Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chileJ Frank
Department of Dermatology, Columbia University, New York, NY, USA
Hum Hered 51:160-8. 2001
..Our data comprise the first genetic studies of the porphyrias in South America and will streamline the elucidation of the genetic defects in VP patients from Chile by allowing an initial screening for the founder mutation 1239delTACAC...
Porphyria cutanea tarda--when skin meets liverJorge Frank
Department of Dermatology, Euregional Porphyria Center Maastricht, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center MUMC, Maastricht, The Netherlands
Best Pract Res Clin Gastroenterol 24:735-45. 2010
..Here we provide an update on clinical, diagnostic and therapeutic aspects of PCT, a disorder that affects both skin and liver...
- Eruption of lymphocyte recovery or autologous graft-versus-host disease?
Ruud G L Nellen
Department of Dermatology, Maastricht University Medical Center, The Netherlands
Int J Dermatol 47:32-4. 2008
..Based on these data we would like to suggest that the latter two do not reflect own disease entities but rather different presentations of autologous GVHD...
- Coincidence of cutaneous follicle center lymphoma and diffuse large B-cell lymphoma
Anne Moon van Tuyll van Serooskerken
Department of Dermatology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:21-4. 2008
..Six months later, however, he developed a diffuse large B-cell non-Hodgkin lymphoma localized in several lymph nodes of the neck that most likely reflects the occurrence of a second primary tumor in the same patient...
- Mutations in the translation initiation codon of the protoporphyrinogen oxidase gene underlie variegate porphyria
J Frank
Department of Dermatology, Columbia University, New York, New York 10032, USA
Clin Exp Dermatol 24:296-301. 1999
..These mutations abolish the initiation of translation at the normal site, and consequently, translation of an abnormal messenger RNA (mRNA) would result in the synthesis of a truncated PPO protein lacking the amino terminus...
- Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes
Eugene A de Zwart-Storm
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
Exp Dermatol 20:408-12. 2011
..However, the differences between the phenotypes we observed cannot be readily explained from effects on protein trafficking or gap junction permeability...
- Hyperkeratosis lenticularis perstans (Flegel's disease) - successful treatment with topical corticosteroids
Heleen Sterneberg-Vos
Department of Dermatology, and Maastricht University Center for Molecular Dermatology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:38-41. 2008
..Treatment is difficult and rarely fully effective. We report on a woman with Flegel's disease who responded to a topical corticosteroid therapy with betamethasone dipropionate...
- 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...
- Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer
Sadhanna Badeloe
Maastricht University Center for Molecular Dermatology, Department of Dermatology, University Medical Center Maastricht, Maastricht, The Netherlands
Int J Dermatol 47:18-20. 2008
..Although the familial occurrence of these rare tumors might be coincidental, it cannot be ruled out that, beside FH, mutations in another as yet unknown gene could give rise to both leiomyosarcoma and kidney cancer...
- The genetic basis of "Scarsdale Gourmet Diet" variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene
J Frank
Department of Dermatology, Columbia University, College of Physicians and Surgeons, New York, NY 10032, USA
Arch Dermatol Res 290:441-5. 1998
..Our study established that a missense mutation in the PPO gene was the underlying mutation in this patient with VP and explained the occurrence of the phenotype in this family...
- Basal cell carcinoma and trichoepithelioma: a possible matter of confusion
Aimee H M M Arits
Department of Dermatology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:13-7. 2008
..By means of two real life cases, we give here an overview of the possible problems and appliances in distinguishing these two entities; at the end we do some recommendation about the policy...
- Penile pyoderma gangrenosum: successful treatment with colchicine
Lizelotte J M T Parren
Department of Dermatology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:7-9. 2008
..To date, a specific treatment is not known. Since the disease can be destructive, aggressive treatment is preferable. Here, we present a patient with a penile pyoderma gangrenosum who was successfully treated with low-dose colchicine...
- T-cell large granular lymphocytic leukaemia with an uncommon clinical and immunological phenotype
Maurice A M van Steensel
Department of Dermatology, Maastricht University Medical Center, The Netherlands
Acta Derm Venereol 89:172-4. 2009
..In this particular patient, however, it was instrumental in establishing the diagnosis and may have been enabled by the expression of cutaneous lymphocyte-associated antigen on the cell surface...
- Brooke-Spiegler syndrome complicated by unilateral hearing loss
Lizelotte J M T Parren
Department of Dermatology, Maastricht University Center for Molecular Dermatology, and GROW School for Oncology and Developmental Biology, University Hospital Maastricht, The Netherlands
Int J Dermatol 47:56-9. 2008
..One of these neoplasms arose in the meatus externus of the right ear leading to unilateral hearing loss, a complication that has been documented only on few occasions in this disease...
- Tophi as first clinical sign of gout
Carleine A C B Thissen
Department of Dermatology, University Medical Center Maastricht, and Department of Dermatology, Atrium Medical Center, Heerlen, The Netherlands
Int J Dermatol 47:49-51. 2008
..Here, we report on an 85-year-old woman who was diagnosed with tophaceous gout devoid of a prior medical history of the disease...
- Generalized pustulosis induced by adalimumab in a patient with rheumatoid arthritis - a therapeutic challenge
Martina Kucharekova
Department of Dermatology, Maastricht University Center for Molecular Dermatology, and GROW School for Oncology and Developmental Biology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:25-8. 2008
..To the best of our knowledge, this is the first report on a generalized, therapy-resistant pustulosis as an adverse effect of adalimumab...
- Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma
Roeland P M Ceulen
Department of Dermatology, University Hospital Maastricht, P Debyelaan 25 PO box 5800, 6202 AZ Maastricht, The Netherlands
Eur J Dermatol 18:285-8. 2008
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- Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria
Anne Moniek van Tuyll van Serooskerken
Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
J Invest Dermatol 131:2249-54. 2011
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- Superficial thrombophlebitis of the venous dorsal arch of the foot and deep venous thrombosis after foam sclerotherapy
Nadia Shadid
Department of Dermatology, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:29-31. 2008
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- Lymphedema in Prader-Willi syndrome
Martijn V Heitink
Department of Dermatology, Maastricht University Center for Molecular Dermatology, GROW School for Oncology and Developmental Biology, and Governor Kremers Center, University Medical Center Maastricht, The Netherlands
Int J Dermatol 47:42-4. 2008
..After edema reduction, elastic compressive stockings were fit. To the best of our knowledge, this is the first report on primary lymphedema in a patient with Prader-Willi syndrome, an association that is probably often missed...
- Porphyria cutanea tarda in pre-existent lupus erythematosus--is there an association?
Anne Moon van Tuyll van Serooskerken
Department of Dermatology and Euregional Porphyria Center Maastricht Aachen EPCMA, University Hospital Maastricht, Maastricht, The Netherlands
Int J Dermatol 46:50-2. 2007
..Subsequent porphyrin analysis in urine and feces confirmed the suspected simultaneous manifestation of LE and PCT...
- Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene
P Poblete-Gutierrez
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
Physiol Res 55:S137-44. 2006
..Further, our findings largely exclude the possibility that a hitherto unknown gene is involved in the pathogenesis of the porphyrias...
- A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America
P Poblete-Gutierrez
Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
Br J Dermatol 154:368-71. 2006
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- Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria
T Wiederholt
Department of Dermatology, University Hospital Maastricht, The Netherlands
Physiol Res 55:S85-92. 2006
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