Linda De Raeve

Genotypic and Gene Expression Studies in Congenital Melanocytic Nevi: Insight into Initial Steps of Melanotumorigenesis

Large congenital melanocytic nevi (CMNs) are said to have a higher propensity to malignant transformation compared with acquired nevi. Thus, they represent a good model for studying initial steps of melanotumorigenesis. We have performed genotypic (karyotype, fluorescence in situ hybridization, and mutational analyses) and differential expression studies on a large cohort of medium (n=3) and large (n=24) CMN. Chromosomal abnormalities were rare and single, a feature probably reflecting the benignity of these lesions. Mutational screening showed a high frequency of NRAS mutations in our series (19/27 cases, 70%), whereas BRAF mutations were less common (4/27 cases, 15%). Differential did not show significant alterations of cellular processes such as cell proliferation, cell migration/invasion, angiogenesis, apoptosis, and immune/inflammatory responses. However, significant downregulation of genes involved in pigmentation and upregulation of genes playing a role in DNA protection were observed. Lastly, our microarrays displayed upregulation of genes mediating chemoresistance in cancer. As alteration of pigmentation mechanisms can trigger oxidative damage, increased expression of genes involved in maintenance of DNA integrity might reflect the ability of nevocytic cells to self-protect against cellular stress. Furthermore, the observed alterations linked to chemoresistance might partially account for the well-known inefficacy of chemotherapy in malignant melanoma.

Therapeutic Patient Education in Atopic Dermatitis: Worldwide Experiences

Therapeutic patient education (TPE) has proven effective in increasing treatment adherence and improving quality of life (QoL) for patients with numerous chronic diseases, especially atopic dermatitis (AD). This study was undertaken to identify worldwide TPE experiences in AD treatment. Experts from 23 hospitals, located in 11 countries, responded to a questionnaire on 10 major items. Patients in TPE programs were mainly children and adolescents with moderate to severe AD or markedly affected QoL. Individual and collective approaches were used. Depending on the center, the number of sessions varied from one to six (corresponding to 2 to 12 hours of education), and 20 to 200 patients were followed each year. Each centers education team comprised multidisciplinary professionals (e.g., doctors, nurses, psychologists). Evaluations were based on clinical assessment, QoL, a satisfaction index, or some combination of the three. When funding was obtained, it came from regional health authorities (France), insurance companies (Germany), donations (United States), or pharmaceutical firms (Japan, Italy). The role of patient associations was always highlighted, but their involvement in the TPE process varied from one country to another. Despite the nonexhaustive approach, our findings demonstrate the increasing interest in TPE for managing individuals with AD. In spite of the cultural and financial differences between countries, there is a consensus among experts to integrate education into the treatment of eczema.

Therapeutic patient education in children with atopic dermatitis: position paper on objectives and recommendations

Poor adherence is frequent in patients with atopic dermatitis (AD), leading to therapeutic failure. Therapeutic patient education (TPE) helps patients with chronic disease to acquire or maintain the skills they need to manage their chronic disease. After a review of the literature, a group of multispecialty physicians, nurses, psychologists, and patients worked together during two international workshops to develop common recommendations for TPE in AD. These recommendations were structured as answers to nine frequently asked questions about TPE in AD: What is TPE and what are its underlying principles? Why use TPE in the management of AD? Who should benefit from TPE in AD? How can TPE be organized for AD? What is the assessment process for TPE in AD? What is the evidence of the benefit of TPE in AD? Who are the people involved in TPE? How should TPE be funded in dermatology? What are the limits of the TPE process?

Recommendations for pimecrolimus 1% cream in the treatment of mild-to-moderate atopic dermatitis: from medical needs to a new treatment algorithm

Pimecrolimus 1% cream is an effective, non-corticosteroid, topical anti-inflammatory treatment for atopic dermatitis (AD). The aim of this article was to review published clinical data that have examined how pimecrolimus can address the medical needs of AD patients. Clinical studies have demonstrated that early treatment with pimecrolimus decreases the progression to disease flares, rapidly improves pruritus and significantly enhances quality of life. Patients find the formulation easy to apply, which may result in improved adherence with the treatment regimen. Pimecrolimus, in contrast to topical corticosteroids (TCSs), does not induce skin atrophy or epidermal barrier dysfunction and is highly effective for the treatment of AD in sensitive skin areas. Furthermore, pimecrolimus reduces the incidence of skin infections compared with TCSs and is not associated with other TCS-related side effects such as striae, telangiectasia and hypothalamic-pituitary-adrenal axis suppression. An additional benefit of pimecrolimus is its substantial steroid sparing effect. On the basis of these data, a new treatment algorithm for patients with mild-to-moderate AD is proposed in which pimecrolimus is recommended as a first line therapy for patients with established mild AD at the first signs and symptoms of disease. Pimecrolimus is also recommended for mild-to-moderate AD after initial treatment with a TCS. After resolution of lesions, maintenance treatment with pimecrolimus may effectively prevent subsequent disease flares. In conclusion, the clinical profile of pimecrolimus suggests that it may be considered the drug of choice for the treatment of mild-to-moderate AD in children as well as adults and particularly in sensitive skin areas.

Panniculitis as the Presenting Sign of a Myelodysplastic Syndrome in an Adolescent Boy

Abstract:  Panniculitis is an uncommon condition in childhood and may prove difficult to diagnose both clinically and histologically. The clinical spectrum is similar to that in adults and has been associated with many primary diseases. Noninfectious causes are less common in children than in adults. The pathogenesis remains uncertain in a significant number of children. In some it may be a malignant, unremitting disease which can be fatal. We present a boy aged 13 years with panniculitis of the right foot as presenting sign for the ultimate diagnosis myelodysplasia‐acute myeloid leukemia. To our knowledge this is the first report on a young boy.

Blistering eruptions in Henoch-Schönlein syndrome: more common than assumed

Sir, With great interest, we read the article by Ramelli et al. [3] reviewing the literature on blistering eruptions in childhood Henoch-Schönlein syndrome between 1959 and 2016. We congratulate the authors for their extensive work and want to comment on the reported prevalence of bullous Henoch-Schönlein purpura in children. The authors identified 39 individual reports on bullous eruptions in childhood Henoch-Schönlein purpura and another 10 children in 7 case series containing 666 unselected pediatric Henoch-Schönlein cases for the final analysis of their literature search. The estimated prevalence of bullous eruptions in pediatric Henoch-Schönlein cases based on these findings was suggested to be < 2%, a percentage that was also proposed by previous authors [1, 2, 4], which is in contrast to the rather common occurrence of blistering eruptions in adults affected with HenochSchönlein syndrome [5]. We agree that blister formation is a rare finding in children with Henoch-Schönlein purpura. However, based on the population of patients with Henoch-Schönlein purpura that is referred to the Pediatric Dermatology Clinic of our university hospital, we assume that this phenomenon is underreported in the literature. Between February 2015 and March 2017, we have diagnosed 5 cases of bullous Henoch-Schönlein. All of these cases were immuno-competent female children aged between 6 and 17 years old. The severity of the lesions varied from subtle blisters confined to the center of the purpuric maculae in 3 cases to extensive large bullae in the remaining 2 cases. Especially in subtle cases, recognition of this entity may be challenging. Four out of five children were treated with systemic corticosteroids and all evolved well. Ramelli et al. [3] found a similar course in children treated with systemic steroids and those managed by a wait-and-see approach. Although we agree with what is found in literature, we do believe that treating severe cases with systemic corticosteroids could diminish complications such as necrosis and scarring.

Congenital Melanocytic Nevi: What to Do?

Congenital melanocytic nevi are one of the most common skin lesions, occurring in 1 % of newborns. They are important lesions as they can give rise to melanoma. The larger cosmetically disfiguring nevi may also have a great impact on quality of life. Although the clinical diagnosis is mostly not challenging, the management remains a matter of controversy. Current understanding of the risks associated with congenital melanocytic nevi of different sizes and the strategies for management of these nevi are discussed in this chapter.

Rote Beulen am Rücken eines Neugeborenen

Ein weibliches Baby wurde per Kaiserschnitt nach fetalem Stress von einer 40-jährigen Mutter geboren. Im Fruchtwasser wurde Mekonium nachgewiesen sowie eine perinatale Asphyxie (die Apgar-Werte lagen bei 1 beziehungsweise 5 nach 1 beziehungsweise 5 Minuten; der arterielle pHWert der Nabelschnur lag bei 6,96) festgestellt. Das Baby wurde mit einem Beatmungsbeutel beatmet, zwei Minuten lang wurde eine Herzdruckmassage durchgeführt. Darüber hinaus wurde ihr Körper für 72 Stunden auf 32°C heruntergekühlt. Fünf Tage später stellte man am Rücken des Babys feste, verhärtete erythematöse Flecken und Plaques fest (Abbildung 1 ). Rote Beulen am Rücken eines Neugeborenen A red, bumpy back in a neonate Diagnosequiz

A red, bumpy back in a neonate.

A female, term baby was born to a 40-year-old mother by Cesarean section performed due to fetal distress. There was meconium staining in the amniotic fl uid as well as perinatal asphyxia (Apgar scores were 1 and 5 after 1 and 5 minutes, respectively; arterial pH in the umbilical cord was 6.96). She was ventilated by mask and bag, and chest compressions were administered for two minutes. Moreover, she received whole-body cooling (at 32°C) for a period of 72 hours. Five days later, fi rm indurated erythematous patches and plaques were noted on the back of the patient (Figure 1 ). A red, bumpy back in a neonate Case for Diagnosis

Diaper dermatitis: differential diagnosis and treatment

Diaper dermatitis is considered to be one of the most common skin disorders of infancy. In spite of its frequency, preventive measures and practical treatment strategies have not been extensively studied. The pathogenesis is complex, and the term diaper dermatitis encompasses several disorders occurring in the diaper area. Very frequent problems, such as an irritant diaper dermatitis caused directly by the wearing of diapers, but also rare disorders, such as Langerhans‘ cell histiocytosis, can present in this location. The exact diagnosis is not always evident and must be based on the topography and the semeiology of the skin lesions. In this review, the pathophysiology of diaper dermatitis is outlined, differential diagnosis is discussed and practical prevention and management strategies are given.