Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in KRAS have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 KRAS variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. The presence of a nevus psiloliparus in individuals with OES indicates that this finding is not specific for ECCL and highlights the phenotypical overlap between ECCL and OES. The presence of the somatic KRAS variant in the nevus psiloliparus resolves the underlying molecular etiology of this fatty-tissue nevus. In addition, this finding refutes the theory of non-allelic twin-spotting as an underlying hypothesis to explain the concurrent presence of two different mosaicisms in one individual. The identification of codon 146 KRAS variants in isolated epidermal nevus introduces a new hot spot for this condition, which is useful for increasing molecular genetic testing using targeted gene sequencing panels.

Belgian atopic dermatitis guidelines.

Atopic dermatitis (AD) is one of the most common, bothersome and difficult to treat skin disorders. Recent introduction of new systemic treatments has revolutionized the management of AD. The goal of this guideline is to provide evidence-based recommendations for the management of patients suffering from atopic dermatitis that easily can be implemented in clinical practice. These recommendations were developed by 11 Belgian AD experts. Comments of all experts on the proposed statements were gathered, followed by an online voting session. The most relevant strategies for the management and treatment of AD in the context of the Belgian health care landscape are discussed. General measures, patient education and adequate topical treatment remain the cornerstones of AD management. For moderate to severe AD, the introduction of biologics and JAK inhibitors show unprecedented efficacy, although currently access is limited to a subgroup of patients meeting the reimbursement criteria.

Comparative Whole Metagenome Analysis in Lesional and Nonlesional Scalp Areas of Patients with Psoriasis Capitis and Healthy Individuals.

Psoriasis is an immune-mediated inflammatory disorder, where the majority of the patients suffer from psoriasis capitis or scalp psoriasis. Current therapeutics remain ineffective to treat scalp lesions. In this study, we present a whole-metagenome characterization of the scalp microbiome in psoriasis capitis. We investigated how changes in the homeostatic cutaneous microbiome correlate with the condition and identified metagenomic biomarkers (taxonomic, functional, virulence factors, antimicrobial resistance genes) that could partly explain its emergence. Within this study, 83 top and back scalp samples from healthy individuals and 64 lesional and nonlesional scalp samples from subjects with untreated psoriasis capitis were analyzed. Using qPCR targeting the 16S and 18S ribosomal RNA genes, we found a significant decrease in microbial load within scalp regions affected by psoriasis compared with that in their nonlesional counterparts. Metagenomic analysis revealed that psoriatic lesions displayed significant lower Cutibacterium species (including C. modestum, C. namnetense, C. granulosum, C. porci), along with an elevation in Staphylococcus aureus. A heightened relative presence of efflux pump protein-encoding genes was detected, suggesting potential antimicrobial resistance mechanisms. These mechanisms are known to specifically target human antimicrobial peptides (including cathelicidin LL-37), which are frequently encountered within psoriasis lesions. These shifts in microbial community dynamics may contribute to psoriasis disease pathogenesis.

A multileveled approach in psoriasis assessment and follow-up: A proposal for a tailored guide for the dermatological practice.

BACKGROUND: Psoriasis is a complex and heterogeneous disease resulting from interactions between genetic, immunological, and environmental factors. To make the most optimal treatment decision, the dermatologist must therefore have a detailed overview of the patient's history and lifestyle. OBJECTIVES: We sought to offer an overview of the various relevant aspects in clinical dermatological assessment of psoriasis patients, emphasizing the importance of a multidisciplinary and integrated clinical approach. METHODS: We gathered information on psoriasis management and developed a tailored checklist covering all health-related aspects associated with psoriasis. RESULTS: Demographics, personal and family history were elaborately described as well as drug history to discuss how they affect psoriasis management. Relevant patient information such as the vaccination status or cardiovascular profile were included in the checklist as well and treatment recommendations were adapted and updated in accordance with evidence-based literature. This checklist also emphasizes the importance of drug surveillance, proper follow-up and specialist referral, and why the dermatologist needs to address these health-related aspects when assessing psoriasis patients, going beyond optimal skin care. CONCLUSIONS: Our comprehensive overview can be used as a consultation checklist for good clinical practice in psoriasis patient management and aid in treatment decision.

SACRAL syndrome: spinal dysraphism, anogenital, cutaneous, renal and urologic anomalies, associated with an angioma of lumbosacral localization.

BACKGROUND: Publications concerning perineal infantile hemangiomas are scarce, and comprise no large series. OBJECTIVE: Studying clinical features of hemangiomas of the perineal area, complications and associated malformations. METHODS: Retrospective analysis of all hemangiomas localized in the perineal area, encountered at the Children's Hospital in Bordeaux from 1994. RESULTS: Of 49 perineal hemangiomas (34 girls, 15 boys), 5 patients had accompanying malformation, mainly lipomyelomeningocele with tethered cord. The superficial hemangiomas were more represented in males and presented sooner than the nodular counterpart. The average rate of ulceration was 73%, ulcerations developed earlier in the superficial forms than their nodular counterparts (2 vs. 4 months). CONCLUSION: Superficial perineal hemangiomas are more often complicated by ulceration, and are associated with developmental anomalies. As a counterpart for the PHACE syndrome in facial hemangioma, we propose the acronym SACRAL for perineal hemangiomas: Spinal dysraphism, Anogenital anomalies, Cutaneous anomalies, Renal and urologic anomalies, associated with Angioma of Lumbosacral localization.

Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy.

Diffuse plane normolipaemic xanthomatosis is a well-defined uncommon condition characterized by yellow-orange plaques involving the eyelids, neck, upper trunk, buttocks and flexural folds. Over half of the reported cases are associated with lymphoproliferative disorders. The condition may arise as a result of perivascular deposition of lipoprotein-immunoglobulin complexes. We present a female patient with clear clinical features of diffuse plane xanthomatosis associated with chronic lymphatic leukaemia and monoclonal gammopathy. In this patient, we found evidence of complement consumption supporting the hypothesis that complexes of lipoprotein and paraprotein are formed. Lipid electrophoresis of fasting serum revealed the presence of a faint precipitate at the application slot, also indicative of the presence of protein-lipid complexes.