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Application of topical gentamicin—a new era in the treatment of genodermatosis
BackgroundThe clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic. However, in the past...
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Genodermatoses – Opportunities for Early Detection and Cancer Prevention
Purpose of ReviewThis review describes the clinical features of the major adult-onset genodermatosis-associated hereditary cancer predisposition...
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Skin cancer-associated genodermatoses in skin of color patients: a review
Skin cancers are associated with a large number of genodermatoses. Existing knowledge and guidelines on the presentations of these genodermatoses...
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Acquired epidermodysplasia verruciformis syndrome in HIV-infected patients: a systematic review
Congenital epidermodysplasia verruciformis (CEV) is a Genodermatosis linked to different inheritance patterns and mutations of the EVER1/TMC6 and...
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Involvement of Kindlin-1 in cutaneous squamous cell carcinoma
Kindler syndrome (KS) is a rare genodermatosis resulting from loss-of-function mutations in FERMT1 , the gene that encodes Kindlin-1. KS patients have...
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Review of the Latest Methods of Epidermolysis Bullosa and Other Chronic Wounds Treatment Including BIOOPA Dressing
Epidermolysis bullosa (EB) is a hereditary genetic skin disorder, classified as a type of genodermatosis, which causes severe, chronic skin blisters...
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Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family
BackgroundSevere dermatitis, multiple allergies and metabolic wasting (SAM) syndrome comprise a rare genodermatosis associated with biallelic...
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Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes
The initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable...
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Non-familial White Sponge Nevus, an Innocuous yet Clinically Significant Entity: Report of a Case with Review of the Literature
White sponge nevus (WSN) is a hereditary mucosal defect that primarily affects the oral mucosa, presenting with asymptomatic velvety, corrugated...
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Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder
IntroductionSLC29A3 spectrum disorder is an autosomal, recessively inherited, autoinflammatory, multisystem disorder characterized by distinctive...
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Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa
Non-Herlitz junctional epidermolysis bullosa (JEB-nH), an autosomal recessive bullous genodermatosis, is characterized by generalized skin blistering...
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Xeroderma Pigmentosum with a Rapidly Proliferating Squamous Cell Carcinoma in a 4-Year Old Kid: A Rare Entity in Indian Subcontinent
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder, affecting nucleotide excision repair against ultraviolet radiation. This...
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Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists
Dyskeratosis congenita (DC) is a telomeropathy presenting diagnostic and therapeutic challenges across multiple specialties; yet, subtle...
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Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review
BackgroundHereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine...
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Seventeen primary malignant neoplasms involving the skin, ovary, esophagus, colon, oral cavity, and ear canal: a case report and review of the literature
Multiple primary malignant neoplasm (MPMN) is a rare disease with two or more malignant neoplasms in one patient. In less than 0.1% of cancer...
