Transient abdominal telangiectasia of the newborn: Four new cases with abdominal distension.

Transient abdominal telangiectasia of the newborn (TATN) is a recently described entity. The majority of cases had no specific clinical context or trigger identified, but a minority occurred in the clinical context of transient increased intraabdominal pressure. We report four additional cases of TATN, all in the presence of transient abdominal distension, further supporting the causative relationship of abdominal distension to TATN.

Capillary malformations in a child caused by a novel HRAS mutation.

A 6-year-old boy with multiple capillary malformations of the port-wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in-frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different genotypes and shows that somatic HRAS pathogenic variants, especially in-frame duplications/insertions, must be added to the list of the underlying causes in capillary malformations.

Incontinentia pigmenti Stage 1 is not simply vesiculo-bullous but vesiculo-pustular.

Incontinentia pigmenti (IP) is a rare X-linked dominant, male-lethal disorder characterized by pathognomic skin lesions. As described in the literature the typical cutaneous changes follow the pattern of Blaschko's lines and develop in four stages that usually start at birth. Stage 1 is called vesicular, bullous or inflammatory. The vesicles are rapidly filled with eosinophils and thus turn into pustules. Thus, the term "pustular" is relevant to the first phase of IP, and the stage can be considered as "vesiculopustular/inflammatory" to be more precise than "vesicular" or "bullous."

Acral manifestations associated with infection.

Acral lesions are well-known physical findings in various infectious disorders. Although they are often overlooked, they can be the key to the diagnosis of the underlying disease. Considering this, we present an overview of various infectious causes of acral lesions in childhood. In addition, we discuss their characteristic presentation, evolution, and appropriate treatment. To our knowledge, this is the first review covering viral, bacterial and mycotic causes.

Care for children with severe chronic skin diseases.

In this study, the care for children with a severe chronic skin disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified "my positive health" questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes. Parents of children with a variety of chronic skin diseases and young adult patients were interviewed to find out what an optimal approach would look like according to them. Children with a severe chronic and/or congenital skin disorder score high on the "my positive health" questionnaire, indicating they are able to adapt and self-manage. Their highest median score was measured for the dimension "quality of life." Their parents expect improvement of "working with health care professionals," more specifically they want them to adopt a more holistic approach throughout the patient's life. Structured interviews showed they expect that a multidisciplinary team of care providers determine together with the patient and its family-in advance-which care is needed, at what time and by whom. The interviewed professionals indicated adoption of a holistic multidisciplinary approach as the single largest improvement to achieve better care.Conclusion: Although these children with a severe chronic and/or congenital skin disease were able to adapt and self-manage, they need a more personalized integrative multidisciplinary and systematic transmural approach covering all aspects of life during their lifetime. What is Known: • Severe skin disorders affect the child and its family in several ways. In our expert center, we try to optimize the care for these children through a multidisciplinary approach. What is New: • To our knowledge, no English publication describes the requirements for good care for pediatric patients with severe chronic skin disorders and how to optimize this care. We evaluated the health status of children with severe chronic skin disorders and the strengths and weaknesses of past and current care by questioning these children, their parents, adult patients, and involved professionals.

Pitfalls in the diagnosis and management of Kawasaki disease: An update for the pediatric dermatologist.

Kawasaki disease is easily diagnosed when it presents in its complete form, but because not all characteristic symptoms are always present at the same time, and the diagnosis of incomplete and atypical Kawasaki disease is often challenging, a delay in diagnosis or misdiagnosis often occurs. We present the diagnostic approach to Kawasaki disease with common pitfalls and explain how to avoid them. We also describe current practice and new trends in treatment.

The proactive wet-wrap method with diluted corticosteroids versus emollients in children with atopic dermatitis: a prospective, randomized, double-blind, placebo-controlled trial.

BACKGROUND: Wet-wrap treatment (WWT) has been advocated as a relatively effective treatment in children with severe atopic dermatitis (AD). WWT often serves as crisis intervention for AD. OBJECTIVES: We sought to evaluate the use of WWT with diluted corticosteroids in comparison with emollient in children with severe AD during 4 weeks in a proactive schedule during which the frequency of corticosteroid applications was tapered. METHODS: A randomized, double-blind, placebo-controlled study was performed in children aged 6 months to 10 years with severe AD (objective SCORAD at least 40 ± 5), comparing WWT with diluted corticosteroids (1:3 mometasone furoate 0.1% ointment and for the face 1:19 mometasone furoate 0.1% ointment under a mask) with emollient (petrolatum 20% in cetomacrogol cream). The primary outcome was improvement of the objective SCORAD; secondary outcomes included Patient-Oriented Eczema Measure and quality-of-life index. RESULTS: WWT with diluted corticosteroids acted faster and was more efficacious than WWT with emollients. Best results were obtained in age groups 6 to 9 years and 0 to 3 years. The difference in efficacy evaluated by objective SCORAD was significant at all measuring points. This also applied to the quality-of-life index. LIMITATIONS: The study group was relatively small. CONCLUSIONS: WWT for severe AD is an effective therapy option for at least a period of 4 weeks.

Sturge-Weber syndrome: an update for the pediatrician.

BACKGROUND: Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma. SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways. We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices, the latest pathophysiological insights, and the potential novel therapeutic avenues they provide. DATA SOURCES: A narrative, non-systematic review of the literature was conducted, combining expert opinion with a balanced review of the available literature. A search of PubMed, Google Scholar and Embase was conducted, using keywords "Sturge-Weber Syndrome" OR "SWS", "Capillary malformations", "G protein subunit alpha 11" OR "G protein subunit alpha Q". RESULTS: One of the hallmark features of SWS is the presence of a port-wine birthmark at birth, and forehead involvement is most indicative for SWS. The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma. Glaucoma presents in either in infancy (0-3 years of age) or later in life. Neurological complications are common in SWS, occurring in about 70%-80% of patients, with seizures being the most common one. SWS significantly impacts the quality of life for patients and their families, and requires a multidisciplinary approach for diagnosis and treatment. Currently, no disease-modifying therapies exist, and treatment is mostly focused on symptoms or complications as they arise.  CONCLUSIONS: SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.

The association of allergic symptoms with sensitization to inhalant allergens in childhood.

Although it is generally agreed that sensitization is an important risk factor for allergic diseases, the extent to which sensitization accounts for allergic symptoms in children is controversial. As part of the Aalst Allergy Study, this cross-sectional study investigated the prevalence of allergic symptoms and their association with sensitization in an unselected population of Flemish children aged 3.4-14.8 yr. Skin prick testing with the most common aeroallergens was performed and allergic symptoms were documented by a parental questionnaire. In the children older than 6 yr, a significant association of current wheezing, current dyspnea, airway hyperreactivity, rhinoconjunctivitis, and current eczema with sensitization was found, while in the pre-school children these associations were less pronounced. The association with sensitization was strongest for rhinoconjunctivitis and current respiratory symptoms - the association was less striking for children with current eczema. The impact of a positive family history of allergy on the association with sensitization was more important for eczema than for the other analyzed allergic symptoms. Persistent and late-onset wheezers were significantly more likely than non-wheezers and transient early wheezers to be associated with sensitization and a personal history of rhinoconjunctivitis. Late-onset wheezing was associated with a positive family history of allergy, while transient early wheezing was associated with day-care attendance. An association with eczema was found for all three childhood wheezing phenotypes. The association of allergic symptoms with sensitization is significant in the older but less pronounced in pre-school children and is more pronounced for current allergic symptoms. Diagnosis and disease definition of allergy symptoms remains difficult at pre-school age. The influence of a positive family history of allergy on the association of the respective allergic symptoms with sensitization was most important for eczema. Our data confirm the atopic characteristics of the different wheeze phenotypes.

Clinical aspects of diffuse cutaneous mastocytosis in children: two variants.

OBJECTIVE: This paper describes two different clinical presentations of diffuse cutaneous mastocytosis (DCM), based on the largest series published to date. As far as we are aware, these two variants of clinical presentations have not yet been reported. DESIGN: We undertook a case controlled analysis of 8 children with DCM. Results of laboratory testing including mast cell mediator levels, and clinical symptoms on presentation and during follow-up were analyzed. RESULTS: The levels of relevant mast cell mediators were initially high in all cases but declined sharply later on. There was a reduction of 20% in 2 of the 7 cases, whereas there was a reduction of 80% in the remaining 5. No reduction occurred in 1 case. Clinical improvement followed the same pattern. CONCLUSIONS: DCM is a rare variant of cutaneous childhood onset mastocytosis. Various forms show the same or overlapping features at various times. It appears to follow a course similar to that in other types of childhood onset mastocytosis, taking into account the decreased symptoms and the levels of mast cell mediators during follow-up. Obtaining a bone marrow biopsy should be considered only in those cases where there is no improvement or even worsening of signs or symptoms and persistent elevated levels of mast cell mediators.