arch. 1988;111:280–285
  97. Obendorfer S. Karzinoide tumoren des dunndarms. Frankf Z Pathol. 1907;1:425–429
  98. Masson P. Carcinoids (argentaffin-cell tumors) and nerve hyperplasia of appendicular mucosa. Am J Pathol. 1928;4:181–186
  99. Bell HK, Poston GJ, Vora J, Wilson NJ. Cutaneous manifestations of the malignant carcinoid syndrome. Br J Dermatol. 2005;152:71–75
  100. Wilson H. Carcinoid syndrome. Curr Probl Surg. 1970;36–41
  101. Soga J, Yakuwa Y, Osaka M. Carcinoid syndrome: a statistical evaluation of 748 reported cases. J Exp Clin Cancer Res. 1999;18:133–141
  102. Kulke MH, Mayer RJ. Carcinoid tumors. N Engl J Med. 1999;340:858–868
  103. Maggard MA, O'Connell JB, Ko CY. Updated population-based review of carcinoid tumors. Ann Surg. 2004;240:117–122
  104. Caplin ME, Buscombe JR, Hilson AJ, et al. Carcinoid tumour. Lancet. 1998;352:799–805
  105. Davis Z, Moetel CG, Mellrath DC. The malignant carcinoid syndrome. Surg Gynecol Obstet. 1973;137:637–644
  106. Fink G, Krelbaum T, Yellin A, et al. Pulmonary carcinoid: presentation, diagnosis, and outcome in 142 cases in Israel and review of 640 cases from the literature. Chest. 2001;119:1647–1651
  107. Feldman JM. Carcinoid tumor and syndrome. Semin Oncol. 1987;14:237–246
  108. vonderOhe MR, Camilleri M, Kvols LK, et al. Motor dysfunction of the small bowel and colon in patients with carcinoid syndrome and diarrhea. N Engl J Med. 1993;329:1073–1078
  109. Wareing TH, Sawyers JL. Carcinoids and the carcinoid syndrome. Am J Surg. 1983;145:769–772
  110. Swain CP, Tavill AS, Neale G. Studies of tryptophan and albumin metabolism in patients with carcinoid syndrome, pellagra and hypoproteinemia. Gastroenterology. 1976;74:484–489
  111. Morin LJ, Zuerner RT. Retroperitoneal fibrosis and carcinoid tumor. JAMA. 1971;216:1647–1648
  112. Bivens CH, Marecek RL, Feldman JM. Peyronie's disease: presenting complaint of carcinoid syndrome. N Engl J Med. 1973;289:844–845
  113. Malchoff CD, Orth DN, Abboud JA, et al. Ectopic ACTH syndrome caused by a bronchial carcinoid tumor responsive to dexamethasone, metyrapone, and corticotropin-releasing factor. Am J Med. 1988;84:760–764
  114. Goldfinger SE. The carcinoid syndrome. In:  Rose BD editors. UpToDate. Waltham (Mass): UpToDate; 2005;
  115. Maton PN. The carcinoid syndrome. JAMA. 1988;260:1602–1605
  116. Marsh HM, Martin JK, Kvols LK, et al. Carcinoid crisis during anesthesia: successful treatment with a somatostatin analogue. Anesthesiology. 1987;66:89–91
  117. Melmon KL, Sjoerdsma A, Mason DT. Distinctive clinical and therapeutic aspects of the syndrome associated with foregut carcinoid tumors. Am J Med. 1965;39:568–581
  118. Durward G, Blackford S, Roberts D, Jones MK. Cutaneous scleroderma in association with carcinoid syndrome. Postgrad Med J. 1995;71:299–300
  119. Ratnavel RC, Burrows NP, Pye RJ. Scleroderma and the carcinoid syndrome. Clin Exp Dermatol. 1994;19:83–85
  120. Cokonis CD, Green JJ, Manders SM. Primary carcinoid tumor of the skin. J Am Acad Dermatol. 2004;51:S146–S148
  121. Feldman JM. Urinary serotonin in the diagnosis of carcinoid syndrome. Clin Chem. 1986;32:840–844
  122. Cough DB, Thompson GB, Crotty TB, et al. Diverse clinical and pathologic features of gastric carcinoid and the relevance of hypergastrinemia. World J Surg. 1994;18:473–479
  123. Dudiak KM, Johnson CD, Stephens DH. Primary tumors of the small intestine: CT evaluation. AJR AJR Am J Roentgenol. 1989;152:995–998
  124. Kaltas G, Korbonits M, Heintz E, et al. Comparison of somatostatin analog and meta-iodobenzylguanidine radionuclides in the diagnosis and localization of advanced neuroendocrine tumors. J Clin Endocrinol Metab. 2001;86:895–902
  125. De Vries EG, Kema IP, Slooff MJ, et al. Recent developments in diagnosis and treatment of metastatic carcinoid tumours. Scand J Gastroenterol Suppl. 1993;200:87–93
  126. Oberg K, Eriksson B. The role of interferons in the management of carcinoid tumors. Acta Oncol. 1991;30:519–522
  127. Godwin JD. Carcinoid tumors: an analysis of 2837 cases. Cancer. 1975;36:560–569
  128. Modlin IM, Sandor A. An analysis of 8305 cases of carcinoid tumors. Cancer. 1997;79:813–829
  129. Sagher F, Even-Paz Z. Mastocytosis and the mast cell. Basel (Switzerland): S. Karger AG; 1967;
  130. Valent P, Sperr WR, Schwart LB, et al. Diagnosis and classification of mast cell proliferative disorders: delineating from immunologic diseases and non-mast cell hematopoietic neoplasms. J Allergy Clin Immunol. 2004;114:3–11
  131. Valent P, Akin C, Sperr WR, et al. Diagnosis and treatment of systemic mastocytosis: state of the art. Br J Haematol. 2003;122:695–717
  132. Castells MC, Friend DS, Unnell BCA, et al. The presence of membrane-bound stem cell factor on highly immature nonmetachromatic mast cells in the peripheral blood of a patient with aggressive systemic mastocytosis. J Allergy Clin Ummunol. 1996;98:831–840
  133. Mekori YA. Lymphoid tissues and the immune system in mastocytosis. Hematol Oncol Clin North Am. 2000;14:569–577
  134. Lawrence JB, Friedman BS, Travis WD, et al. Hematologic manifestations of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am J Med. 1991;91:612–624
  135. Kauhanen P, Kovanen PT, Reunala T, et al. Effects of skin mast cells on bleeding time and coagulation activation at the site of platelet plug formation. Thromb Haemost. 1998;79:843–847
  136. Floman Y, Amir G. Systemic mastocytosis presenting with severe spinal osteopenia and multiple compression fractures. J Spinal Disord. 1991;4:369–373
  137. Horan RF, Austen KF. Systemic mastocytosis: retrospective review of a decade's clinical experience at the Brigham and Women's Hospital. J Invest Dermatol. 1991;96:5S–13S
  138. Kirshenbaum AS, Kettelhut BV, Metcalfe DD, et al. Mastocytosis in infants and children: recognition of patterns of skin disease. Allergy Proc. 1989;10:17–21
  139. Soter NA. Mastocytosis and the skin. Hematol Oncol Clin North Am. 2000;14:537–555
  140. Rajesh J, Dogra S, Verma S, Mohanty SK, Handa S. Diffuse cutaneous mastocytosis: pseudoxanthomatous variant. J Dermatol. 2002;29:354–356
  141. Requena L. Erythrodermic mastocytosis. Cutis. 1992;49:189–192
  142. Soter NA. The skin in mastocytosis. J Invest Dermatol. 1991;96:32S–38S
  143. Schwartz LB, Metcalfe DD, Miller JS, et al. Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis. N Engl J Med. 1987;316:1622–1626
  144. Schwartz LB, Sakai K, Bradford TR, et al. The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis. J Clin Invest. 1995;96:2702–2710
  145. Schwartz LB, Irani AM. Serum tryptase and the laboratory diagnosis of systemic mastocytosis. Hematol Oncol Clin North Am. 2000;14:641–657
  146. Granerus G, Olafsson JH, Roupe G. Studies on histamine metabolites in mastocytosis. J Invest Dermatol. 1983;80:410–416
  147. Godt O, Proksch E, Streit V, et al. Short- and long-term effectiveness of oral and bath PUVA therapy in urticaria pigmentosa and systemic mastocytosis. Dermatology. 1997;195:35–39
  148. Worobec AS. Treatment of systemic mast cell disorders. Hematol Oncol Clin North Am. 2000;14:659–687
  149. Horan RF, Sheffer AL, Austen KF. Cromolyn sodium in the management of systemic mastocytosis. J Allergy Clin Immunol. 1990;85:852–855
  150. Turk J, Oates JA, Roberts LJ. Intervention with epinephrine in hypotension associated with mastocytosis. J Allergy Clin Immunol. 1983;71:189–192
  151. Povoa P, Ducla-Soares J, Fernandes A, et al. A case of systemic mastocytosis ; therapeutic efficacy of ketotifen. J Intern Med. 1991;229:475–477
  152. Parker RI. Hematologic aspects of mastocytosis; management of hematologic disorders in association with systemic mast cell disease. J Invest Dermatol. 1991;96:52S–53S
  153. Casassus P, Caillat-Vigneron N, Martin A, et al. Treatment of adult systemic mastocytosis with interferon-alpha: results of a multicenter phase II trial on 20 patients. Br J Haematol. 2002;119:1090–1097
  154. Friedman BS, Metcalfe DD. Effects of tixocortol pivalate on gastrointestinal disease in systemic mastocytosis: a preliminary study. Clin Exp Allergy. 1991;21:183–188
  155. Friedman B, Darling G, Norton J, et al. Splenectomy in the management of systemic mast cell disease. Surgery. 1990;107:94–100

PII: S0738-081X(06)00047-2

doi: 10.1016/j.clindermatol.2006.04.005

Clinics in Dermatology
Volume 24, Issue 4 , Pages 299-316 , July 2006

Article Tools

* Image Usage & Resolution