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Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis
Neurocutaneous melanosis (NCM) is a rare congenital neurocutaneous syndrome characterized by congenital melanocytic nevus of skin and abnormal...
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Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype
PurposeMuch of the heredity of melanoma remains unexplained. We sought predisposing germline copy-number variants using a rare disease approach.
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Early contribution of germline and nevi genetic alterations to a rapidly-progressing cutaneous melanoma patient: a case report
BackgroundCutaneous melanoma is the skin cancer with the highest mutational burden and metastatic rate. Early genetic alterations and biomarkers of...
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Ring Chromosome 7
In general, ring chromosomes (RCs) are among the rarest constitutional chromosomal aberrations. Hereby, chromosome 7 comprises only 23 postnatal and...
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The duality of human oncoproteins: drivers of cancer and congenital disorders
Human oncoproteins promote transformation of cells into tumours by dysregulating the signalling pathways that are involved in cell growth,...
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BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
BackgroundBRCA1 associated-protein 1 ( BAP1 ) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal...
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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3...
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Recent advancements in the diagnosis and treatment of acral melanoma
Acral melanoma (AM) is the most common histologic subtype of melanoma in dark-skinned patients and is associated with a worse prognosis and a high...
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Melanoma biology and treatment: a review of novel regulated cell death-based approaches
The incidence of melanoma, the most lethal form of skin cancer, has increased due to ultraviolet exposure. The treatment of advanced melanoma,...
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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal...
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Pluripotency markers are differentially induced by IGF1 and bFGF in cells from patients’ lesions of large/giant congenital melanocytic nevi
Factors regulating transcription of pluripotency genes in congenital nevo-melanocytes are not known. Nevo-melanocytes belong somewhere in-between the...
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Tyrosinase and nestin immunohistochemical expression in melanocytic nevi as a histopathologic pattern to trace melanocyte differentiation and nevogenesis
While histological analysis represents a powerful tool for the classification of melanocytic lesions as benign or malignant, a clear-cut distinction...
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Histopathological Basis for Acupuncture
Acupuncture and related techniques involve physical stimulation of cutaneous tissues and cells, but the specific tissue targets of acupuncture and...
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Curbside Consultations in Pediatric Dermatology: Risks and Benefits
Curbside consultations have always been a part of modern medical practice. Dermatology is given to this type of informal interaction in part due to...
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Melanoma with Brain Metastasis
Melanoma is the third most common skin malignancy but is the one with the highest propensity to metastasize, potentially able to disseminate to any...
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Early Melanoma Detection in Primary Care: Clinical Recognition of Melanoma is Not Enough, One Must Also Learn the Basics
To improve early melanoma detection, educational programs have been developed for general practitioners (GPs). This study aimed to determine whether...
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A six-attribute classification of genetic mosaicism
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg....
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Cutaneous Neoplasms
This chapter discusses the wide range of benign and malignant neoplasms found in the skin, including cysts and tumors of the epidermis, non-melanoma...
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Cell type identification from single-cell transcriptomes in melanoma
BackgroundSingle-cell sequencing approaches allow gene expression to be measured at the single-cell level, providing opportunities and challenges to...
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Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature
BackgroundThe microphthalmia-associated transcription factor gene ( MITF ) belongs to the MYC supergene family and plays an important role in...