Reuven Bergman

Summary

Country: Israel

Publications

  1. ncbi request reprint Histopathology of hypotrichosis with juvenile macular dystrophy
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Am J Dermatopathol 26:205-9. 2004
  2. pmc Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review
    Yonatan Butbul Aviel
    Department of Pediatrics B, Haifa, Israel
    Pediatr Rheumatol Online J 10:18. 2012
  3. doi request reprint Multiple trichoepitheliomas associated with a novel heterozygous mutation in the CYLD gene as an adjunct to the histopathological diagnosis
    Bergman Reuven
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Am J Dermatopathol 35:445-7. 2013
  4. doi request reprint Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Dermatopathol 34:597-601. 2012
  5. ncbi request reprint Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    Reuven Bergman
    The Department of Dermatology, Rambam Medical Center, Technion Israel, Institute of Technology, Haifa
    Am J Dermatopathol 27:333-8. 2005
  6. doi request reprint Dermatopathology and molecular genetics
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 58:452-7. 2008
  7. ncbi request reprint Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa 31096, Israel
    J Am Acad Dermatol 57:463-6. 2007
  8. ncbi request reprint Cutaneous lymphoid hyperplasia presenting as a solitary facial nodule: clinical, histopathological, immunophenotypical, and molecular studies
    Reuven Bergman
    Department of Dermatology and Dermatopathology Section, Rambam Medical Center, and the Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel
    Arch Dermatol 142:1561-6. 2006
  9. ncbi request reprint The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel
    Arch Dermatol 141:343-51. 2005
  10. doi request reprint A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa, Israel
    Am J Dermatopathol 30:101-5. 2008

Detail Information

Publications83

  1. ncbi request reprint Histopathology of hypotrichosis with juvenile macular dystrophy
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Am J Dermatopathol 26:205-9. 2004
    ..There were no signs of inflammation or scarring. Thus, the most frequent histologic abnormality in HJMD resembles chronic telogen effluvium. This suggests that absence of functional P-cadherin interferes with normal hair cycle...
  2. pmc Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review
    Yonatan Butbul Aviel
    Department of Pediatrics B, Haifa, Israel
    Pediatr Rheumatol Online J 10:18. 2012
    ..The disorder is caused by a mutation in the PEPD gene...
  3. doi request reprint Multiple trichoepitheliomas associated with a novel heterozygous mutation in the CYLD gene as an adjunct to the histopathological diagnosis
    Bergman Reuven
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Am J Dermatopathol 35:445-7. 2013
    ..This frameshift mutation was also present in a heterozygous state in the TE tumor cells. The demonstration of a novel CYLD mutation was used as an adjunct to the histopathological diagnosis in this case...
  4. doi request reprint Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Dermatopathol 34:597-601. 2012
    ..These shared histopathological features of AKV with DD suggest that AKV and DD are allelic disorders with variable expression of the same disease, although identical mutations in ATP2A2 in AKV and DD were not reported to date...
  5. ncbi request reprint Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome
    Reuven Bergman
    The Department of Dermatology, Rambam Medical Center, Technion Israel, Institute of Technology, Haifa
    Am J Dermatopathol 27:333-8. 2005
    ..The hair follicle findings suggest disturbance in the hair cycle, which might be attributed to disturbed nuclear PKP1 function or result from aberrant desmosomal signaling...
  6. doi request reprint Dermatopathology and molecular genetics
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 58:452-7. 2008
    ..The following is a review of some of the recent discoveries and how they interact with dermatopathology...
  7. ncbi request reprint Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa 31096, Israel
    J Am Acad Dermatol 57:463-6. 2007
    ..Intracellular keratin aggregation and clumping is a characteristic ultrastructural feature in epidermolysis bullosa simplex (EBS)-Dowling Meara (DM) yet without histologic correlates in routinely stained specimens...
  8. ncbi request reprint Cutaneous lymphoid hyperplasia presenting as a solitary facial nodule: clinical, histopathological, immunophenotypical, and molecular studies
    Reuven Bergman
    Department of Dermatology and Dermatopathology Section, Rambam Medical Center, and the Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel
    Arch Dermatol 142:1561-6. 2006
    ..To elucidate the clinicopathological, immunophenotypical, and molecular characteristics of cutaneous lymphoid hyperplasia presenting as a solitary facial nodule...
  9. ncbi request reprint The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel
    Arch Dermatol 141:343-51. 2005
    ..To establish the unique and common clinical and microscopic characteristics of the alopecias associated with vitamin D-dependent rickets (VDDR) type IIA and with hairless gene mutations...
  10. doi request reprint A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa, Israel
    Am J Dermatopathol 30:101-5. 2008
    ..In conclusion, varying degrees of dyskeratosis are frequently present in EHK and EPPK and should be considered to be a histological characteristic of these disorders...
  11. doi request reprint Psoriasis patients generate increased serum levels of autoantibodies to tumor necrosis factor-alpha and interferon-alpha
    R Bergman
    Department of Dermatology, Rambam Medical Center, Israel
    J Dermatol Sci 56:163-7. 2009
    ....
  12. ncbi request reprint The handheld dermatoscope as a nail-fold capillaroscopic instrument
    Reuven Bergman
    Departments of Dermatology and Rheumatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Haifa, Israel
    Arch Dermatol 139:1027-30. 2003
    ..Subjects The study included 106 patients who were consecutively referred and a control group of 170 healthy subjects or patients with unrelated skin disorders...
  13. doi request reprint Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 62:107-13. 2010
    ..Recent developments in molecular genetics may lead to re-examination of the histopathology of inherited palmoplantar keratodermas (PPKs) based on more precise groupings of the various entities and syndromes...
  14. doi request reprint Pseudolymphoma and cutaneous lymphoma: facts and controversies
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Clin Dermatol 28:568-74. 2010
    ..A watchful follow-up is warranted in idiopathic cases, and consideration should always be given to surgical or medical therapy...
  15. doi request reprint A study of histologic and immunophenotypical staining patterns in cutaneous lymphoid hyperplasia
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
    J Am Acad Dermatol 65:112-24. 2011
    ..Cutaneous lymphoid hyperplasia (CLH) is generally classified according to clinicopathologic entities or put into broad spectrums of B-cell or T-cell predominance or co-dominance...
  16. ncbi request reprint Clinicopathologic reassessment of non-mycosis fungoides primary cutaneous lymphomas during 17 years
    Reuven Bergman
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Int J Dermatol 41:735-43. 2002
    ..The aim of our study was to evaluate the applicability and significance of the new classification systems to the diagnosis and management of non-mycosis fungoides (non-MF) PCL...
  17. doi request reprint Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
    Dov Hershkovitz
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, PO Box 9602, Haifa 31096, Israel
    Arch Dermatol 144:334-40. 2008
    ..1. Neurological signs and ichthyosis almost invariably accompany the disease...
  18. pmc Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14
    Jennie Lugassy
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Technion Israel Institute of Technology, Haifa, Israel
    Am J Hum Genet 79:724-30. 2006
    ....
  19. pmc A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Am J Hum Genet 79:759-64. 2006
    ..Our data suggest that SAMD9 is involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders...
  20. pmc A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Hum Genet 77:242-51. 2005
    ..These data underscore the importance of vesicle trafficking regulatory mechanisms for proper neuroectodermal differentiation...
  21. ncbi request reprint Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations
    Mordechai Mizrachi-Koren
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Am Acad Dermatol 55:393-401. 2006
    ....
  22. pmc A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis
    Shirli Israeli
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv 64239, Israel
    Am J Hum Genet 88:482-7. 2011
    ..LIPN encodes one of six acid lipases known to be involved in triglyceride metabolism in mammals . LIPN was found to be exclusively expressed in the epidermis and to be strongly induced during keratinocyte differentiation...
  23. ncbi request reprint Rapid detection of homozygous mutations in congenital recessive ichthyosis
    Jennie Lugassy
    Department of Dermatology, Laboratory of Molecular Dermatology, Rambam Health Care Campus, Rambam Medical Center, Haifa, Israel
    Arch Dermatol Res 300:81-5. 2008
    ..2058delC) and FLJ39501 (p.W521X). The present data demonstrate that the molecular analyses of CRI in consanguineous families can be readily completed in less than 96 h at relatively low costs...
  24. doi request reprint The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12
    Tomer Goldsmith
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Exp Dermatol 22:251-4. 2013
    ..Synonymous mutations have been shown to uncommonly cause inherited disorders in humans. Here, we present the first example of a congenital form of ichthyosis resulting from such a genetic defect...
  25. doi request reprint A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families
    Sagi Nahum
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel
    Arch Dermatol Res 301:391-3. 2009
    ..Through the identification of the first duplication mutation in the human LIPH gene, we provide further evidence supporting a role for the phospholipase signalling pathway in hair growth and differentiation...
  26. doi request reprint Insulin-like growth factor-binding protein 7 regulates keratinocyte proliferation, differentiation and apoptosis
    Janna Nousbeck
    Center for Translational Genetics, Rappaport Institute and Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    J Invest Dermatol 130:378-87. 2010
    ..These data position IGFBP7 as a regulator of KC proliferation and differentiation, suggesting a potential role for this protein in the pathophysiology and treatment of hyperproliferative dermatoses such as psoriasis...
  27. ncbi request reprint Epidermolysis bullosa simplex with mottled pigmentation resulting from a recurrent mutation in KRT14
    Avikam Harel
    Pediatric Dermatology Unit, Dana s Children s Hospital, Sourasky Medical Center, Tel Aviv, Haifa, Israel
    J Invest Dermatol 126:1654-7. 2006
  28. ncbi request reprint A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification
    Ilana Chefetz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, 9602, Haifa, Israel
    Hum Genet 118:261-6. 2005
    ..The mutation (M96T) was found to affect a highly conserved methionine residue at position 96 of the protein. These observations illustrate the extent of genetic and phenotypic heterogeneity in HFTC...
  29. doi request reprint ADULT syndrome caused by a mutation previously associated with EEC syndrome
    Emily Avitan-Hersh
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Pediatr Dermatol 27:643-5. 2010
    ..We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes...
  30. ncbi request reprint Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 120:623-6. 2003
    ..Our results, together with previous observations, establish the existence of a subgroup of keratin disorders due to frameshift mutations altering the keratin tail domains that are characterized by phenotypic heterogeneity...
  31. ncbi request reprint [Generalized pustular psoriasis of pregnancy]
    Emily Avitan-Hersh
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Harefuah 151:555-7, 606. 2012
    ..Therefore, early diagnosis and treatment are important. We present a case report of a patient who responded to corticosteroids and a review of the literature...
  32. ncbi request reprint KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome
    Jennie Lugassy
    Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    J Invest Dermatol 128:1517-24. 2008
    ....
  33. ncbi request reprint Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy
    Margarita Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 121:1217-20. 2003
    ....
  34. ncbi request reprint Infection with Kaposi's sarcoma-associated herpesvirus among families of patients with classic Kaposi's sarcoma
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa
    Arch Dermatol 141:1429-34. 2005
    ..A sexual mode of virus transmission is recognized among homosexual men, whereas the precise transmission routes in the heterosexual population and those with CKS are still unclear...
  35. ncbi request reprint Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1
    Hannah Keren
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol 141:625-8. 2005
    ..Mutations in genes coding for 2 desmosomal proteins, desmoglein 1 and desmoplakin, have been shown to cause autosomal dominant keratoderma palmoplantaris striata...
  36. doi request reprint Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris
    Ofer Sarig
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    J Invest Dermatol 132:1798-805. 2012
    ..Further supporting the relevance of ST18 to PV, we found this gene to be overexpressed in the skin of PV patients as compared with healthy individuals...
  37. ncbi request reprint Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Dermatopathol 27:211-5. 2005
    ..Our data provide for the first time evidence for ppGalNAc-T3 deficiency in the skin of HFTC patients and suggest that immunostaining of skin biopsy samples for ppGal-Nac-T3 might be a useful tool for the diagnosis of HFTC...
  38. ncbi request reprint A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
    Margarita Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 119:1210-3. 2002
    ..Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder...
  39. doi request reprint Contact hypersensitivity in patients with primary cutaneous lymphoproliferative disorders
    Ziad Khamaysi
    Department of Dermatology, Rambam Health Care Campus, and Faculty of Medicine, Technion, Institute of Technology, Haifa, Israel
    Int J Dermatol 50:423-7. 2011
    ..One of the suggested causes of primary cutaneous lymphoproliferative disorders is persistent antigenic stimulation...
  40. ncbi request reprint Epidermolysis bullosa simplex in Israel: clinical and genetic features
    Dan Ciubotaru
    The Gunther Kahn Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Arch Dermatol 139:498-505. 2003
    ..Extensive studies in the United States and Europe have shown that EBS is almost always inherited in an autosomal dominant fashion...
  41. pmc Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis
    Janna Nousbeck
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, 31096 Haifa, Israel
    Am J Hum Genet 82:1114-21. 2008
    ....
  42. doi request reprint A novel mutation in RASA1 causes capillary malformation and limb enlargement
    Dov Hershkovitz
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, Haifa, Israel
    Arch Dermatol Res 300:385-8. 2008
    ..A novel mutation in RASA1 was found to underlie the disease in this case. The present results illustrate the extensive degree of phenotypic heterogeneity associated with deleterious mutations in RASA1...
  43. doi request reprint Postzygotic HRAS mutation causing both keratinocytic epidermal nevus and thymoma and associated with bone dysplasia and hypophosphatemia due to elevated FGF23
    Emily Avitan-Hersh
    Division of Pediatric Endocrinology V G, D T, Department of Pediatrics B S T, R Br, Department of Dermatology E A H, R Be, Laboratory of Molecular Dermatology M I, R Be, Department of Radiology R S, and Department of Pathology D H, Meyer Children s Hospital, Rambam Health Care Campus, Haifa 33705, Israel and Bruce Rappaport Faculty of Medicine R Br, R Be, D T, Institute of Technology, Haifa 32000, Israel
    J Clin Endocrinol Metab 99:E132-6. 2014
    ..We report a case of keratinocytic epidermal nevus syndrome that includes a thymoma, bone dysplasia, and hypophosphatemia with elevated fibroblast growth factor 23 (FGF23) levels associated with postzygotic HRAS mutation...
  44. ncbi request reprint The autologous serum skin test in a cohort of chronic idiopathic urticaria patients compared to respiratory allergy patients and healthy individuals
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Eur Acad Dermatol Venereol 21:35-9. 2007
    ..However, positive ASST results have also occasionally been demonstrated in patients with other diseases and in healthy subjects...
  45. ncbi request reprint A newborn presenting with congenital blistering
    Izabella Klein
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    Int J Dermatol 43:295-7. 2004
  46. ncbi request reprint Preservatives sensitivity in Israel: a 10-year overview (1995-2004)
    Lilach Zoller
    Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel
    Contact Dermatitis 55:227-9. 2006
    ..Overall, this extensive survey showed a concerning increase in the sensitivity rates for MCI/MI, formaldehyde, and MDBGN...
  47. doi request reprint Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome
    Shirli Israeli
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Dermatology 228:183-8. 2014
    ..It is caused by mutations in SPINK5, which encodes the serine protease inhibitor LEKTI...
  48. doi request reprint Multifocal congenital lymphangioendotheliomatosis without gastrointestinal bleeding and/or thrombocytopenia
    Ziad Khamaysi
    Department of Dermatology, Technion, Israel Institute of Technology, Haifa, Israel
    Am J Dermatopathol 32:804-8. 2010
    ....
  49. ncbi request reprint Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
    Orit Topaz
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Nat Genet 36:579-81. 2004
    ..Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease...
  50. doi request reprint The applicability of the new WHO-EORTC classification of primary cutaneous lymphomas to a single referral center
    Ziad Khamaysi
    Dermatology, Rambam Medical Center, The Bruce Rappaport Faculty of Medicine, Technion, Institute of Technology, Haifa, Israel
    Am J Dermatopathol 30:37-44. 2008
    ..However, there is still a substantial subset of T-cell PCLs which cannot be classified beyond the unspecified peripheral T-cell category, some of which may have an aggressive course...
  51. ncbi request reprint A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia
    Izabella Klein
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 119:920-2. 2002
    ..This study presents the first evidence in humans for the functional importance of the hairless thyroid receptor interacting domain 2...
  52. ncbi request reprint Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families
    Eli Sprecher
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 122:647-51. 2004
    ..These two cases emphasize the role of molecular genetics in the assessment of congenital blistering in newborns and illustrate the importance of proper desmosomal activity for normal epidermis development and function...
  53. ncbi request reprint Familial mycosis fungoides: report of 6 kindreds and a study of the HLA system
    Emmilia Hodak
    Department of Dermatology, Sackler Faculty of Medicine, Tel Aviv University, Petah Tiqva, Israel
    J Am Acad Dermatol 52:393-402. 2005
    ..Recently, the HLA class II alleles DRB1* 11 and DQB1* 03 have been found to be significantly increased for patients with sporadic MF, suggesting a possible immunogenetic basis for the pathogenesis of this malignancy...
  54. ncbi request reprint A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa
    Dan Petronius
    Department of Dermatology, Rambam Medical Center, Haifa, Israel
    Am J Dermatopathol 25:198-203. 2003
    ....
  55. ncbi request reprint Low dose methotrexate therapy is effective in late-onset atopic dermatitis and idiopathic eczema
    Lilach Zoller
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    Isr Med Assoc J 10:413-4. 2008
    ..Methotrexate therapy has been suggested as a useful immunosuppressant in adult atopic dermatitis...
  56. ncbi request reprint Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques
    Baruch Mevorah
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Am Acad Dermatol 53:S266-72. 2005
  57. doi request reprint A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease
    Emily Avitan-Hersh
    Departments of Dermatology, Technion Institute of Technology, Haifa, Israel
    Am J Dermatopathol 33:47-51. 2011
    ....
  58. ncbi request reprint Targeting perlecan in human keratinocytes reveals novel roles for perlecan in epidermal formation
    Ifat Sher
    Department of Biology, Technion, Israel Institute of Technology, 32000 Haifa, Israel
    J Biol Chem 281:5178-87. 2006
    ..Our results suggested a model whereby perlecan regulates these processes via controlling the bioavailability of perlecan-binding soluble factors involved in epidermal morphogenesis...
  59. doi request reprint Anti-laminin-332 mucous membrane pemphigoid developing after a diphtheria tetanus vaccination
    Tanya Sezin
    Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
    JAMA Dermatol 149:858-62. 2013
    ..A case of anti-laminin-332 mucous membrane pemphigoid (MMP) that developed shortly after a diphtheria tetanus vaccination is described, with a review of the literature on postvaccination BP...
  60. ncbi request reprint Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population
    Judeh Abu Sa'd
    Department of Life Sciences, Bethlehem University, Palestinian Authority, Haifa, Israel
    J Invest Dermatol 126:777-81. 2006
    ..Our data raise the possibility that similar differences may also be found in other genetically heterogeneous groups of disorders, and indicate the need for population-specific diagnostic and management approaches...
  61. ncbi request reprint A comparison of anti-desmoglein antibodies and indirect immunofluorescence in the serodiagnosis of pemphigus vulgaris
    Irena Zagorodniuk
    Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Int J Dermatol 44:541-4. 2005
    ....
  62. ncbi request reprint Absence of Kaposi's sarcoma-associated herpesvirus in lesions of mycosis fungoides in patients with concomitant Kaposi's sarcoma
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    J Am Acad Dermatol 51:S133-4. 2004
  63. ncbi request reprint Treatment of severe chronic idiopathic urticaria with oral mycophenolate mofetil in patients not responding to antihistamines and/or corticosteroids
    Eduardo Shahar
    Institute of Allergy, Clinical Immunology and AIDS, Rambam Medical Center, Haifa, Israel
    Int J Dermatol 45:1224-7. 2006
    ..Potential adverse effects, however, limit this regimen...
  64. ncbi request reprint Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13
    Mordechai Mizrachi-Koren
    Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 125:456-62. 2005
    ..No deleterious mutations were identified within the coding region of this gene, suggesting the existence of another gene associated with epidermal differentiation on 12p11.2-q13...
  65. doi request reprint Sweet's syndrome-like neutrophilic dermatosis resulting from exposure to a radiocontrast agent
    Yossef Alper
    Department of Dermatology, Rambam Medical Center, and Technion Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    J Am Acad Dermatol 58:488-9. 2008
    ....
  66. doi request reprint A lack of significantly increased incidence of regression in second primary melanomas does not support an 'immunization effect'
    Lilach Zoller
    Department of Dermatology, Rambam Medical Center, Rehov H Aliya, Bat Galim, Haifa, Israel
    J Cutan Pathol 37:1140-4. 2010
    ..To compare the incidence of regression in first and second primary melanomas as a possible indication of an 'immunization effect'...
  67. ncbi request reprint Positive patch test reactions to allergens of the dental series and the relation to the clinical presentations
    Ziad Khamaysi
    Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel
    Contact Dermatitis 55:216-8. 2006
    ..However, a strong association with contact allergy to mercury in dental fillings was found in 2 patients with orofacial granulomatosis...
  68. ncbi request reprint Human telomerase RNA component expression in Spitz nevi, common melanocytic nevi, and malignant melanomas
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center, 31096 Haifa, Israel
    J Cutan Pathol 29:341-6. 2002
    ..The aim of the present study was to elucidate the pattern of expression of the human telomerase RNA (hTER) component in routinely processed specimens of Spitz nevi, malignant melanomas, and ordinary melanocytic nevi...
  69. ncbi request reprint Familial clustering of classic Kaposi sarcoma
    Emma Guttman-Yassky
    Department of Dermatology, Rambam Medical Center, and Department of Cell Biology and Anatomy, Bruce Rappaport Faculty of Medicine, Haifa, Israel
    J Infect Dis 189:2023-6. 2004
    ..We hypothesize that a genetic susceptibility to KS, in combination with KSHV infection, may play an important role in the presented familial case...
  70. pmc Large leg ulcers due to autoimmune diseases
    Alexander P Rozin
    B Shine Department of Rheumatology, Rambam Health Care Campus and Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Med Sci Monit 17:CS1-7. 2011
    ..Large leg ulcers (LLU) may complicate autoimmune diseases. They pose a therapeutic challenge and are often resistant to treatment. To report three cases of autoimmune diseases complicated with LLU...
  71. ncbi request reprint Insect bite-like reaction associated with mantle cell lymphoma: a report of two cases and review of the literature
    Roni P Dodiuk-Gad
    Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Int J Dermatol 43:754-8. 2004
    ..The pathogenesis of the skin eruption may be related to the release of different cytokines that also trigger an IgE elevation and dermal eosinophils...
  72. ncbi request reprint Ulcerative vulvitis circumscripta plasmacellularis
    Ido Solt
    Department of Obstetrics and Gynecology, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel
    Isr Med Assoc J 6:117-8. 2004
  73. ncbi request reprint A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin
    Stavit A Shalev
    The Genetic Institute, Ha Emek Medical Center, Afula, Israel
    Int Arch Allergy Immunol 143:190-3. 2007
    ....
  74. ncbi request reprint What syndrome is this? Bazex-Dupre-Christol syndrome
    Antonio Torrelo
    Department of Dermatology, Hospiatal del Niño Jesús, Madrid, Spain
    Pediatr Dermatol 23:286-90. 2006
  75. ncbi request reprint Melanomas in prepubescent children: review comprehensively, critique historically, criteria diagnostically, and course biologically
    Reuven Bergman
    Am J Dermatopathol 25:502; author reply 502. 2003
  76. ncbi request reprint Major differences in inflammatory dendritic cells and their products distinguish atopic dermatitis from psoriasis
    Emma Guttman-Yassky
    Laboratory for Investigative Dermatology, Rockefeller University, New York, NY 10021, USA
    J Allergy Clin Immunol 119:1210-7. 2007
    ..Both diseases have been associated with increased numbers of dendritic cells (DCs) in the skin, but the similarities and differences in DC populations need to be established...
  77. ncbi request reprint Identification of mutations in the human hairless gene in two new families with congenital atrichia
    Regina C Betz
    Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, Bonn, Germany
    Arch Dermatol Res 299:157-61. 2007
    ..Our study emphasizes the importance of sequencing the complete coding sequence and exon/intron junctions in the molecular diagnostics of AUC and APL...
  78. ncbi request reprint A novel recessive missense mutation in KRT14 reveals striking phenotypic heterogeneity in epidermolysis bullosa simplex
    Margarita Indelman
    J Invest Dermatol 124:272-4. 2005
  79. ncbi request reprint Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
    Yaacov Frishberg
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    J Mol Med (Berl) 83:33-8. 2005
    ..The heterogeneous phenotypic expression of the identified splice site mutation implies the existence of inherited or epigenetic modifying factors of importance in the regulation of ppGalNAc-T3 activity...
  80. ncbi request reprint Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families
    Aoi Nakano
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA
    J Am Acad Dermatol 46:510-6. 2002
    ..This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored...
  81. ncbi request reprint Relationship between human herpesvirus 8 loads and disease stage in classic Kaposi sarcoma patients
    Emma Guttman-Yassky
    The Mina and Everard Goodman Faculty of Life Sciences, Bar Ilan University, Ramat Gan 52900, Israel
    Diagn Microbiol Infect Dis 57:387-92. 2007
    ..We conclude that the measurements of HHV-8 load in PBMCs provide a limited correlation with the clinical stage of KS...
  82. ncbi request reprint Reply to ultrastructural study of the clinically uninvolved skin in familial tumoral calcinosis caused by mutations in GALNT3
    Reuven Bergman
    Am J Dermatopathol 28:372-3. 2006
  83. ncbi request reprint Classic Kaposi sarcoma. Which KSHV-seropositive individuals are at risk?
    Emma Guttman-Yassky
    Faculty of Life Sciences, Bar Ilan University, Ramat Gan, Israel
    Cancer 106:413-9. 2006
    ..The cofactors that influence risk of KS among HIV-uninfected individuals are yet to be determined. The objective of the current study was to assess potential risk factors for CKS in the KSHV-infected Jewish population in Israel...