JEADV clinical practice最新文献

A 68-year-old male presented with asymmetric anesthetized erythematous annular large plaques on the anterior and medial aspect of right and left thighs for 3 years (Figure 1a,b). The lesions were non-tender and did not show any signs of inflammation. On examination, the right ulnar nerve and common peroneal nerves were enlarged and there was decreased sensation in the distribution areas of these nerves. Enlarged nerves were visible on the skin adjacent to the lesions on both thighs (Figure 1b,c). There were no deformities in the limbs. The patient had a Grade 1 disability as per the WHO disability grading. A slit skin smear was negative. Histopathology showed numerous granulomas with perineuro distribution (Figure 2a,b). The patient was diagnosed with borderline tuberculoid leprosy.

Enlargement of peripheral nerves in leprosy is common, but the enlarged cutaneous nerves are rarely visible in tuberculoid and borderline tuberculoid leprosy [1]. Mycobacterium leprae is a neurotrophic bacillus. The mechanism of thickened cutaneous nerves in leprosy can be explained by ascending neuritis starting at the distal ends of cutaneous nerves from an infected skin lesion [2].

Sunil Jaiswal: conceptualization (lead), writing – original draft (lead), writing – review and editing (lead). Shraddha Uprety: investigation (lead), writing – original draft (lead). Pratichya Thapa: conceptualization (lead), methodology (lead). Prakriti Lamichhane: methodology (lead), conceptualization (supporting). All the authors contributed equally.

Patients in this manuscript have given written informed consent for participation in the study and the use of their de-identified, anonymized, aggregated data and their case details (including photographs) for publication. Ethical approval is not applicable.

The authors declare no conflicts of interest.

The data that support the findings of this study are available from the corresponding author upon reasonable request.

The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others. Mosaic skin abnormalities can present under a segmental pattern or as nonsegmental skin lesions. Nonsegmental mosaicism, which is most common, includes individual point lesions, tumours, hamartomatous lesions, or malformations, such as melanocytic nevi, Spitz tumours, and sporadic trichoepitheliomas. In some autosomal dominant genodermatoses with multiple skin lesions, a nonsegmental disseminated mosaicism emerges, often associated with neurological or multi-organ involvement. A patchy skin involvement without midline separation is frequently observed in congenital melanocytic nevi. Segmental mosaicism is less common and presents as asymmetric cutaneous lesions in one or more separate body areas, respecting the body's midline. While the precise mechanisms remain uncertain, these segments possibly reflect clonal expansion of cells during prenatal development. In this article, we provide an overview of the types of mosaicism, discussing their patterns, clinical manifestations, and the varying degrees of severity associated with these conditions.

Mosaicism refers to an individual who developed from a single fertilised egg but has two or more populations of cells with a different genotype as a result of a postzygotic mutation. Pigmentary mosaicism is reflected by a patterned hypo-, hyperpigmentation, or both combined in cutis tricolour. Pigmentary mosaicism can be associated with extracutaneous features (mainly neurological, musculoskeletal or ophthalmological). Three main mechanisms are involved in the development of pigmentary mosaicism: mosaicism for a chromosomal abnormality, mosaicism for an intragenic pathogenic variant and epigenetic mosaicism (X-linked due to X-chromosome inactivation). Recently, different new disease entities have been described with a specific genotype, most of them with characteristic extra-cutaneous features.

Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential diagnosis and applications of advances in genetic testing technology. This is aimed at supporting colleagues operating in genodermatosis clinical practice.

Congenital melanocytic naevi (CMN) are birthmarks that can cover large areas of the body. CMN can significantly impact individuals' lives due to perceived stigma, the risk for melanoma development and neurological complications. To treat and prevent these complications, adequate research and guidelines are needed. In this review, we present a summary of the Dutch multidisciplinary guideline and the lessons learned from the implementation and information developed additionally in collaboration with the patient association. We also introduce the core outcomes of the OCOMEN project to standardize outcomes for both research and care of CMN. The next step is the development of the instruments internationally.