Clinical and Experimental Dermatology最新文献

Background: Gorlin syndrome (GS) is an autosomal dominant disorder characterized by a predisposition to basal cell carcinoma and developmental defects. It is caused by pathogenic variants in the PTCH1 or SUFU genes.

Objectives: To ascertain the effectiveness of molecular screening in a cohort of patients with a suspicion of GS and to describe the patients' clinical and genetic characteristics.

Methods: In total, 110 patients with a suspicion of GS were studied. The patients were seen at the genetic department of Bichat University Hospital for molecular screening. The patients' clinical and paraclinical data were collected and analysed according to Evans' diagnostic criteria and were compared with molecular information.

Results: Among 110 probands, only 56% fulfilled Evans' diagnostic criteria. Overall, 75% of the patients who fulfilled those criteria carried a pathogenic variation in PTCH1 or SUFU. We compared the clinical and paraclinical data of 54 probands carrying a PTCH1 or SUFU mutation with 56 probands without identified mutations. Among patients carrying a pathogenic variation in the PTCH1 or SUFU genes, 30 years appears to be the cut-off age after which all patients have clear clinical GS. Indeed, after age 30 years, all patients carrying a PTCH1 or SUFU mutation fulfilled the diagnostic criteria of Evans (82% met the clinical criteria, reaching 100% with complementary examinations such as X-rays and ultrasound). Before 30 years of age, only 37% of patients with mutated genes fulfilled the clinical diagnostic criteria, reaching only 62% with simple complementary exams. We also report 22 new mutations in PTCH1.

Conclusions: Molecular screening of patients with GS who do not fulfil Evans' diagnostic criteria should only be offered in the first instance to patients under 30 years of age. After age 30 years, careful clinical examination and complementary radiological exams should be enough to eliminate the diagnosis of GS among patients who do not fulfil the diagnostic criteria.

Medical research, driven by advancing technologies like artificial intelligence (AI), is transforming healthcare. Dermatology, known for its visual nature, benefits from AI, especially in dermatopathology with digitized slides. This review explores AI's role, challenges, opportunities and future potential in enhancing dermatopathological diagnosis and care. Adhering to PRISMA and Cochrane Handbook standards, this systematic review explored AI's function in dermatopathology. It employed an interdisciplinary method, encompassing diverse study types and comprehensive database searches. Inclusion criteria encompassed peer-reviewed articles from 2000 to 2023, with a focus on practical AI use in dermatopathology. Numerous studies have investigated AI's potential in dermatopathology. We reviewed 112 papers. Notable applications include AI classifying histopathological images of naevi and melanomas, although challenges exist regarding subtype differentiation and generalizability. AI achieved high accuracy in melanoma recognition from formalin-fixed paraffin-embedded samples but faced limitations due to small datasets. Deep learning algorithms showed diagnostic accuracy for specific skin conditions, but challenges persisted, such as small sample sizes and the need for prospective validation. This systematic review underscores AI's potential in enhancing dermatopathology for better diagnosis and patient care. Addressing challenges like limited datasets and potential biases is essential. Future directions involve expanding datasets, conducting validation studies, promoting interdisciplinary collaboration, and creating patient-centred AI tools in dermatopathology to enhance accuracy, accessibility and patient-focused care.

Folliculitis decalvans (FD) is a chronic and recurrent neutrophilic scarring alopecia that mostly affects the vertex scalp of young male patients. It manifests as painful alopecic lesions surrounded by pustules, tuftings and intense scalp fibrosis. However, the occurrence of less active or 'lichen planopilaris-like' forms of FD questions the exact role of Staphylococcus aureus in the pathogenic mechanism of this disease. The management of FD is very challenging, as relapses are frequent and prolonged use of combined antibiotics is often required. Recent evidence showed the presence of S. aureus and lymphocytic inflammation also in nonlesional FD scalp. This suggested the potential use of immunomodulating drugs such as hydroxychloroquine to better control the chronic inflammatory status of this -disease.

Ferritin measurement is a common laboratory test in dermatology. Ferritin is a marker of iron storage in the human body but can also be -elevated in inflammatory states. Therefore, changes in ferritin are nonspecific, and correlation of specific clinical findings and risk factors with ferritin concentration and other biomarkers, e.g. iron studies or C-reactive protein tests, is recommended. This article discusses iron metabolism and the indications for ferritin measurement in dermatology and how to interpret the laboratory results.

Infantile haemangioma (IH) remains the most common benign vascular tumour in childhood. Although most IH can be managed conservatively, a proportion of these lesions can cause disfigurement, ulceration or functional impairment, requiring prompt intervention. Propranolol, a lipophilic nonselective beta blocker, has been regarded as first-line therapy, following a serendipitous discovery of its use for IH in 2008. Although efficacious, it has been associated with adverse effects such as hypoglycaemia, bronchospasm, sleep disturbances and agitation in infant trials. Atenolol, a hydrophilic beta-1 selective blocker, has demonstrated similar efficacy and potentially greater tolerability, being less likely to cause sleep disturbances given its inability to cross the blood-brain barrier, and a decrease in bronchial reactivity. The purpose of this review is to explore and critique current knowledge about the efficacy and safety of propranolol vs. atenolol in children with an IH. In total, seven studies comparing the two beta blockers were identified in our search. Atenolol appeared to be as efficacious as propranolol and was associated with fewer central nervous system and bronchial-related adverse events. Further research exploring the optimal dosing for atenolol, particularly for ulcerated or syndromic IHs, as well as the incidence and management of rebound growth would be beneficial.