메뉴 건너뛰기




Volumn 135, Issue 7, 1999, Pages 774-780

Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene

Author keywords

[No Author keywords available]

Indexed keywords

ACANTHOSIS NIGRICANS; ACTINIC KERATOSIS; ADOLESCENT; ADULT; ARTICLE; BASE PAIRING; CHILD; ECCHYMOSIS; EYE COLOR; FEMALE; GENE DUPLICATION; HAIR COLOR; HOMOZYGOSITY; HUMAN; LENTIGINOSIS; MAJOR CLINICAL STUDY; MALE; MELANOCYTIC NEVUS; OCULAR ALBINISM; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; SKIN MANIFESTATION; SKIN PIGMENTATION; THROMBOCYTE DISORDER;

EID: 0032798812     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.135.7.774     Document Type: Article
Times cited : (47)

References (46)
  • 1
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14:162-169.
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 4
    • 0023485139 scopus 로고
    • The reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
    • Witkop CJ, Krumwiede M, Sedano H, White JG. The reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol. 1987;26:305-311.
    • (1987) Am J Hematol. , vol.26 , pp. 305-311
    • Witkop, C.J.1    Krumwiede, M.2    Sedano, H.3    White, J.G.4
  • 6
    • 0025765273 scopus 로고
    • Hermansky-Pudlak syndrome with granulomatous colitis in children
    • Mahadeo R, Markowitz J, Fisher S, Daum F. Hermansky-Pudlak syndrome with granulomatous colitis in children. J Pediatr. 1991;118:904-906.
    • (1991) J Pediatr. , vol.118 , pp. 904-906
    • Mahadeo, R.1    Markowitz, J.2    Fisher, S.3    Daum, F.4
  • 7
    • 19244382144 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998;338:1258-1264.
    • (1998) N Engl J Med. , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brantly, M.2    Kaiser-Kupfer, M.I.3
  • 8
    • 0018751404 scopus 로고
    • Hermansky-Pudlak syndrome: Pulmonary manifestations of a ceroid storage disorder
    • Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome: pulmonary manifestations of a ceroid storage disorder. Am J Med. 1979;66:737-747.
    • (1979) Am J Med. , vol.66 , pp. 737-747
    • Garay, S.M.1    Gardella, J.E.2    Fazzini, E.P.3    Goldring, R.M.4
  • 9
    • 0017238370 scopus 로고
    • Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: A new syndrome
    • Davies BH, Tuddenham EGD. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect: a new syndrome. QJM. 1976; 45:219-232.
    • (1976) QJM , vol.45 , pp. 219-232
    • Davies, B.H.1    Tuddenham, E.G.D.2
  • 10
    • 0025473671 scopus 로고
    • Albinism and Hermansky-Pudlak syndrome in Puerto Rico
    • Witkop CJ, Babcock MN, Rao GHR, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990;82:333-339.
    • (1990) Bol Asoc Med P R , vol.82 , pp. 333-339
    • Witkop, C.J.1    Babcock, M.N.2    Rao, G.H.R.3
  • 12
    • 0032191713 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Models for intracellular vesicle formation
    • Shotelersuk V, Gahl WA. Hermansky-Pudlak syndrome: models for intracellular vesicle formation. Mol Genet Metab. 1998;65:85-96.
    • (1998) Mol Genet Metab. , vol.65 , pp. 85-96
    • Shotelersuk, V.1    Gahl, W.A.2
  • 13
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996;14:300-306.
    • (1996) Nat Genet. , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3
  • 14
    • 0030979236 scopus 로고    scopus 로고
    • Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene
    • Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol. 1997;108:923-927.
    • (1997) J Invest Dermatol. , vol.108 , pp. 923-927
    • Bailin, T.1    Oh, J.2    Feng, G.H.3    Fukai, K.4    Spritz, R.A.5
  • 15
    • 0021089173 scopus 로고
    • Syndrome d'Hermansky-Pudlak dans un village valaisan
    • Lattion F, Schneider PH, DaPrada M, et al. Syndrome d'Hermansky-Pudlak dans un village valaisan. Helv Paediatr Acta. 1983;38:495-512.
    • (1983) Helv Paediatr Acta , vol.38 , pp. 495-512
    • Lattion, F.1    Schneider, P.H.2    DaPrada, M.3
  • 17
    • 17344369131 scopus 로고    scopus 로고
    • Mutation analysis of patients with Hermansky-Pudlak syndrome: A frameshift hot spot in the HPS gene and apparent locus heterogeneity
    • Oh J, Ho L, Ala-Mello S, et al. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet. 1998;62:593-598.
    • (1998) Am J Hum Genet. , vol.62 , pp. 593-598
    • Oh, J.1    Ho, L.2    Ala-Mello, S.3
  • 18
    • 0031657556 scopus 로고    scopus 로고
    • Three new mutations in a gene causing Hermansky-Pudlak syndrome: Clinical correlations
    • Shotelersuk V, Larson D, Hazelwood S, et al. Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. Mol Gen Metab. 1998; 64:99-107.
    • (1998) Mol Gen Metab. , vol.64 , pp. 99-107
    • Shotelersuk, V.1    Larson, D.2    Hazelwood, S.3
  • 19
    • 0030848629 scopus 로고    scopus 로고
    • Homologous pigmentation mutations in human, mouse and other model organisms
    • Jackson IJ. Homologous pigmentation mutations in human, mouse and other model organisms. Hum Mol Genet. 1997;6:1613-1624.
    • (1997) Hum Mol Genet. , vol.6 , pp. 1613-1624
    • Jackson, I.J.1
  • 21
    • 0019364268 scopus 로고
    • The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency
    • Novak EK, Hui S-W, Swank RT. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Blood. 1981;57: 38-43.
    • (1981) Blood , vol.57 , pp. 38-43
    • Novak, E.K.1    Hui, S.-W.2    Swank, R.T.3
  • 22
    • 0030787866 scopus 로고    scopus 로고
    • The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
    • Gardner JM, Wildenberg SC, Keiper NM, et al. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. Proc Natl Acad Sci U S A. 1997;94:9238-9243.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 9238-9243
    • Gardner, J.M.1    Wildenberg, S.C.2    Keiper, N.M.3
  • 23
    • 0030954169 scopus 로고    scopus 로고
    • Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare "AT-AC" intron
    • Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare "AT-AC" intron. Hum Mol Genet. 1997;6:793-979.
    • (1997) Hum Mol Genet. , vol.6 , pp. 793-979
    • Feng, G.H.1    Bailin, T.2    Oh, J.3    Spritz, R.A.4
  • 25
    • 0039228323 scopus 로고
    • Degenerative diseases
    • Lever WF, Schaumberg-Lever G, eds. Philadelphia, Pa: JB Lippincott Co
    • Lever WF, Schaumberg-Lever G. Degenerative diseases. In: Lever WF, Schaumberg-Lever G, eds. Histopathology of the Skin. Philadelphia, Pa: JB Lippincott Co; 1990: 298-317.
    • (1990) Histopathology of the Skin , pp. 298-317
    • Lever, W.F.1    Schaumberg-Lever, G.2
  • 26
    • 0022489963 scopus 로고
    • Solar elastotic bands of the forearm: An unusual clinical presentation of actinic keratosis
    • Raimer SS, Sanchez RL, Hubler WR Jr, et al. Solar elastotic bands of the forearm: an unusual clinical presentation of actinic keratosis. J Am Acad Dermatol. 1986;15:650-656.
    • (1986) J Am Acad Dermatol. , vol.15 , pp. 650-656
    • Raimer, S.S.1    Sanchez, R.L.2    Hubler W.R., Jr.3
  • 28
    • 0030782362 scopus 로고    scopus 로고
    • Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
    • Hazelwood S, Shotelersuk V, Wildenberg SC, et al. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet. 1997;61:1088-1094.
    • (1997) Am J Hum Genet. , vol.61 , pp. 1088-1094
    • Hazelwood, S.1    Shotelersuk, V.2    Wildenberg, S.C.3
  • 29
    • 0011163138 scopus 로고
    • Congenital and genetic disorders associated with hypopigmentation
    • Orlow SJ. Congenital and genetic disorders associated with hypopigmentation. Curr Probl Dermatol. 1994;6:157-184.
    • (1994) Curr Probl Dermatol. , vol.6 , pp. 157-184
    • Orlow, S.J.1
  • 30
    • 0020068928 scopus 로고
    • The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome
    • Frenk E, Lattion F. The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. J Invest Dermatol. 1982;78:141-143.
    • (1982) J Invest Dermatol. , vol.78 , pp. 141-143
    • Frenk, E.1    Lattion, F.2
  • 32
    • 0031713271 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Report of a case with histological, immunohistochemical and ultrastructural findings
    • Husain S, Marsh E, Saenz-Santamaria MC, McNutt NS. Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings. J Cutan Pathol. 1998;25:380-385.
    • (1998) J Cutan Pathol. , vol.25 , pp. 380-385
    • Husain, S.1    Marsh, E.2    Saenz-Santamaria, M.C.3    McNutt, N.S.4
  • 33
    • 0019811914 scopus 로고
    • The effect of various sunscreen agents on skin damage and the induction of tumor susceptibility in mice subjected to ultraviolet irradiation
    • Gurish MF, Roberts LK, Krueger GG, et al. The effect of various sunscreen agents on skin damage and the induction of tumor susceptibility in mice subjected to ultraviolet irradiation. J Invest Dermatol. 1981;76:246-251.
    • (1981) J Invest Dermatol. , vol.76 , pp. 246-251
    • Gurish, M.F.1    Roberts, L.K.2    Krueger, G.G.3
  • 34
    • 0020066340 scopus 로고
    • Prevention of ultraviolet damage to the dermis of hairless mice by sunscreens
    • Kligman LH, Akin FJ, Kligman AM. Prevention of ultraviolet damage to the dermis of hairless mice by sunscreens. J Invest Dermatol. 1982;78:181-189.
    • (1982) J Invest Dermatol. , vol.78 , pp. 181-189
    • Kligman, L.H.1    Akin, F.J.2    Kligman, A.M.3
  • 35
    • 0021906882 scopus 로고
    • Contributions of UVA and UVB to connective tissue damage in hairless mice
    • Kligman LH, Akin FJ, Kligman AM. Contributions of UVA and UVB to connective tissue damage in hairless mice. J Invest Dermatol. 1985;84:272-276.
    • (1985) J Invest Dermatol. , vol.84 , pp. 272-276
    • Kligman, L.H.1    Akin, F.J.2    Kligman, A.M.3
  • 36
    • 0025863833 scopus 로고
    • Sunscreens with low sun protection factor inhibit ultraviolet B and A photoaging in the skin of the hairless albino mouse
    • Harrison JA, Walker SL, Plastow SR, et al. Sunscreens with low sun protection factor inhibit ultraviolet B and A photoaging in the skin of the hairless albino mouse. Photodermatol Photoimmunol Photomed. 1991;8:12-20.
    • (1991) Photodermatol Photoimmunol Photomed. , vol.8 , pp. 12-20
    • Harrison, J.A.1    Walker, S.L.2    Plastow, S.R.3
  • 37
    • 0020525052 scopus 로고
    • Sunscreen promote repair of ultraviolet radiation-induced dermal damage
    • Kligman LH, Akin FJ, Kligman AM. Sunscreen promote repair of ultraviolet radiation-induced dermal damage. J Invest Dermatol. 1983;81:98-102.
    • (1983) J Invest Dermatol. , vol.81 , pp. 98-102
    • Kligman, L.H.1    Akin, F.J.2    Kligman, A.M.3
  • 38
    • 0023098819 scopus 로고
    • Connective tissue photodamage in the hairless mouse is partially reversible
    • Kligman LH. Connective tissue photodamage in the hairless mouse is partially reversible. J Invest Dermatol. 1987;88(suppl):12S-17S.
    • (1987) J Invest Dermatol. , vol.88 , Issue.SUPPL.
    • Kligman, L.H.1
  • 39
    • 0028805247 scopus 로고
    • The effects of chronic sunscreen use on the histologic changes of dermatoheliosis
    • Boyd AS, Naylor M, Cameron GS, et al. The effects of chronic sunscreen use on the histologic changes of dermatoheliosis. J Am Acad Dermatol. 1995;33:941-946.
    • (1995) J Am Acad Dermatol. , vol.33 , pp. 941-946
    • Boyd, A.S.1    Naylor, M.2    Cameron, G.S.3
  • 40
    • 0018138204 scopus 로고
    • Multiple naevocellular naevi in brothers with albinism
    • Tsuji T, Saito T. Multiple naevocellular naevi in brothers with albinism. Br J Dermatol. 1978;78:685-692.
    • (1978) Br J Dermatol. , vol.78 , pp. 685-692
    • Tsuji, T.1    Saito, T.2
  • 41
    • 0017644338 scopus 로고
    • Oculocutaneous albinism and multiple pigmented naevi
    • Roller JA, Hahn M. Oculocutaneous albinism and multiple pigmented naevi. Br J Dermatol. 1977;97:698.
    • (1977) Br J Dermatol. , vol.97 , pp. 698
    • Roller, J.A.1    Hahn, M.2
  • 42
    • 0021127489 scopus 로고
    • Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism
    • Pehamberger H, Honigsmann H, Wolff K. Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. J Am Acad Dermatol. 1984;11:731-735.
    • (1984) J Am Acad Dermatol. , vol.11 , pp. 731-735
    • Pehamberger, H.1    Honigsmann, H.2    Wolff, K.3
  • 43
    • 84907116018 scopus 로고
    • The Hermansky-Pudlak syndrome: Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time
    • Van Dorp DB, Wijermans PW, Meire F, Vrensen G. The Hermansky-Pudlak syndrome: variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time. Ophthalmic Paediatr Genet. 1990;11:237-244.
    • (1990) Ophthalmic Paediatr Genet. , vol.11 , pp. 237-244
    • Van Dorp, D.B.1    Wijermans, P.W.2    Meire, F.3    Vrensen, G.4
  • 44
    • 0026470860 scopus 로고
    • Nonmelanoma cancers of the skin
    • Preston D, Stern R. Nonmelanoma cancers of the skin. N Engl J Med. 1992;327: 1649-1662.
    • (1992) N Engl J Med. , vol.327 , pp. 1649-1662
    • Preston, D.1    Stern, R.2
  • 45
    • 0032587547 scopus 로고    scopus 로고
    • The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl: A model for Hermansky Pudlak syndrome and night blindness
    • Feng L, Seymour AB, Jiang S, et al. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl: a model for Hermansky Pudlak syndrome and night blindness. Hum Mol Genet. 1999;8: 323-330.
    • (1999) Hum Mol Genet. , vol.8 , pp. 323-330
    • Feng, L.1    Seymour, A.B.2    Jiang, S.3
  • 46
    • 0033007616 scopus 로고    scopus 로고
    • Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the Ap-3 adaptor
    • Dell'Angelica EC, Shotelersuk V, Agilar RC, et al. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the Ap-3 adaptor. Mol Cell. 1999;3:11-21.
    • (1999) Mol Cell. , vol.3 , pp. 11-21
    • Dell'Angelica, E.C.1    Shotelersuk, V.2    Agilar, R.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.