Publications by authors named "Benoît Catteau"

19 Publications

  • Page 1 of 1

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.

Genet Med 2021 Apr 8. Epub 2021 Apr 8.

INSERM UMR1231, Bourgogne Franche-Comté University, Dijon, France.

Purpose: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI.

Methods: From two cohorts totaling 71 patients with pigmentary mosaicism, we identified 14 patients with Blaschko-linear and one with flag-like pigmentation abnormalities, psychomotor impairment or seizures, and a postzygotic MTOR variant in skin. Patient records, including brain magnetic resonance image (MRI) were reviewed. Immunostaining (n = 3) for melanocyte markers and ultrastructural studies (n = 2) were performed on skin biopsies.

Results: MTOR variants were present in skin, but absent from blood in half of cases. In a patient (p.[Glu2419Lys] variant), phosphorylation of p70S6K was constitutively increased. In hypopigmented skin of two patients, we found a decrease in stage 4 melanosomes in melanocytes and keratinocytes. Most patients (80%) had macrocephaly or (hemi)megalencephaly on MRI.

Conclusion: MTOR-related HI is a recognizable neurocutaneous phenotype of patterned dyspigmentation, epilepsy, intellectual deficiency, and brain overgrowth, and a distinct subtype of hypomelanosis related to somatic mosaicism. Hypopigmentation may be due to a defect in melanogenesis, through mTORC1 activation, similar to hypochromic patches in tuberous sclerosis complex.
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http://dx.doi.org/10.1038/s41436-021-01161-6DOI Listing
April 2021

Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.

J Rehabil Med 2016 Oct;48(9):833-835

Médecine Physique et de Réadaptation, University hospital, FR-59000 Lille, France.

Objective: Dystrophic epidermolysis bullosa is a rare disease characterized by widespread blistering of the skin and mucous membranes, which may ultimately prompt limb amputation. In this context, the outcome of fitting a prosthesis to a chronically wounded stump is not well known. Our patient's experience (with 15 years of follow-up) should contribute to better knowledge of this topic.

Case Report: A 37-year-old man presented with severe dystrophic epidermolysis bullosa. Recurrent skin carcinoma had led to an amputation below the knee. Despite incessant development of blisters on the stump and the need for wound dressing and padding, the patient has been able to walk freely with a prosthesis and a cane. A large number of skin sarcomas were excised over the 15-year period of prosthesis use. Two falls have resulted in limb fractures. A new sarcoma on the stump marked the end of the use of the prosthesis.

Discussion: Despite the constant presence of wounds on the stump, amputees with dystrophic epidermolysis bullosa can successfully be fitted with a prosthesis.
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http://dx.doi.org/10.2340/16501977-2125DOI Listing
October 2016

Skin Patterns Associated with Upper Airway Infantile Haemangiomas: A Retrospective Multicentre Study.

Acta Derm Venereol 2016 Nov;96(7):963-966

Department of Dermatology, CHU Larrey, 24 chemin de Pourvourville, FR-31059 Toulouse, France.

The aim of this study was to define the skin patterns at high risk for upper airway infantile haemangioma. A retrospective multicentre French observational study was conducted between January 2006 and January 2015 and all confirmed airway haemangioma were included. Thirty-eight patients with airway haemangioma from 9 centres were included. Thirty-one patients had a cutaneous or mucosal haemangioma: 21 with a location considered at high risk for airway haemangioma (large segmental mandibular haemangioma), 4 with a very mild facial involvement (lower lip or S1 (frontotemporal segment according to Haggstrom and Frieden)) and 6 with either lesions of the neck or body, or association of both. We report here the largest cohort of airway haemangioma. A third of patients do not completely fit with the definition of the high-risk area of airway haemangioma. Segmental lower lip and neck involvement also seem to be very suggestive areas. Clinicians must be able to recognize these areas.
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http://dx.doi.org/10.2340/00015555-2357DOI Listing
November 2016

Postvaccinal, corticosteroid-resistant bullous pemphigoid in infancy: treatment with intravenous immunoglobulin.

Pediatr Dermatol 2014 Jul-Aug;31(4):e94-5. Epub 2014 Jun 11.

Department of Pediatrics, Victor Provo Hospital, Roubaix, France.

Bullous pemphigoid is an autoimmune subepidermal blistering disorder that typically affects elderly adults but can also occur in childhood. We report on a 3-month-old boy who developed bullous pemphigoid 1 week after the second routine administration of a hexavalent vaccine. The disease was resistant to standard therapies (including oral and topical corticosteroids) but was relieved by intravenous immunoglobulin treatment. There was no recurrence of bullous pemphigoid after the next vaccination (3 mos after discontinuation of steroids).
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http://dx.doi.org/10.1111/pde.12360DOI Listing
May 2015

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

Hum Mutat 2013 Apr 8;34(4):587-94. Epub 2013 Mar 8.

Institut fuer Humangenetik, Philipps-Universitaet, Marburg, Germany.

Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, with keratosis follicularis spinulosa decalvans, and Olmsted syndrome. This metalloprotease activates, by intramembranous trimming in conjunction with the protease MBTPS1, regulatory factors involved in sterol control of transcription and in cellular stress response. In this study, 11 different MBTPS2 missense mutations detected in patients from 13 unrelated families were correlated with the clinical phenotype, with their effect on cellular growth in media without lipids, and their potential role for sterol control of transcription. Seven variants were novel [c.774C>G (p.I258M); c.758G>C (p.G253A); c.686T>C (p.F229S); c.1427T>C (p.L476S); c.1430A>T (p.D477V); c.1499G>A (p.G500D); c.1538T>C (p.L513P)], four had previously been reported in unrelated sibships [c.261G>A (p.M87I); c.1286G>A (p.R429H); c.1424T>C (p.F475S); c.1523A>G (p.N508S)]. In the enzyme, the mutations cluster in transmembrane domains. Amino-acid exchanges near the active site are more detrimental to functionality of the enzyme and, clinically, associated with more severe phenotypes. In male patients, a genotype-phenotype correlation begins to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome with or without BRESHECK syndrome, keratosis follicularis spinulosa decalvans, X-linked, Olmsted syndrome, or possibly further X-linked traits with an oculocutaneous component.
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http://dx.doi.org/10.1002/humu.22275DOI Listing
April 2013

The lung is involved in juvenile dermatomyositis.

Pediatr Pulmonol 2013 Oct 31;48(10):1016-25. Epub 2012 Dec 31.

Unité de Pneumologie et Allergologie, Pôle de Pédiatrie, Centre de Compétence des Maladies Respiratoires Rares de L'enfant, Hôpital Jeanne de Flandre et Université Lille 2, CHRU de Lille, Lille, France; Service de Pédiatrie, Pavillon Médico-Chirurgical de Pédiatrie, Hôpital Victor Provo, 59056 Roubaix Cedex 1, France.

Background: Juvenile dermatomyositis (JDM) is the main cause of chronic idiopathic inflammatory myopathy of autoimmune origin in children. The aim of this multicenter prospective study was to describe respiratory status and treatment of children followed for JDM.

Methods And Patients: Clinical manifestations, pulmonary function tests (PFT), chest high-resolution computed tomography (HRCT) scan results, and treatments and their adverse effects were analyzed in children followed for JDM.

Results: Twenty-one patients (median age: 9.9 years; range: 20 months-18 years) were included. The median of disease duration at the time of the analysis was 3 years (range: 6 months-9 years 4 months). Overall 16 (76%) of 21 children presented with a respiratory involvement related to JDM including interstitial lung disease (n = 3) and/or respiratory muscle involvement (n = 7). Seven patients presented with other nonspecific manifestations. Three children had aspiration pneumonia. A chest HRCT was performed in 15 children, and abnormalities were observed in 12. PFT were performed in 20 of 21 patients. Seven showed functional abnormalities: restrictive ventilatory defect (n = 3) or obstructive ventilatory defect (n = 4). Six patients had abnormal respiratory muscle tests, including three with a restrictive ventilatory defect and one with an obstructive ventilatory defect. One other child with an acute aspiration pneumonia had a clearly muscle respiratory involvement but was too young to perform respiratory muscle tests and confirm this diagnosis. Treatment comprised systemic corticosteroid for all patients and adjuvant immunosuppressive therapy for 11. Adverse effects linked to treatment were reported in eight patients.

Conclusion: The frequency of lung involvement in children with JDM justifies systematic respiratory assessment with PFT including measures of respiratory muscle strength. We suggest that a chest HRCT scan is indicated in cases of respiratory symptoms and/or PFT abnormalities. Longitudinal studies are needed to assess pediatric characteristics, long-term outcomes, and responses to treatment taking into account the risk-benefit ratio.
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http://dx.doi.org/10.1002/ppul.22742DOI Listing
October 2013

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

Eur J Med Genet 2012 Jan 18;55(1):8-11. Epub 2011 Aug 18.

Centre de Génétique Humaine, CHU Besançon, France.

Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia, gingivitis, nail dystrophy, palmoplantar keratoderma and pachyonychia of the great toenails. Previously undetected and silent neutropenia was evidenced after C16orf57 molecular analysis. Neutropenia was absent in the C16orf57-negative patients. This report confirms that neutrophil count should be performed in all patients with poikiloderma to target the C16orf57 gene sequencing analysis, prior to RECQL4 analysis.
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http://dx.doi.org/10.1016/j.ejmg.2011.07.004DOI Listing
January 2012

Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.

J Invest Dermatol 2010 Mar 29;130(3):804-15. Epub 2009 Oct 29.

Service de Dermatologie, Hôpital Necker, CEREMAST, Centre de Référence des Mastocytoses, Faculté Necker, Université René Descartes Paris V, Paris, France.

Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT.
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http://dx.doi.org/10.1038/jid.2009.281DOI Listing
March 2010

Neurocutaneous melanosis and the Dandy-Walker complex: an uncommon but not so insignificant association.

Childs Nerv Syst 2009 Dec 27;25(12):1533-9. Epub 2009 Aug 27.

Department of Pediatric Neurosurgery, Hôpital Roger Salengro, Centre Hospitalier Régional et Universitaire de Lille, Lille, France.

Background: Neurocutaneous melanosis represents a rare congenital but nonheritable phakomatosis defined as the association of giant or multiple congenital nonmalignant melanocytic nevi with leptomeningeal melanosis or melanoma of the central nervous system.

Methods: We describe the case of an adolescent with a giant congenital bathing trunk melanocytic nevus who developed progressive intracranial hypertension due to leptomeningeal melanosis confirmed by surgical biopsy. Brain and spine magnetic resonance images showed posterior fossa malformation compatible with the Dandy-Walker complex, hydrocephalus, and extensive enhancement of posterior fossa then spine. Shunt placement, corticotherapy, and chemotherapy were attempted leading to transient relief but the boy died 12 months after the onset of primary neurological symptoms.

Discussion: We discuss diagnosis, pathogenesis, management, and prognosis in the light of data from the recent literature.

Conclusion: Neurocutaneous melanosis is considered to follow from neurulation disorders which could account for associated developmental malformations as the so-called Dandy-Walker complex. Cutaneous lesions are usually recognized at birth whereas neurological manifestations develop later. Numerous neurological symptoms have been reported according to extent of leptomeningeal and parenchymal infiltration. Whether magnetic resonance imaging of the neuroaxis represents the choice radiological exam, definite diagnosis relies upon the histological data obtained by mean of biopsy. Once symptomatic, surgical and medical measures remain palliative since death occurs within 3 years.
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http://dx.doi.org/10.1007/s00381-009-0976-6DOI Listing
December 2009

Imatinib mesylate as salvage therapy for refractory sclerotic chronic graft-versus-host disease.

Blood 2009 Jul 16;114(3):719-22. Epub 2009 Mar 16.

Service des Maladies du Sang, Centre Hospitalier Regional Universitaire de Lille, Lille Cedex, France.

Imatinib is a promising candidate for the treatment of fibrotic diseases. This retrospective study evaluated the use of imatinib for the treatment of refractory sclerotic chronic graft-versus-host disease in 14 patients with different hematologic malignancies. Imatinib was started at a median of 44 months after transplantation (range, 16-119 months after transplantation) and was administered for a median of 5.9 months from time of initiation (range, 2.1-74 months from time of initiation). With a median overall follow-up of 11.6 months from time of initiation (range, 4.1-74 months from time of initiation) of imatinib, 4 patients (29%) had to stop imatinib because of drug intolerance. All other adverse reactions were of mild-to-moderate grade and could be managed symptomatically. Overall, 7 patients responded to imatinib (50%; 95% confidence interval, 24%-76%) with 4 patients improving their Rodman score more than or equal to 90%. In addition, imatinib therapy allowed for a significant reduction of corticosteroid dosage. Despite its limited size, this cohort suggests some beneficial activity of imatinib in sclerotic chronic graft-versus-host disease, warranting further prospective investigations.
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http://dx.doi.org/10.1182/blood-2009-02-204750DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5162701PMC
July 2009

Bacterial skin infections in children hospitalized with varicella: a possible negative impact of non-steroidal anti-inflammatory drugs?

Acta Derm Venereol 2008 ;88(1):26-30

Unit of Paediatric Emergency and Infectious Diseases, Jeanne de Flandre University Hospital, Lille-2 University, Avenue E. Avinée, Lille cedex, France.

This 1-year multicentre prospective study in northern France sought to evaluate the incidence of secondary bacterial skin complications related to varicella, describe these superinfections, and analyse risk factors for their onset. The study included every child admitted to a district paediatric unit with a varicella infection. Patients with varicella infection, with and without secondary bacterial skin complication, were compared. The study included 159 children, 43 of whom had a secondary bacterial skin complication on admission, 21 of them had a severe secondary bacterial skin complication (respective incidence: 7.5 and 3.7/100,000 children younger than 16 years old). Persistence or recurrence of fever > or =38.5 degrees C for > or =3 days after the beginning of varicella infection (adjusted odds ratio (aOR)=8.1; 95% confidence interval (CI): 2.3-28.4) and the use of non-steroidal anti-inflammatory drugs (aOR=4.8; 95% CI: 1.6-14.4) were independent factors associated with severe secondary bacterial skin complication.
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http://dx.doi.org/10.2340/00015555-0333DOI Listing
June 2008

Childhood pustular psoriasis associated with Panton-Valentine leukocidin-producing Staphylococcus aureus.

Pediatr Dermatol 2007 Jul-Aug;24(4):401-4

Department of Paediatrics, Victor Provo Hospital, Roubaix, France.

We report the association of a generalized pustular psoriasis and infection by Staphylococcus aureus which produced Panton-Valentine leukocidin in a 5-year-old child. Another S. aureus strain with the same toxin gene content was also isolated among three family members presenting with cutaneous lesions. Although a methicillin-resistant staphylococcal strain has been reported in association with pustular psoriasis, this is the first report of a Panton-Valentine leukocidin strain associated with generalized pustular psoriasis. The causal relationship between S. aureus produced Panton-Valentine leukocidin and skin lesions is discussed.
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http://dx.doi.org/10.1111/j.1525-1470.2007.00459.xDOI Listing
November 2007

Conversion to sirolimus: a useful strategy for recalcitrant cutaneous viral warts in liver transplant recipient.

Liver Transpl 2006 Dec;12(12):1883-7

Service des Maladies de l'Appareil Digestif et de la Nutrition, Lille, France.

Dermatological complications following transplantation are very common and the majority of immunosuppressed transplant recipients develop some to many warts due to human papillomavirus (HPV) infection. In the setting of immunosuppression, therapeutic management may be disappointing because of the extent of the lesions in patients unable to develop a sufficient immune response directed against HPV. We report here a case of a young liver transplant recipient who developed diffuse recalcitrant HPV-induced warts leading to an impairment of her quality of life. Taking into account the antiproliferative and cytostatic properties of the target-of-rapamycin (TOR) inhibitors, a new class of immunosuppressive drug, we significantly modified the immunosuppressive regimen. Conversion to sirolimus was followed by a rapid improvement of cutaneous state suggesting that this strategy may be useful for recalcitrant cutaneous viral warts in transplant recipient.
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http://dx.doi.org/10.1002/lt.20927DOI Listing
December 2006

Paediatric skin disorders encountered in an emergency hospital facility: a prospective study.

Acta Derm Venereol 2004 ;84(6):451-4

Paediatric Emergency Care Unit, University Children's Hospital and School of Medicine, Lille, France.

To determine the frequency of skin disorders encountered in a paediatric emergency care unit and to evaluate the benefits of advice from a dermatologist, we prospectively recorded data of children admitted with skin disorders to the emergency care unit during a 5-month period. Diagnostic agreement between paediatricians and dermatologists evaluating the patients separately was assessed. Three hundred and ninety-five children (median age 3 years; interquartile 1-6) were included. Skin disorders represented 4% of all paediatric emergency care unit visits. Visits were considered as appropriate in 19-30% of cases according to different criteria. Six diseases accounted for 57% of cases: viral exanthema, urticaria, atopic dermatitis, varicella, diaper dermatitis and herpetic gingivostomatitis. The dermatologist modified the diagnosis in 42% of cases and the treatment in 30%. Greater emphasis on teaching the skin disorders encountered in this setting and efforts to provide easy access to advice from dermatologist would improve the quality of care.
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http://dx.doi.org/10.1080/00015550410021448DOI Listing
June 2005

Successful outcome of disseminated Fusarium infection with skin localization treated with voriconazole and amphotericin B-lipid complex in a patient with acute leukemia.

J Clin Microbiol 2003 Oct;41(10):4898-900

Parasitologie-Mycologie, Faculté de Médecine, CHRU de Lille, Lille, France.

A disseminated Fusarium oxysporum infection with skin localization was diagnosed in a woman with a relapse of B-acute leukemia during induction chemotherapy. The infection was refractory to amphotericin B-lipid complex alone but responded successfully when voriconazole was added.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC254322PMC
http://dx.doi.org/10.1128/jcm.41.10.4898-4900.2003DOI Listing
October 2003

Congenital elephantiasis-like lymphangiomatosis of a lower limb.

Acta Derm Venereol 2003 ;83(1):40-3

Services de Dermatologie, Centre Hospitalier Universitaire de Lille, France.

The case of a newborn girl with a rare, giant, congenital, tissue lymphangioma giving rise to elephantiasis of the right lower limb is presented. The different imaging methods, especially magnetic resonance imaging, showed no extension of the lesions into the deep structures. At the age of 2 years, the child underwent a roentgenographic skeletal survey, which revealed osteolytic lesions in the femurs and the right tibia. There was no clinical evidence of systemic involvement. The place of this affection among the different lymphatic malformations was discussed and the diagnosis of elephantiasis-like lymphangiomatosis of the limb, an extremely rare disorder, has been retained. Early surgical reduction was performed, followed by application of a pressure dressing. Five years later the result remains satisfactory, but the excision of a persistent fluid-filled pouch around the knee will probably be necessary in the future.
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http://dx.doi.org/10.1080/00015550310002693DOI Listing
June 2003

Atypical varicella with palm and sole involvement.

Int J Dermatol 2002 Dec;41(12):903-5

Department of Pediatric, Roubaix University Children's Hospital and Faculty of Medicine, Lille, France.

Varicella is a common disease characterized by a typical presentation. We report a case of an atypical presentation of varicella with a centrifugal distribution, eruption with many vesicles, no pustular stage in evolution and distal involvement. There were none of the known modifying factors (immunosuppression, skin disease, injury or sun exposure). To explain the distal involvement we suggest intraepidermic lesions caused by a pre-existing B1 coxsackie infection.
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http://dx.doi.org/10.1046/j.1365-4362.2002.01646_2.xDOI Listing
December 2002