M A M van Steensel

Summary

Affiliation: University Hospital Maastricht
Country: The Netherlands

Publications

  1. ncbi Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 143:2448-51. 2007
  2. ncbi Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 143:1223-6. 2007
  3. doi A case of Lelis syndrome with hystrix-like ichthyosis
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 146:2155-8. 2008
  4. ncbi Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    J Invest Dermatol 127:588-93. 2007
  5. ncbi Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 15:731-4. 2006
  6. ncbi Further delineation of the hypotrichosis-deafness syndrome
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Eur J Dermatol 15:437-8. 2005
  7. ncbi Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 139:127-30. 2005
  8. doi Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
    Maurice A M van Steensel
    Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 18:185-91. 2009
  9. pmc A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    J Med Genet 42:e19. 2005
  10. ncbi A new type of erythrokeratoderma
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 152:155-8. 2005

Collaborators

Detail Information

Publications36

  1. ncbi Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 143:2448-51. 2007
    ..Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema...
  2. ncbi Two Dutch brothers with Borrone dermato-cardio-skeletal syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 143:1223-6. 2007
    ..Since then, no further cases have been reported. Here, we report on two Dutch brothers with many features suggestive of this rare syndrome...
  3. doi A case of Lelis syndrome with hystrix-like ichthyosis
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 146:2155-8. 2008
  4. ncbi Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    J Invest Dermatol 127:588-93. 2007
    ..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life...
  5. ncbi Recurring HRAS mutation G12S in Dutch patients with Costello syndrome
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 15:731-4. 2006
    ..To our knowledge, our patients are the first Dutch to be analysed. The syndrome seems to be genetically homogeneous. We discuss the pertinent nosology of the syndrome...
  6. ncbi Further delineation of the hypotrichosis-deafness syndrome
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Eur J Dermatol 15:437-8. 2005
    ....
  7. ncbi Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 139:127-30. 2005
    ..Here, we report on a 16-year-old female with Myhre syndrome. She has vertebral defects, hypertrophic scar formation, and a stiff skin in addition to the features that have previously been reported in association with Myhre syndrome...
  8. doi Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
    Maurice A M van Steensel
    Department of Dermatology, University Medical Centre Maastricht, University Hospital Maastricht, Maastricht, The Netherlands
    Exp Dermatol 18:185-91. 2009
    ..Here, we delineate how mTOR can link the various signalling pathways, thereby proposing a unifying model for hair follicle tumor formation...
  9. pmc A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    J Med Genet 42:e19. 2005
  10. ncbi A new type of erythrokeratoderma
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 152:155-8. 2005
    ..Hence we propose that we have delineated a novel type of keratoderma...
  11. ncbi A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 132:171-4. 2005
    ..This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C-terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms...
  12. ncbi Gap junction diseases of the skin
    M A M van Steensel
    Dermatology Department, University Hospital Maastricht, The Netherlands
    Am J Med Genet C Semin Med Genet 131:12-9. 2004
    ..What is known about the pathogenesis of these disorders is discussed and related to gap junction physiology...
  13. ncbi Molecular genetics of hereditary hair and nail disease
    M A M van Steensel
    Dermatology Department, University Hospital Maastricht, The Netherlands
    Am J Med Genet C Semin Med Genet 131:52-60. 2004
    ..In this review, recent results from studies of syndrome affecting hair and nail development will be discussed...
  14. ncbi A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation
    Maurice A M van Steensel
    Department of Dermatology, University Medical Centre Nijmegen, The Netherlands
    J Invest Dermatol 123:291-3. 2004
    ..Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease...
  15. ncbi Why minocycline can cause systemic lupus - a hypothesis and suggestions for therapeutic interventions based on it
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Med Hypotheses 63:31-4. 2004
    ..Such treatments can be tested in apoptosis-deficient mice that develop autoimmune disease...
  16. ncbi Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
    Maurice A M van Steensel
    Department of Dermatology, University of Maastricht, Maastricht, The Netherlands
    Exp Dermatol 17:362-5. 2008
    ..It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF-beta signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS...
  17. ncbi Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43
    M Vreeburg
    Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 143:360-3. 2007
    ..Thus, our findings support the notion that such mutations are associated with the occurrence of skin symptoms in ODDD and provide the first evidence for the existence of a genotype-phenotype correlation...
  18. doi A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis
    M C Bolling
    Department of Dermatology, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands
    Br J Dermatol 162:875-9. 2010
    ..A novel heterozygous missense mutation in the linker L12 domain of KRT1:c.1019A>G, p.Asp340Gly was found associated with this phenotype in these families...
  19. ncbi HID and KID syndromes are associated with the same connexin 26 mutation
    M van Geel
    Department of Dermatology, University Hospital Nijmegen, The Netherlands
    Br J Dermatol 146:938-42. 2002
    ..These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related...
  20. doi The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron
    M A M van Steensel
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Am J Med Genet A 149:657-61. 2009
    ..Apparently, the same GJB4 mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands...
  21. doi Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype
    I F Nagtzaam
    Department of Dermatology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 163:205-7. 2010
    ..Although the two conditions cannot always be easily distinguished, we would suggest that paucity of bile ducts could be a manifestation of NISCh...
  22. doi Novel missense mutations in the FOXC2 gene alter transcriptional activity
    M A M van Steensel
    Departments of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Hum Mutat 30:E1002-9. 2009
    ..One would expect that in this case, lymphatic hypoplasia would be the underlying abnormality. Patients with activating mutations might present with Meige disease...
  23. doi A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome
    E A de Zwart-Storm
    Department of Dermatology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 164:197-9. 2011
    ..How the different mutations in GJB2 lead to such distinctive phenotypes is poorly understood. Analysis of new GJB2 mutations can shed new light on pathogenesis and the apparently vital role of Cx26 in maintaining epidermal integrity...
  24. ncbi New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C
    M A M van Steensel
    Department of Dermatology, University Medical Centre St Radboud Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Br J Dermatol 147:575-81. 2002
    ..We propose that our patients suffer from a new syndrome possibly caused by mutations in a gene that has a functional or structural relation with CTSC...
  25. doi Genodermatoses caused by genetic mosaicism
    M Vreeburg
    Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands
    Eur J Pediatr 171:1725-35. 2012
    ..Moreover, recent developments are now resulting in novel, targeted treatments for such disorders that promise to considerably improve patients' lives...
  26. doi Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation
    M A M van Steensel
    Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
    Am J Med Genet A 146:2944-9. 2008
    ..Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype...
  27. doi Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion
    M Vreeburg
    Department of Clinical Genetics Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    J Eur Acad Dermatol Venereol 25:592-5. 2011
    ..Approximately 90% of patients are women. A few instances of father-to-daughter transmission and a number of sporadic male cases presumably as a result of somatic mosaicism have been recorded...
  28. ncbi Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome
    P M Steijlen
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Br J Dermatol 157:1225-9. 2007
    ..302960] is an X-linked dominant disorder of cholesterol metabolism that causes a wide spectrum of skeletal abnormalities and linear ichthyosiform skin lesions. Mosaicism is probably responsible for the variability of the phenotype...
  29. ncbi [From gene to disease; cutaneous leiomyomatosis]
    S Badeloe
    afd Dermatologie, Academisch Ziekenhuis Maastricht, Postbus 5800, 6202 AZ Maastricht
    Ned Tijdschr Geneeskd 151:300-4. 2007
    ..This syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). Both disorders result from heterozygous germline mutations in the fumarate hydratase (FH) gene...
  30. ncbi The nuclear envelope, a key structure in cellular integrity and gene expression
    V L R M Verstraeten
    Department of Dermatology, University Hospital Maastricht, P Debyelaan 25, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Curr Med Chem 14:1231-48. 2007
    ..elegans. In this review, we elaborate on the structure and functions of nuclear lamins, the spectrum of syndromes related to mutations in nuclear envelope components and pathogenic concepts unifying these disorders...
  31. doi Erysipelas as a sign of subclinical primary lymphoedema: a prospective quantitative scintigraphic study of 40 patients with unilateral erysipelas of the leg
    R J Damstra
    Department of Dermatology, Phlebology and Lymphology, Nij Smellinghe Hospital, 9202 NN Drachen, The Netherlands
    Br J Dermatol 158:1210-5. 2008
    ..The persistent swelling after erysipelas is then most likely caused by lymphoedema...
  32. ncbi Recessive palmoplantar keratodermas: a tale of wings, hands, hair and cancer
    M A M van Steensel
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    G Ital Dermatol Venereol 145:763-70. 2010
    ..In this review, I outline how WNT signalling is involved in epidermal differentiation and skin cancer and what these new insights mean for everyday dermatology...
  33. doi Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood
    M Klaassens
    Department of Pediatrics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands
    Clin Genet 82:121-30. 2012
    ..For physicians treating patients with EDS type VII, achieving mobility for the patient is the greatest challenge and it may be impossible because of recurrent dislocations of nearly all joints in severe cases...
  34. ncbi Molecular aetiology and pathogenesis of basal cell carcinoma
    C M L J Tilli
    Research Institute of Growth and Development, Department of Dermatology, University of Masstricht, The Netherlands
    Br J Dermatol 152:1108-24. 2005
    ..Furthermore, established and novel treatment modalities are discussed with particular attention to future biological approaches...
  35. ncbi Emerging drugs for ichthyosis
    M A M van Steensel
    University of Maastricht, Department of Dermatology, University Hospital Maastricht and GROW Research School, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Expert Opin Emerg Drugs 12:647-56. 2007
    ..With these drugs, retinoid effects may be obtained with less side effects and a shorter post-treatment teratogenicity period. This review discusses the RAMBAs that are now in clinical trials and outlines possible future developments...
  36. pmc Factors associated with posttraumatic stress symptoms in a prospective cohort of patients after abdominal sepsis: a nomogram
    Kimberly R Boer
    Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, 1100 DE, PO Box 22700, Amsterdam, The Netherlands
    Intensive Care Med 34:664-74. 2008
    ..To determine to what extent patients who have survived abdominal sepsis suffer from symptoms of posttraumatic stress disorder (PTSD) and depression, and to identify potential risk factors for PTSD symptoms...