Publications by authors named "Eve Puzenat"

47 Publications

Analysis of cytokines in tear fluid from atopic dermatitis patients with dupilumab-associated ocular adverse events.

J Eur Acad Dermatol Venereol 2021 Oct 8. Epub 2021 Oct 8.

Department of Dermatology, CHU Besançon, 3 Bd Fleming, 25000, Besançon, France.

Although the introduction of dupilumab has revolutionized the management of atopic dermatitis (AD), dupilumab-associated ocular adverse events (DAOAE) represent the first cause for discontinuation of dupilumab. The exact pathogenesis of DAOAE events observed is unknown. We conducted a prospective study from October 2019 to June 2020 to determine the feasibility of cytokine analysis in tear fluid obtained by non-invasive capillarity from AD patients treated with dupilumab and to compare the inflammatory cytokine profiles before and during dupilumab treatment between patients with and without DAOAE.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/jdv.17729DOI Listing
October 2021

Naturally Occurring Telomerase-Specific CD4 T-Cell Immunity in Melanoma.

J Invest Dermatol 2021 Aug 2. Epub 2021 Aug 2.

INSERM, EFS BFC, UMR1098, RIGHT, University of Burgundy Franche-Comte, Besancon, France; INSERM CIC 1431, Clinical Investigation Center in Biotherapy, Biomonitoring Plateform, Besancon, France; Department of Medical Oncology, University Hospital of Besancon, Besancon, France. Electronic address:

CD4 T cells play a key role in anticancer immunity. In this study, we investigate the clinical relevance of circulating CD4 T helper type 1 (Th1) response against telomerase (anti-TERT Th1 response) in patients with melanoma. The spontaneous anti-TERT Th1 response was detected in 54.5% (85/156) of patients with melanoma before treatment. The prevalence of this systemic response was inversely related to Breslow thickness >1 mm and American Joint Committee on Cancer stage ≥II (P = 0.001 and 0.032, respectively). In contrast to patients treated with targeted therapies, the anti-TERT Th1 immunity was associated with an objective response after immune checkpoint inhibitors treatment. Hence, 86% (18/21) of responder patients exhibited pre-existing anti-TERT Th1 versus 35% (6/19) in nonresponders (P = 0.001). This response was also associated with increased progression-free survival and overall survival in patients with melanoma treated with immune checkpoint inhibitors (P = 0.0008 and 0.012, respectively). Collectively, the presence of circulating anti-TERT Th1 response is inversely related to melanoma evolution and appears to be a predictive factor of response to immunotherapy. Our results highlight the interest in telomerase-specific CD4 Th1 response as a promising blood-based biomarker of immune checkpoint inhibitors therapy in melanoma.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2021.07.160DOI Listing
August 2021

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS): Series of 49 French Pediatric Cases.

J Allergy Clin Immunol Pract 2021 Jul 29. Epub 2021 Jul 29.

Service de Dermatologie, Hôtel Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France. Electronic address:

Background: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare and potentially fatal adverse reaction. It can be difficult to diagnose, even more so among children, because symptoms may mimic other commonly encountered pediatric conditions.

Objective: To describe clinical and laboratory features of DRESS syndrome in the pediatric population (age ≤18 years) and establish causative agents and treatment modalities.

Methods: This was a multicenter retrospective study of probable and definite DRESS cases (Registry of Sever Cutaneous Adverse Reaction score ≥ 4) in children hospitalized in 15 French university hospitals between 2000 and 2020.

Results: We included 49 cases. All children had fever and rash, 69.4% had lymphadenopathy, and 65.3% had facial edema. The most common organ affected was the liver (83.7%). Treatment consisted of topical corticosteroid in only 30.6% and systemic corticosteroid in 55.1%; 12.2% received intravenous immunoglobulin. Among probable and likely culprit drugs, 65% were antibiotics and 27.5% were antiepileptics, median time to DRESS symptom onset after initiation of 15 days (13 days with antibiotics and 21 days with antiepileptics). Twenty-seven children had allergy assessment for causative agents, 65.4% of whom had positive tests.

Conclusions: Culprit drugs are frequently antibiotics and antiepileptic drugs, and onset is often less than 2 weeks after treatment starts, especially with antibiotics. Treatment with topical corticosteroids appears to be sufficient in the least severe cases. Treatment by systemic corticosteroid therapy remains the reference treatment in case of severe organ damage.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2021.07.025DOI Listing
July 2021

Skin Lesions in an Child with Rhinitis and Painful Paresis.

Clin Infect Dis 2021 07;73(1):161-163

Sce de Dermatologie, CHU, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/cid/ciaa1919DOI Listing
July 2021

Lower Eyelid Nodule: Chalazion or Idiopathic Facial Aseptic Granuloma? A Case Series.

Acta Derm Venereol 2021 May 10;101(5):adv00451. Epub 2021 May 10.

Department of Dermatology and INSERM 1098 RIGHT, University Hospital, 3 Bd Fleming, FR-25030 Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3779DOI Listing
May 2021

Primary cutaneous lymphoma: a population-based cancer registry descriptive study of 155 consecutive cases diagnosed between 1979 and 2016.

Leuk Lymphoma 2021 08 8;62(8):2010-2013. Epub 2021 Mar 8.

Sce de Dermatologie, Inserm 1098 RIGHT, Université de Franche Comté, Centre Hospitalier Universitaire, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/10428194.2021.1891232DOI Listing
August 2021

Dissecting cellulitis of the scalp treated by tumour necrosis factor inhibitors: a case series.

Eur J Dermatol 2021 Feb;31(1):81-85

Dpt of Dermatology and Inserm Unit 1098 RIGHT, University of Franche Comté and University Hospital, Besançon, France.

Background: Dissecting cellulitis of the scalp (DCS), also known as Hoffmann disease or perifolliculitis capitis abscedens et suffodiens, is a rare disease characterized by chronic inflammation of the scalp. Treatment is difficult and often disappointing.

Objectives: To report our experience of TNF inhibitors in a series of patients with DCS.

Materials & Methods: We conducted a monocentric retrospective study of nine patients with DCS treated with TNF blocker after failure of other conventional treatments.

Results: After a mean duration of treatment by TNF inhibitors of 17 ± 16 months, four patients (44% versus 0%) had a Physician's Global Assessment score of 0 or 1. We observed a 67% reduction in the number of inflammatory nodules, an 88% reduction in purulent drainage and a 45% improvement in Dermatology Life Quality Index. The mean treatment satisfaction index was 6.6 ± 1.6 out of 10.

Conclusion: Our study suggests that TNF inhibitors are effective against disease activity and may improve quality of life in the management of DCS refractory to conventional treatments.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2021.3969DOI Listing
February 2021

A survey of psoriasis patients on biologics during COVID-19: a high-epidemic area experience - Franche Comté, France.

Eur J Dermatol 2021 02;31(1):101-103

Dpt of Dermatology, University Hospital, Besançon, France, Inserm 1098 RIGHT, University of Franche Comté, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2020.3960DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8120764PMC
February 2021

Angiosarcoma: A population-based cancer registry descriptive study of 45 consecutive cases diagnosed between 1979 and 2016.

Rare Tumors 2020 14;12:2036361320979216. Epub 2020 Dec 14.

Sce de Dermatologie, Inserm 1098 RIGHT, Université de Franche Comté, Centre Hospitalier Universitaire, Besançon, France.

Angiosarcoma (AS) is a rare aggressive sarcoma with differentiation toward blood or lymphatic endothelium. There are few epidemiological data available on AS. To address this limitation, we investigated the epidemiological and clinical features of angiosarcoma diagnosed in a French administrative area (the Doubs department) from 1979 to 2016. A retrospective cohort study was conducted using the Doubs cancer registry database. A total of 45 patients with invasive AS were diagnosed between 1979 and 2016 in the Doubs department. Among the 45 AS, 51% were either cutaneous AS (27%), including head and neck and extremities, or breast AS (24%) as compared to visceral AS (42%). Eleven patients had metastasis at diagnosis (26%). Age-standardized incidence rate was 0.15 per 100,000 persons-years (95%CI, 0.10-0.20) for the entire study period (1979-2016) and 0.26 (95%CI, 0.15-0.42) for the last decade (2007-2016). Crude survival at 1, 3, 5 years after diagnosis was 44%, 21%, and 12%, respectively. Our population-based study provides updated data on the incidence and overall survival of AS in a French population-based cancer registry.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1177/2036361320979216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739202PMC
December 2020

COVID-19 and skin cancer management: French nation-wide questionnaire survey from real-life practice.

J Dermatolog Treat 2020 Aug 24:1-2. Epub 2020 Aug 24.

Dermatology Department, Hospital Minjoz, Besancon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09546634.2020.1801972DOI Listing
August 2020

MEK inhibitors combined with programmed cell death-1 blockade immunotherapy for metastatic uveal melanoma: is it warranted?

Melanoma Res 2020 12;30(6):606-607

Service de Dermatologie.

In the setting of metastatic uveal melanoma (mUM), prognosis is dismal and treatment options are limited. MEK inhibition using selumetinib has led to promising results with improved progression-free survival. While immune checkpoint inhibitors such as programmed cell death-1 (PD-1) blockade therapy (anti-PD-1) has shown discrete efficacy in mUM, combining MEK inhibitors (MEKi) to anti-PD-1 might be an option as such combinations have shown synergistic efficacy in metastatic cutaneous melanoma. We report here and discuss our experience in three patients who received this combination in the absence of suitable alternative treatment. The efficacy was difficult to assess due to early severe toxicities (pneumonitis and Takotsubo syndrome). This case series highlights the need to evaluate the safety and efficacy of new treatment options such as MEKi and anti-PD-1 for mUM.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1097/CMR.0000000000000677DOI Listing
December 2020

Long-Term Infliximab Treatment in Psoriasis Patients: A National Multicentre Retrospective Study.

Dermatol Res Pract 2020 9;2020:2042636. Epub 2020 Mar 9.

French Society of Dermatology, Paris, France.

Background: Although infliximab (IFX) has been available since 2005, there are very little data on the long-term drug survival of infliximab in real-life.

Objective: Our aim was to identify and describe psoriasis patients treated with IFX for longer than 6 years.

Methods: Psoriasis patients treated with IFX for longer than 6 years were retrospectively included. Demographic and clinical data were collected in May 2018.

Results: Between January 2005 and December 2012, 43 patients were maintained on IFX for 6 years or longer. IFX was introduced as a 4.5 line of systemic therapy. The mean duration of IFX treatment was 8.5 years (6-12). In May 2018, 30 patients (70%) were still maintained on IFX at 4-6 mg/kg every 8-10 weeks with an efficiency of about 100%. IFX was stopped in 13 patients (30%) mainly for loss of efficacy in 6 patients (46%). Three patients developed solid cancer including bladder cancer, lung cancer, and prostate cancer. . Retrospective study.

Conclusion: We report the efficacy and safety of IFX maintained for up to 12 years in psoriasis patients. The long-term use of IFX was associated with a high BMI confirming the critical role of weight-based dosing for this drug.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1155/2020/2042636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7085387PMC
March 2020

Dupilumab Efficacy and Safety in Adolescents with Moderate-to-Severe Atopic Dermatitis: A Case Series.

Acta Derm Venereol 2020 Jan 7;100(1):adv00014. Epub 2020 Jan 7.

Department of Dermatology, University Hospital, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3368DOI Listing
January 2020

Kaposi's varicelliform eruption due to cytomegalovirus infection in a six-month-old infant.

Eur J Dermatol 2019 Oct;29(5):564-565

Dpt of Dermatology, University of Franche Comté EA3181, and University Hospital, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2019.3630DOI Listing
October 2019

Vitiligo Repigmentation with Melanoma Progression During Pembrolizumab Treatment.

Acta Derm Venereol 2019 09;99(10):913-914

Department of Dermatology, University of Bourgogne-Franche Comté, FR-25000 Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3199DOI Listing
September 2019

Comment on "Trends in phototherapy utilization among Medicare beneficiaries in the United States, 2000 to 2015".

J Am Acad Dermatol 2018 Nov 21. Epub 2018 Nov 21.

The Dermatology Department, University Hospital, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2018.10.071DOI Listing
November 2018

Paraneoplastic Opsoclonus-Myoclonus Syndrome Preceding a Mucosal Malignant Melanoma.

Acta Derm Venereol 2019 Mar;99(3):337-338

Department of Dermatology, University Hospital, Besancon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-3062DOI Listing
March 2019

Long-term adverse event: inflammatory orbitopathy induced by pembrolizumab in a patient with metastatic melanoma.

Invest New Drugs 2019 04 25;37(2):375-377. Epub 2018 Aug 25.

Service de Dermatologie, Centre Hospitalier Universitaire, 3 Boulevard Alexandre Fleming, 25030, Besançon cedex, France.

The recent advent of immune checkpoint inhibitors (ICI), including anti-programmed cell death 1 protein (anti-PD-1) agents has revolutionized the therapeutic approach of metastatic malignancies. Yet, ICI can disrupt immune tolerance resulting in enhanced immune activation in normal tissues with significant toxicity. A dysregulated activation of T-cells directed to normal tissues stands as the main mechanism of immune-related adverse events (irAE). To date, only two cases of immune-related inflammatory orbitopathy related to anti-PD-1 agents have been reported. This rare immune adverse event usually occurred early after ICI initiation. Here, we report the first case of late inflammatory orbitopathy occurring in a melanoma patient treated with pembrolizumab. Consequently, the occurrence of irAE under ICI should be monitored, even late after treatment instauration.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10637-018-0659-9DOI Listing
April 2019

Efficacy and survival of biologic agents in psoriasis: a practical real-life 12-year experience in a French dermatology department.

J Dermatolog Treat 2019 Sep 8;30(6):540-544. Epub 2019 Apr 8.

a Department of Dermatology, University Hospital and EA3181, University of Franche Comté , Besançon , France.

Drug survival in a real-life setting is critical to long-term use of biologics for psoriasis. : We describe our 12-year experience with biologics in psoriasis patients. All patients treated with biologics including infliximab, adalimumab (ADA), etanercept (ETA), and ustekinumab (UST) for psoriasis vulgaris between January 2005 and December 2016 were retrospectively analyzed. In total, 545 treatment series were administered to 269 patients, including 211 treatment series with ADA, 135 with ETA, 77 with infliximab, and 122 with UST. ADA and ETA were initiated most often as first-line therapy; 65.3% of treatment sequences were discontinued. UST had the highest drug survival. The major reason for treatment termination was a loss of efficacy (44.9%). Definitive discontinuation increased with the number of biologic therapy sequences. Subjects were not randomized to the different treatments. In a long-term real-life setting, drug survival of UST is better than that of TNF-a inhibitors for both biologic-naive and biologic-experienced patients with psoriasis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1080/09546634.2018.1480746DOI Listing
September 2019

Pregnancy After Tubal Sterilization in a Woman Treated with Biologics for Severe Psoriasis.

Dermatol Ther (Heidelb) 2018 Jun 9;8(2):323-326. Epub 2018 Mar 9.

Service de Dermatologie, Centre Hospitalier Universitaire, Université de Franche Comté, Unité de recherche EA 3181, Besançon, France.

Little is known about whether immunosuppressed patients mount the immunological response necessary to ensure tubal occlusion. Theoretical concern for non-occlusion has limited the use of hysteroscopic sterilization in patients on immunosuppressive therapies. The effects of tumor necrosis factor-alpha (TNF-α) blockers and interleukin (IL)-17 inhibitors on contraception and pregnancy for patients with psoriasis are poorly documented. We report a case of pregnancy that ended in miscarriage in a patient treated first with TNF-α and then with IL-17 inhibitors for severe psoriasis after tubal sterilization with micro-inserts. Our observation suggests that the efficacy of tubal sterilization by micro-inserts may be impaired by these two biologics and that the risk of miscarriage may be increased in women with psoriasis treated with secukinumab.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13555-018-0232-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6002320PMC
June 2018

Richner-Hanhart syndrome (tyrosinemia type II).

Cutis 2017 12;100(6):E20-E22

Service de Dermatologie, CHU, 3 Blvd Alexandre Fleming, 25030 Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
December 2017

[Adverse effects of immune checkpoint inhibitors used to treat melanoma and other cancer].

Presse Med 2017 Sep 3;46(9):808-817. Epub 2017 Jul 3.

CHU de Besançon, service de dermatologie, 25030 Besançon France; Université de Franche-Comté, EA3181 Besançon, France. Electronic address:

Monoclonal antibodies targeted against the immune checkpoint molecules CTLA-4 and PD-1 have recently obtained approval for the treatment of metastatic melanoma and advanced/refractory non small-cell lung cancers and metastatic renal cancer. Besides their efficacy profile, these immune targeted agents also generate immune-related adverse events that may be life threatening if not anticipated and managed appropriately. This new family of dysimmune toxicities remains largely unknown to the broad oncology community. We propose here some practical guidelines for the oncologist to help in the clinical care of patients under immune checkpoint molecules.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.lpm.2017.05.032DOI Listing
September 2017

Brugada syndrome induced by BRAF and MEK inhibitors in a melanoma patient.

Eur Heart J 2017 07;38(27):2151

Centre Hospitalier Universitaire, Service de Dermatologie, CHU, 3 Bd Fleming, 25030, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1093/eurheartj/ehx133DOI Listing
July 2017

Controlling the digital ulcerative disease in systemic sclerosis is associated with improved hand function.

Semin Arthritis Rheum 2017 06 13;46(6):759-766. Epub 2017 Jan 13.

Department of Dermatology, Assistance Publique-Hôpitaux de Marseille, Timone Hospital, Aix-Marseille University, Marseille, France.

Objectives: Ischemic digital ulcers (DU) represent a major complication of systemic sclerosis (SSc). We investigated the impact of controlling the ulcerative disease on disability, pain, and quality of life in SSc patients receiving bosentan.

Methods: ECLIPSE (Study AC-052-517) is a 2-year prospective, multicenter, and observational study. Patients with SSc who experienced at least 1 DU in the previous year and received bosentan were included between October 2009 and March 2011. Disability scores [Cochin Hand Function Scale (CHFS) and Health Assessment Questionnaire Disability Index (HAQ-DI)], pain scores (visual analog scale), and quality-of-life scores (SF-36) were collected at inclusion and 1 year later (primary endpoint). A controlled ulcerative disease was defined by the absence of ongoing/new DU episode between inclusion and 1-year follow-up.

Results: Data were available at 1 year for 120 patients out of 190 included. During follow-up, 46 (38.3%) patients experienced a new DU episode. The number of DU per patient decreased from 1.4 ± 1.8 at inclusion to 0.6 ± 1.6 (p < 0.0001) at 1 year. Disability scores decreased from 1.0 ± 0.7 to 0.9 ± 0.7 (p = 0.04) for the HAQ-DI and from 29 ± 20 to 25 ± 20 (p = 0.005) for the CHFS; the pain score decreased from 4.3 ± 3.1 to 2.9 ± 2.8 (p < 0.0001). This improvement was attributed to patients with a controlled ulcerative disease (48.3%), who significantly improved HAQ-DI (p = 0.04), CHFS (p = 0.04), and pain score (p = 0.046).

Conclusions: In patients with SSc, control of the ulcerative disease for 1 year was associated with significant attenuation of hand disability.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.semarthrit.2017.01.001DOI Listing
June 2017

Efficiency of an mTOR Inhibitor in Kasabach-Merritt Phenomenon with Indolent Tufted Angioma: A Case Report.

Acta Derm Venereol 2017 Jul;97(7):851-852

Department of Dermatology, Centre Hospitalier Universitaire, FR-25000 Besancon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2597DOI Listing
July 2017

Nail Psoriasis: A Systematic Evaluation in 313 Children with Psoriasis.

Pediatr Dermatol 2017 Jan 22;34(1):58-63. Epub 2016 Nov 22.

Service de Dermatologie, Hôpital Victor Dupouy, Argenteuil, France.

Background/objectives: Little information is available on the prevalence and clinical aspects of nail involvement in children with psoriasis. The objective of this study was to evaluate the prevalence and clinical aspects of and the risk factors for nail involvement in French children with psoriasis.

Methods: We performed a multicenter, cross-sectional study in 23 French dermatology centers. All children seen during the 1-year study were systematically included. Clinical features of the nails were collected. Association with clinical aspects of the disease and comorbidities were evaluated.

Results: Of 313 children with psoriasis (mean age 9.1 ± 4.2 yrs; 149 boys, 164 girls), 31.1% had familial psoriasis and 30% had severe psoriasis. The mean age at onset was 6.1 ± 3.7 years. Nails were involved in 32.3% of children. The main clinical aspects were pitting (69.1%) for fingernails and onycholysis (40.0%) and pachyonychia (27.5%) for toenails. All of the fingers were involved at similar frequencies, whereas the big toe was involved twice as often as the others (p < 0.005). Nail involvement was associated with male sex (p < 0.001), palmoplantar psoriatic (p < 0.001), severity of disease (p = 0.003), and psoriatic arthritis (p = 0.03).

Conclusion: The prevalence of nail involvement was 32.3% in children with psoriasis. Clinical aspects in children are reported, as well as clinical associations. As in adults, nail psoriasis is closely associated with psoriatic arthritis.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13028DOI Listing
January 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.
View Article and Find Full Text PDF

Download full-text PDF

Source
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.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2357DOI Listing
November 2016

DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists.

Acta Derm Venereol 2016 11;96(7):991-992

Service de Dermatologie, Centre Hospitalier Universitaire, Besançon, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2288DOI Listing
November 2016
-->