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1.
Dermatology ; 238(1): 12-17, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34380140

RESUMO

BACKGROUND: Timely diagnosis is the cornerstone of melanoma morbidity and mortality reduction. 2D total body photography and dermoscopy are routinely used to assist with early detection of skin malignancies. Polarized 3D total body photography is a novel technique that enables fast image acquisition of almost the entire skin surface. We aimed to determine the added value of 3D total body photography alongside dermoscopy for monitoring cutaneous lesions. METHODS: Lesion images from high-risk individuals were assessed for long-term substantial changes via dermoscopy and 3D total body photography. Three case studies are presented demonstrating how 3D total body photography may enhance lesion analysis alongside traditional dermoscopy. RESULTS: 3D total body photography can assist clinicians by presenting cutaneous lesions in their skin ecosystem, thereby providing additional clinical context and enabling a more holistic assessment to aid dermoscopy interpretation. For lesion cases where previous dermoscopy is unavailable, corresponding 3D images can substitute for baseline dermoscopy. Additionally, 3D total body photography is not susceptible to artificial stretch artefacts. CONCLUSION: 3D total body photography is valuable alongside dermoscopy for monitoring cutaneous lesions. Furthermore, it is capable of surveilling almost the entire skin surface, including areas not traditionally monitored by sequential imaging.


Assuntos
Dermoscopia/métodos , Imageamento Tridimensional/métodos , Melanoma/diagnóstico por imagem , Fotografação/métodos , Neoplasias Cutâneas/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal/métodos , Pele/diagnóstico por imagem
2.
Dermatol Ther ; 34(5): e15082, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34351669

RESUMO

H syndrome is a rare autosomal recessive disorder with clinical features comprising: hyperpigmentation, hypertrichosis, hearing loss, heart anomalies, low height, hypogonadism and hepatosplenomegaly. H syndrome results from loss-of-function mutations in SLC29A3 which leads to abnormal proliferation and function of histiocytes. Herein, we discuss the considerable phenotypic heterogeneity detected in a consanguineous Egyptian family comprising of four affected siblings, two of which are monozygotic twin and the possible therapeutics. The phenotypic variability may be attributed to the role of histiocytes in the tissue response to injury. Such variable expressivity of H syndrome renders the diagnosis challenging and delays the management. The different treatment approaches used for this rare entity are reviewed.


Assuntos
Perda Auditiva Neurossensorial , Histiocitose , Variação Biológica da População , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/terapia , Humanos , Mutação , Proteínas de Transporte de Nucleosídeos/genética , Síndrome
3.
Australas J Dermatol ; 62(2): e267-e271, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-33277699

RESUMO

The diagnosis of junctional and lentiginous naevi on sun-damaged skin of the head and neck in adults has been questioned in the literature, with the implication that these lesions should be classified as melanoma in situ. This could result in the overdiagnosis and overtreatment of non-malignant lesions. We conducted a cross-sectional study of the histopathological diagnosis of pigmented lesions biopsied from the head and neck of adults ≥40 years of age that were submitted to a large, Queensland-based pathology centre over seven months. Out of 543 lesions assessed, 293 (54.0%) were flat and 250 (46.0%) were raised. Flat naevi consisted of junctional/lentiginous and compound naevi, either with or without dysplasia. Collectively, flat naevi had a prevalence slightly less than that of melanoma (15.0% versus 19.0% among flat lesions, respectively, and 8.1% versus 11.2% among all lesions, respectively). The mean age of biopsy for all junctional/lentiginous naevi was significantly greater than that of all compound naevi (65.0 years versus 52.2 years; P = 0.001). Junctional/lentiginous naevi were significantly more associated with the neck than intradermal naevi (P < 0.001). In conclusion, benign, flat naevi account for a significant proportion of head and neck lesions in adults ≥40 years of age, and their location alone should not outweigh their histopathology when reaching a diagnosis.


Assuntos
Neoplasias de Cabeça e Pescoço/patologia , Nevo/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Biópsia , Estudos Transversais , Feminino , Humanos , Masculino , Melanoma/patologia , Pessoa de Meia-Idade , Queensland
4.
Clin Infect Dis ; 71(6): 1561-1563, 2020 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-31900472

RESUMO

We report 2 generalized verrucosis (GV) patients homozygous for a novel mutation in the start codon of IL7. Unlike the previous report in which IL-7 deficiency accompanied CD4 T lymphocytopenia, circulating CD4 T cells were not depleted in one of our patients, suggesting a GV pathogenesis other than poor T-cell development.


Assuntos
Linfócitos T CD4-Positivos , Interleucina-7/genética , Verrugas/genética , Alphapapillomavirus , Feminino , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Verrugas/virologia
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