Publications by authors named "Stéphanie Mallet"

21 Publications

  • Page 1 of 1

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

Trials 2019 Dec 17;20(1):739. Epub 2019 Dec 17.

INSERM U1246 -SPHERE « MethodS in Patients-centered outcomes and HEalth REsearch », University of Nantes, University of Tours, 37000, Tours, France.

Background: Cutaneous microcystic lymphatic malformations (CMLMs) are rare conditions in children and adults. They present as clusters of vesicles full of lymph and blood to various extents, inducing maceration, esthetic impairment, pain, and impaired quality of life. The treatment is challenging. Sirolimus is an inhibitor of mammalian target of rapamycin (mTOR) involved in angio-lymphangiogenesis. Topical sirolimus has recently been reported as effective in a few reports of patients with CMLMs. The objective is to compare the efficacy and safety of a 12-week application of 0.1% topical sirolimus versus topical vehicle in CMLMs in children and adults.

Methods: This French blinded multicenter within-person randomized controlled phase 2 trial aims to include 55 patients aged ≥ 6 years who have a primary CMLM. The CMLM will be divided into two equal areas that will be randomly allocated to 0.1% topical sirolimus or topical vehicle applied for 12 weeks. At the end of the 12-week period, the patient/parent will treat the whole area of CMLM with 0.1% topical sirolimus on remaining lesions, for eight more weeks. Patients will be seen at week 20 (treatment will be stopped) and at month 12 to evaluate long-term efficacy. The primary outcome will be improvement of the CMLM in the area treated with topical sirolimus compared to the area treated with topical vehicle by the investigator physician (blinded to the treatment) with the Physician Global Assessment score at week 12. Secondary outcomes will include: assessment of efficacy by independent experts on the basis of standardized photographs; impact on quality of life; efficacy for oozing, bleeding, erythema, and thickness evaluated by the investigators; and global efficacy as well as efficacy for functional and aesthetic impairment evaluated by the patient. Systemic passage of sirolimus will be measured at weeks 6, 12, and 20, and at week 16 for CMLMs ≥ 900 cm.

Discussion: For patients with CMLMs, topical sirolimus could be a non-invasive and well-tolerated therapeutic option. If the trial demonstrates efficacy and safety of this treatment, this result will lead to a real change in the management of this condition, and 0.1% sirolimus cream would become the first-line treatment.

Trial Registration: ClinicalTrials.gov, NCT03972592. Registered on 3 June 2019. EU Clinical Trials Register EudraCT, 2018-001359-11.
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http://dx.doi.org/10.1186/s13063-019-3767-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6918625PMC
December 2019

A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia.

J Invest Dermatol 2020 05 1;140(5):1103-1106.e4. Epub 2019 Nov 1.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; Paris Descartes University, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.06.154DOI Listing
May 2020

Evaluation of Children with Psoriasis from the BiPe Cohort: Are Patients Using Biotherapies in Real Life Eligible for Phase III Clinical Studies?

Paediatr Drugs 2019 Jun;21(3):169-175

Service de Dermatologie, Hôpital Victor Dupouy, 69 rue du Lieutenant-Colonel Prud'hon, 95100, Argenteuil, France.

Background: Phase III clinical trials of biotherapies for childhood psoriasis are designed for a selected population, which can differ from real-life patients.

Objective: Our objective was to assess the proportion of children with psoriasis that received biotherapy in the biological treatments for pediatric psoriasis (BiPe) cohort that would be excluded from phase III clinical trials of these treatments.

Methods: Data concerning initiation of the first biotherapy from all patients included in the BiPe cohort were analyzed. Ineligibility was assessed after applying the exclusion criteria used in the principal phase III trials of etanercept, adalimumab, and ustekinumab for childhood psoriasis.

Results: Of the 134 patients included, 73 (54.5%) were ineligible for at least one randomized controlled trial based on one or more exclusion criteria. Amongst the 63 children treated with etanercept, 35 (55.5%) were ineligible: 22 because of the type of psoriasis, 12 because of concomitant treatment, and six because of psoriasis severity based on psoriasis assessment severity index (PASI) and physician global assessment (PGA) scores (PASI < 12 and PGA < 3). Amongst the 44 children treated with adalimumab, 32 (72.7%) were ineligible: 17 because of the clinical type of psoriasis, 12 because of psoriasis severity (PASI < 20 and PGA < 4), and seven because of concomitant treatment. Amongst the 27 children patients treated with ustekinumab, 12 (44.4%) were ineligible: eight because of psoriasis severity (PASI < 12 and PGA < 3), five because of the clinical type of psoriasis, and one because of concomitant treatment. Drug survival and the frequency of serious adverse events did not differ between eligible and ineligible patients.

Conclusion: The majority of children treated with biotherapies in real-life practice differ from those in phase III trials, most commonly because of the clinical type of their psoriasis, the disease severity being lower than required and the use of prior or concomitant psoriasis treatment. Efficacy and safety results from phase III clinical trials in selected populations may not sufficiently reflect what is seen in real life, thus results from real-life cohort studies are necessary.
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http://dx.doi.org/10.1007/s40272-019-00335-9DOI Listing
June 2019

Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma.

Acta Derm Venereol 2019 May;99(6):539-543

Reference Centre of Rare Skin Diseases, Larrey Hospital, Paul Sabatier University, 31400 Toulouse, France.

Methotrexate has demonstrated its efficiency for the treatment of juvenile localized scleroderma but some patients may be resistant. The aim of our study was to define the profile of such patients. We performed an observational retrospective multicenter study between 2007 and 2016 and included all children seen in the French Paediatric Dermatology and Rheumatology departments with active localized scleroderma treated by methotrexate for a minimum of 4 months. Metho-trexate efficacy was assessed clinically and/or by imaging between the fourth to twelfth months of treatment. A total of 57 patients were included. Metho-trexate dosage ranged from 7 to 15 mg/m2/week. Only 4 patients were resistant. No common features could be identified between these 4 patients. Children with localized scleroderma are rarely resistant to metho-trexate and we did not identify a clinical profile for those resistant patients.
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http://dx.doi.org/10.2340/00015555-3155DOI Listing
May 2019

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

Trials 2018 Jun 27;19(1):340. Epub 2018 Jun 27.

University of Tours, University of Nantes, INSERM, SPHERE U1246, Tours, France.

Background: Slow-flow superficial vascular malformations (VMs) are rare congenital anomalies that can be responsible for pain and functional impairment. Currently, we have no guidelines for their management, which can involve physical bandages, sclerotherapy, surgery, anti-inflammatory or anti-coagulation drugs or no treatment. The natural history is progressive and worsening. Mammalian target of rapamycin (mTOR) is a serine/threonine kinase that acts as a master switch in cell proliferation, apoptosis, metabolism and angio/lymphangiogenesis. Sirolimus directly inhibits the mTOR pathway, thereby inhibiting cell proliferation and angio/lymphangiogenesis. Case reports and series have reported successful use of sirolimus in children with different types of vascular anomalies, with heterogeneous outcomes.

Objective: The objective of this trial is to evaluate the efficacy and safety of sirolimus in children with complicated superficial slow-flow VMs.

Methods/design: This French multicenter randomized observational-phase, phase 2 trial aims to include 50 pediatric patients 6 to 18 years old who have slow-flow (lymphatic, venous or lymphatico-venous) voluminous complicated superficial VM. Patients will be followed up for 12 months. All patients will start with an observational period (no treatment). Then at a time randomly selected between month 4 and month 8, they will switch to the experimental period (switch time), when they will receive sirolimus until month 12. Each child will undergo MRI 3 times: at baseline, at the switch time, and at month 12. For both periods (observational and treatment), we will calculate the relative change in volume of the VM divided by the study period duration. This relative change weighted by the study period duration will constitute the primary endpoint. VM will be measured by MRI images, which will be centralized and interpreted by the same radiologist who will be blinded to the study period. Hence, each patient will be his/her own control. Secondary outcomes will include assessment of safety and efficacy by viewing standardized digital photographs and according to the physician, the patient or proxy; impact on quality of life; and evolution of biological makers (coagulation factors, vascular endothelial growth factor, tissue factor).

Discussion: The main benefit of the study will be to resolve uncertainty concerning the efficacy of sirolimus in reducing the volume of VMs and limiting related complications and the safety of the drug in children with slow-flow VMs. This trial design is interesting in these rare conditions because all included patients will have the opportunity to receive the drug and the physician can maintain it after the end of the protocol if is found efficient (which would not be the case in a classical cross-over study).

Trial Registration: ClinicalTrials.gov Identifier: NCT02509468 , first received: 28 July 2015. EU Clinical Trials Register EudraCT Number: 2015-001096-43.
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http://dx.doi.org/10.1186/s13063-018-2725-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020321PMC
June 2018

Epithelial barrier dysfunction in desmoglein-1 deficiency.

J Allergy Clin Immunol 2018 08 27;142(2):702-706.e7. Epub 2018 Apr 27.

Laboratory of Genetics of Monogenic Auto-inflammatory Diseases, Necker Branch, U1163, Necker-Enfants Malades Hospital (AP-HP), Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078820PMC
August 2018

Diabetes and Blood Glucose Disorders Under Anti-PD1.

J Immunother 2018 06;41(5):232-240

Dermatology and Skin Cancer Department, Aix-Marseille University, Hôpital de la Timone.

Acute type 1 diabetes (AD1) is a rare but definitive immune-related adverse event associated with anti-PD1. Most of the reported cases are close to what has been described as "fulminant type 1 diabetes." We sought to determine whether anti-PD1 could impair glycoregulation and whether occurrence of AD1 could be anticipated by prior glycemic changes. Fasting glycemia collected before, under, and after treatment in melanoma patients treated with anti-PD1 over a period of 36 months were retrospectively analyzed. Glycemic trend analyses were performed using linear regression analysis. In total, 1470 glucose values were monitored in 163 patients treated for a mean duration of 5.96 months. Three patients developed an AD1 (1, 84%). Two other cases were observed in the same period in a still-blinded trial of anti-PD1 versus ipilimumab. All cases of AD1 occurred in patients with a normal pretreatment glycemia, and there was no detectable drift of glycemia before ketoacidosis onset. In 4 of 5 cases of AD1, the HLA subgroups were DRB01* 03 or 04, known to increase type 1 diabetes risk in the general population. In the 28 patients with preexisting type 2 diabetes, there was a slight trend for glycemia increase with anti-PD1 infusions (0.05 mmol/L/infusion P=0.004). In the 132 patients with normal pretreatment glycemia, there was a slight trend for a decrease of glycemia with anti-PD1 infusions (-0.012/mmol/L/infusion P=0.026). These data suggest that the monitoring of glycemia under anti-PD1 cannot help to anticipate AD1, and there is no general tendency to glycemic disorder. HLA genotyping before treatment may help to focus surveillance in patients with the HLA DRB1*03/04 group.
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http://dx.doi.org/10.1097/CJI.0000000000000218DOI Listing
June 2018

Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex.

Orphanet J Rare Dis 2017 06 28;12(1):119. Epub 2017 Jun 28.

Reference Centre for Inherited Epidermolysis Bullosa, Archet 2 Hospital, University of Nice Sophia Antipolis, Nice, France.

Background: A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very painful. The aim of the study was to characterize pain in patients with EBS-l and evaluate its impact on quality of life (QoL). Patients were contacted via the Research Group of the French Society of Pediatric Dermatology and the association of EB patients (DEBRA France). One investigator used a standardized questionnaire that included validated scales for pain and QoL for a telephone interview.

Results: We included 57 patients (27 children). All patients had pain: the mean pain on a 10-mm visual analog scale was >5 for most adults (90%) and children ≥8 years old (94%) when blisters were present and for most adults (73%) and about half of the children ≥ age 8 (53%) during dressing changes. Similar results were found for younger patients. Overall, 75% of patients had neuropathic pain; for 55% of children and 73% of adults, the pain had a moderate to severe impact on QOL. Only seven patients used premedication before changing dressings and seven regularly used oral treatment for chronic pain. A total of 21% and 23% of patients used non-steroidal anti-inflammatory drugs and grade 2 analgesics, respectively. These treatments were not effective for neuropathic pain. Six patients tried 5% lidocaine plasters on their feet, with good efficacy.

Conclusions: EBS-l patients have frequent and severe pain with neuropathic characteristics. This pain is undertreated and affects QoL.
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http://dx.doi.org/10.1186/s13023-017-0666-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490235PMC
June 2017

The scalp hair collar and tuft signs: A retrospective multicenter study of 78 patients with a systematic review of the literature.

J Am Acad Dermatol 2017 Mar 11;76(3):478-487. Epub 2016 Oct 11.

Department of Pediatric Dermatology, National Center for Rare Skin Disorders-Institut National de la Santé et de la Recherche Médicale (INSERM) U1035, Bordeaux, France.

Background: Hair collar sign (HCS) and hair tuft of the scalp (HTS) are cutaneous signs of an underlying neuroectodermal defect, but most available data are based on case reports.

Objective: We sought to define the clinical spectrum of HCS and HTS, clarify the risk for underlying neurovascular anomalies, and provide imaging recommendations.

Methods: A 10-year multicenter retrospective and prospective analysis of clinical, radiologic, and histopathologic features of HCS and HTS in pediatric patients was performed.

Results: Of the 78 patients included in the study, 56 underwent cranial and brain imaging. Twenty-three of the 56 patients (41%) had abnormal findings, including the following: (1) cranial/bone defect (30.4%), with direct communication with the central nervous system in 28.6%; (2) venous malformations (25%); or (3) central nervous system abnormalities (12.5%). Meningeal heterotopia in 34.6% (9/26) was the most common neuroectodermal association. Sinus pericranii, paraganglioma, and combined nevus were also identified.

Limitations: The partial retrospective design and predominant recruitment from the dermatology department are limitations of this study.

Conclusions: Infants with HCS or HTS are at high risk for underlying neurovascular anomalies. Magnetic resonance imaging scans should be performed in order to refer the infant to the appropriate specialist for management.
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http://dx.doi.org/10.1016/j.jaad.2016.08.046DOI Listing
March 2017

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

Pigmented macules of bony prominences (PMBP): A distinct presentation in patients with red hair.

J Am Acad Dermatol 2016 Feb;74(2):383-5

Department of Dermatology, Hôpital L'Archet 2, Nice; Department of Pathology, INSERM U1065 Team 12, C3M, Nice. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.08.027DOI Listing
February 2016

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Orphanet J Rare Dis 2015 Oct 15;10:135. Epub 2015 Oct 15.

CHU Nantes, Service de Génétique Médicale, Unité de Génétique Moléculaire, 9 quai Moncousu, 44093, Nantes CEDEX 1, France.

Background: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.

Methods: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected.

Results: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes.

Conclusions: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.
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http://dx.doi.org/10.1186/s13023-015-0352-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608180PMC
October 2015

Autologous adipose-derived stromal vascular fraction in patients with systemic sclerosis: 12-month follow-up.

Rheumatology (Oxford) 2016 Feb 8;55(2):301-6. Epub 2015 Sep 8.

Internal Medicine Department and Vascular Research Center Marseille, INSERM UMRS-1076, Aix-Marseilles University, Marseilles, France

Objective: Impaired hand function greatly contributes to disability and reduced quality of life in SSc patients. Autologous adipose-derived stromal vascular fraction (ADSVF) is recognized as an easily accessible source of regenerative cells. We reported positive 6-month safety and efficacy results from an open-label clinical trial assessing s.c. injection of autologous ADSVF into the fingers in SSc patients. The objective of this report is to describe the effects at 12 months.

Methods: Twelve females, mean age 54.5 years (s.d. 10.3), were assessed 1 year after ADSVF injection. Patients were eligible if they had a Cochin Hand Function Scale score >20/90. ADSVF was obtained from lipoaspirate using an automated processing system and subsequently injected into the s.c. tissue of each finger in contact with neurovascular pedicles in a one-time procedure. Endpoints were changes in hand disability and skin fibrosis, vascular manifestations, pain and quality of life at the 12 month follow-up. During the visit, patients estimated the benefit of the procedure with a specific self-completed questionnaire.

Results: A significant decrease from baseline of 51.3% (P < 0.001) for Cochin Hand Function Scale score, 63.2% (P < 0.001) for RP severity and 46.8% (P = 0.001) for quality of life (Scleroderma Health Assessment Questionnaire) was observed. A significant improvement of finger oedema, skin sclerosis, motion and strength of the hands and of the vascular suppression score was also noted. The reduction in hand pain approached statistical significance (P = 0.052). The questionnaire revealed a benefit in daily activities, housework and social activities.

Conclusion: ADSVF injection is a promising therapy and appears to have benefits that extend for at least 1 year.
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http://dx.doi.org/10.1093/rheumatology/kev323DOI Listing
February 2016

Anti-PD1 Pembrolizumab Can Induce Exceptional Fulminant Type 1 Diabetes.

Diabetes Care 2015 Nov 26;38(11):e182-3. Epub 2015 Aug 26.

Department of Nutrition, Metabolic Diseases and Endocrinology, La Conception Hospital, Assistance Publique-Hôpitaux de Marseille, Marseille, France Faculty of Medicine, Aix-Marseille University, Marseille, France INSERM, UMR 1062, Marseille, France Institut National de la Recherche Agronomique, UMR 1260, Marseille, France

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http://dx.doi.org/10.2337/dc15-1331DOI Listing
November 2015

Burden of inherited ichthyosis: a French national survey.

Acta Derm Venereol 2015 Mar;95(3):326-8

Reference Centre for Rare Skin Diseases, Dermatology Department, CHU Toulouse, Larrey Hospital, FR-31059 Toulouse, France.

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses.
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http://dx.doi.org/10.2340/00015555-1955DOI Listing
March 2015

Safety, tolerability and potential efficacy of injection of autologous adipose-derived stromal vascular fraction in the fingers of patients with systemic sclerosis: an open-label phase I trial.

Ann Rheum Dis 2015 Dec 11;74(12):2175-82. Epub 2014 Aug 11.

Plastic Surgery Department, Assistance Publique Hôpitaux de Marseilles (AP-HM), Aix-Marseilles University, Marseilles, France Culture and Cell Therapy Laboratory, INSERM CBT 510, Assistance Publique Hôpitaux de Marseilles (AP-HM), Aix-Marseilles University, Marseilles, France.

Background: In patients with systemic sclerosis (scleroderma, SSc), impaired hand function greatly contributes to disability and reduced quality of life, and is insufficiently relieved by currently available therapies. Adipose tissue-derived stromal vascular fraction (SVF) is increasingly recognised as an easily accessible source of regenerative cells with therapeutic potential in ischaemic or autoimmune diseases. We aimed to measure for the first time the safety, tolerability and potential efficacy of autologous SVF cells local injections in patients with SSc with hand disability.

Methods: We did an open-label, single arm, at one study site with 6-month follow-up among 12 female SSc patients with Cochin Hand Function Scale score >20/90. Autologous SVF was obtained from lipoaspirates, using an automated processing system, and subsequently injected into the subcutaneous tissue of each finger in contact with neurovascular pedicles. Primary outcome was the number and the severity of adverse events related to SVF-based therapy. Secondary endpoints were changes in hand disability and fibrosis, vascular manifestations, pain and quality of life from baseline to 2 and 6 months after cell therapy.

Findings: All enrolled patients had surgery, and there were no dropouts or patients lost to follow-up. No severe adverse events occurred during the procedure and follow-up. Four minor adverse events were reported and resolved spontaneously. A significant improvement in hand disability and pain, Raynaud's phenomenon, finger oedema and quality of life was observed.

Interpretation: This study outlines the safety of the autologous SVF cells injection in the hands of patients with SSc. Preliminary assessments at 6 months suggest potential efficacy needing confirmation in a randomised placebo-controlled trial on a larger population.

Funding: GFRS (Groupe Francophone de Recherche sur la Sclérodermie).

Clinical Trials Number: NCT01813279.
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http://dx.doi.org/10.1136/annrheumdis-2014-205681DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680117PMC
December 2015

Prevalence of inherited ichthyosis in France: a study using capture-recapture method.

Orphanet J Rare Dis 2014 Jan 6;9. Epub 2014 Jan 6.

Reference Centre for Rare Skin Diseases, Dermatology Department, Larrey Hospital, CHU Toulouse, Toulouse, France.

Background: Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France.

Methods: Capture - recapture method was used for this study. According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. The study was conducted in 5 areas during a closed period.

Results: The prevalence was estimated at 13.3 per million people (/M) (CI95%, [10.9 - 17.6]). With regard to autosomal recessive congenital ichthyosis, the prevalence was estimated at 7/M (CI 95% [5.7 - 9.2]), with a prevalence of lamellar ichthyosis and congenital ichthyosiform erythroderma of 4.5/M (CI 95% [3.7 - 5.9]) and 1.9/M (CI 95% [1.6 - 2.6]), respectively. Prevalence of keratinopathic forms was estimated at 1.1/M (CI 95% [0.9 - 1.5]). Prevalence of syndromic forms (all clinical forms together) was estimated at 1.9/M (CI 95% [1.6 - 2.6]).

Conclusions: Our results constitute a crucial basis to properly size the necessary health measures that are required to improve patient care and design further clinical studies.
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http://dx.doi.org/10.1186/1750-1172-9-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892037PMC
January 2014