The authors report a case of a large oral tumour. On the basis of classical histological and histochemical techniques, the diagnosis was oriented towards an angiosarcoma though it was not possibile to eliminate an achromic melanoma. Ultrastructural studies demonstrated the presence of premelanosomes and established the diagnosis of an achromic malignant melanoma. The clinical interest of this approach isthus emphasised.
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Orphanet J Rare Dis
March 2024
Institute of Pharmacology and Toxicology, Centre for Biomedical Education and Research (ZBAF), School of Medicine, Witten/Herdecke University, Witten, Germany.
Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including treatment-refractory epilepsy, intellectual disability and TSC-associated neuropsychiatric disorders, chronic kidney disease or progressive lung function decline. Given the complexity of this disease, multidisciplinary care in specialized TSC centres is recommended.
View Article and Find Full Text PDFJ Dermatolog Treat
December 2023
Department of Dermatology, College of Medicine, Imam Mohammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.
Background: Nevus depigmentosus (ND) is one of the pigmentary conditions that is characterized by a hypopigmented patch with an irregular border. It is usually present at birth or shortly after birth. It is not a progressive condition, but it may increase in size in proportion to the growth of the body.
View Article and Find Full Text PDFActa Derm Venereol
August 2023
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, State Key Laboratory of Complex Severe and Rare Diseases, National Clinical Research Center for Dermatologic and Immunologic Diseases, Beijing, China.
Hypopigmented mycosis fungoides is a rare form of mycosis fungoides that is characterized by achromic lesions, early onset of disease, a predilection for darker skinned populations, and a predominance of CD8+ T cells. Due to the rarity and heterogeneous presentation of hypopigmented mycosis fungoides, there are no criteria that clearly define the clinical characteristics and treatment regimens for this condition. This retrospective study of 44 paediatric patients with hypopigmented mycosis fungoides aimed to summarize their epidemiological and clinical characteristics and assess the effectiveness and safety of different treatment regimens.
View Article and Find Full Text PDFYonsei Med J
February 2023
The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea.
Purpose: To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population.
Materials And Methods: A total of 98 patients with TSC were enrolled in Severance Hospital for a retrospective cohort study. The number of retinal astrocytic hamartoma and retinal achromic patch within a patient, as well as the size, bilaterality, and morphological type were studied.
Diagnostics (Basel)
August 2022
Pathology Department of the Bucharest Oncology Institute, "Carol Davila" University of Medicine and Pharmacy, 022328 Bucharest, Romania.
According to European consensus-based interdisciplinary guidelines for melanoma, cutaneous melanoma (CM) is the most deadly form of dermatological malignancy, accounting for 90% of the deaths of skin cancer patients. In addition to cutaneous melanoma, mucosal melanoma occurs in four major anatomical sites, including the upper respiratory tract, the conjunctiva, the anorectal region, and the urogenital area. As this cancer type metastasizes, a classification used in the current medical literature is the distinction between secondary lesions and primary malignant melanoma of the abdominal cavity.
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