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Boletín Médico del Hospital Infantil de México

2012, Number 4

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Bol Med Hosp Infant Mex 2012; 69 (4)

Hermansky-Pudlak syndrome: variable clinical expression in two cases

Paredes AR, López SN, Monsiváis OA, Carrasco DD, Salazar-Bailón JL

Language: Spanish
References: 23
Page: 300-306
PDF size: 230.22 Kb.


ABSTRACT

Background. Hermansky-Pudlak syndrome is a genetic disorder characterized by albinism and bleeding of varying degrees due to alteration in the structure of the platelets. The disorder may be accompanied by pulmonary, intestinal or kidney involvement. Identification of several genetic alterations in this syndrome has been reported.
Case reports. We present two cases: the first of an adolescent male with mucocutaneous albinism and renal involvement. Bleeding episodes started after being subjected to invasive studies and venipunctures, developing a perinephric hematoma. After severe sepsis, the patient developed hemoperitoneum and pulmonary hemorrhage, which precipitated the patient’s death. Diagnosis was made postmortem. In the second case, a female patient was diagnosed during infancy due to albinism and bleeding episodes, with progressive pulmonary fibrosis that to date has limited her vital lung capacity.
Conclusions. Early diagnosis of the syndrome as well as the correct approach may prevent the development of complications or limit the evolution. It is still under debate whether the genetic alterations described are associated with the expression of any particular clinical manifestation.


REFERENCES

  1. Gahl WA. Hermansky Pudlak Syndrome. Gene Reviews. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK1287

  2. Gamboa-Marrufo JD, Loperena-Anzaldúa L, Bello-González A. Albinismo y enfermedad hemorrágica. Síndrome de Hermansky y Pudlak. Presentación de un caso. Bol Med Hosp Inf Mex 1984;41:53-55.

  3. Boztug K, Welte K, Zeidler C, Klein C. Congenital neutropenia syndromes. Immunol Allergy Clin North Am 2008;28:259-275.

  4. Bomalaski JS, Greene D, Carone F. Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. Arch Intern Med 1983;143:809-811.

  5. Schachne JP, Glaser N, Lee SH, Kress Y, Fisher M. Hermansky-Pudlak syndrome: case report and clinicopathologic review. J Am Acad Dermatol 1990;22:926-932.

  6. Sánchez MR. Cutaneos diseases in Latinos. Dermatol Clin 2003;21:689-697.

  7. El-Molfy MA, Esmat SM, Abdel-Halim MR. Pigmentary disorders in the Mediterranean area. Dermatol Clin 2007;25:401-417.

  8. Neunert CE, Journeycake JM. Congenital platelet disorders. Hematol Oncol Clin North Am 2007;21:663-684.

  9. Córdova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C, Santiago-Borrero PJ. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer 2005;44:51-54.

  10. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 2000;117:129-136.

  11. Sandrok K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, et al. Compound heterozygous mutations in siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klin Padriatr 2010;3:168-174.

  12. Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, et al. Genetic diagnosis of primary immune deficiencies. Immunol Allergy Clin North Am 2008;28:387-412.

  13. Dessinioti C, Stratigos AJ, Rigopoulus D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol 2009;18:741-749.

  14. Ciciotte S, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, et al. Cappuccino, a mouse model of Hermansky- Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood 2003;101:4402-4407.

  15. Huizing M, Anikster Y, Gahl WA. Hermansky-Pudlak syndrome and related disorders of organelle formation. Traffic 2000;1:823-835.

  16. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 2006;108:362-369.

  17. Gerrard JM, Lint, D, Sims PJ, Wiedmer T, Fugate RD, McMillan E, et al. Identification of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky Pudlak syndrome. Blood 1991;1:101-112.

  18. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, et al. Innate immunity defects in Hermansky Pudlak type 2 syndrome. Blood 2006;107:4857-4864.

  19. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood 2006;108:81-87.

  20. Gunay-Aygun M, Huizing M, Gahl WA. Molecular defects that affect platelet dense granules. Semin Thromb Hemost 2004;30:537-547.

  21. White JG, Edson JR, Desnick SJ, Witkop CJ Jr. Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Am J Pathol 1971;63:319-332.

  22. Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT. The Hermansky Pudlak syndrome 1 (HPS1) and HPS2 genes independiently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood 2002;99:1651-1658.

  23. Carmona-Rivera C, Golas G, Hess R, Cardillo ND, Martin EH, O’Brien K, et al. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. J Invest Dermatol 2011;131:2394-2400. doi: 10.1038/jid.2011.228.




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