75 research outputs found
Dark homogeneous streak dermoscopic pattern correlating with specific KIT mutations in melanoma
Mutations driving melanoma growth have diagnostic, prognostic, and therapeutic implications. Traditional classification systems do not correlate optimally with underlying melanoma growth-promoting mutations. Our objective was to determine whether unique dermoscopic growth patterns directly correlate with driving mutations. OBSERVATIONS: We evaluated common driving mutations in 4 different dermoscopic patterns (rhomboidal, negative pigmented network, polygonal, and dark homogeneous streaks) of primary cutaneous melanomas; 3 melanomas per pattern were tested. Three of the 4 patterns lacked common mutations in BRAF, NRAS, KIT, GNAQ, and HRAS. One pattern, the dark homogeneous streaks pattern, had unique KIT mutations in the second catalytic domain of KIT in exon 17 for all 3 samples tested. Two tumors with the dark homogeneous streaks pattern turned out to be different primary melanomas from the same patient and had different sequence mutations but had an impact on the same KIT domain. CONCLUSIONS AND RELEVANCE: While future study is required, these results have multiple implications. (1) The underlying melanoma-driving mutations may give rise to specific dermoscopic growth patterns, (2) BRAF/NRAS mutations in early melanomas may not be as common as previously thought, and (3) patients may be predisposed to developing specific driving mutations giving rise to melanomas or nevi of similar growth patterns
Subcutaneous (deep) fungal infections
Fungal infection is a common clinical problem in dermatology. While most cases in practice are superficial infections, invasive subcutaneous mycoses are important to recognize and treat, as these conditions often have significant morbidity and mortality. Deep fungi demonstrate species-specific syndromes and may be identified by clinical and histological features in addition to serological evaluation and culture. Identification of the common innoculation subcutaneous mycoses, as well as those associated with pulmonary primary infection and dissemination to the skin is important, as treatments vary by organism and clinical setting. This overview will help to identify the key dermatological presentations of subcutaneous fungal infection, and the clues they give to cause
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Ant, Bee, and Wasp Stings
Cutaneous reactions to stinging insects are common and potentially serious conditions which may be presented to the dermatologist or primary care physician. Appropriate examination and history taking are critical to the evaluation of the patient. Principles of diagnosis of these events are discussed, and appropriate therapy is considered
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Congenital Midline Hamartoma: Case Report with Histochemical and Immunohistochemical Findings
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Ivermectin
Ivermectin is a potent antiparasitic drug and the first commercially available member of a new class of drugs (macrocyclic lactones) that has been approved for human use. Ivermectin has already proven to be highly effective in the elimination of river blindness as a public health burden. Side effects have been minor, and patient acceptance is good. Promising results in off-label applications for ectoparasitic infestations are increasingly important as resistance to topical therapy becomes more prevalent Ivermectin represents an advance in the therapeutic armamentarium and should be considered in appropriate cases
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Pyoderma gangrenosum–like facial ulcers in a woman associated with cocaine use and cANCA/anti-PR3+, pANCA/anti-MPO– serology
Cloning of the 5' mRNA for the 230-kD Bullous Pemphigoid Antigen by Rapid Amplification of cDNA Ends
The 230-kD bullous pemphigoid antigen (BPAG1), defined by autoantibodies in patient sera, is a hemidesmosomal plaque protein in the same gene family as the intracellular proteins desmoplakin I/II and plectin. We had previously isolated, from a λgt11 library, overlapping cDNA clones with 6921 bp of mRNA sequence for BPAG1. The coding sequence encoded by these clones included the 3' stop codon but not the 5' coding and non-coding region of the mRNA. To obtain these sequences we used the polymerase chain reaction (PCR) method called rapid amplification of cDNA ends (RACE). The PCR products were cloned into plasmids and sequenced. With five PCR primers we were able to obtain overlapping clones containing the 5' region of the mRNA. An upstream stop codon in frame with the rest of the coding sequence demonstrates that the full 5' coding sequence is obtained. Four different PCR products from two separate reactions had the same 5' end, suggesting that this 5' end is near, or at, the transcription start site. No alternatively spliced clones were found and no transmembrane site was predicted, confirming that BPAG1 is an intracellular hemin-desmosomal plaque protein
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