scholarly journals Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies

2021 ◽  
Vol 14 (9) ◽  
pp. 905
Author(s):  
Cristina Membrive Jiménez ◽  
Cristina Pérez Ramírez ◽  
Almudena Sánchez Martín ◽  
Sayleth Vieira Maroun ◽  
Salvador Arias Santiago ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Actinic Keratosis ◽  
Hidradenitis Suppurativa ◽  
Dermatitis Herpetiformis ◽  
Acne Vulgaris ◽  
The United States ◽  
Severe Toxicity

Dermatologic pathologies are the fourth most common cause of non-fatal disease worldwide; however, they produce a psychosocial, economic, and occupational impact equal to or greater than other chronic conditions. The most prevalent are actinic keratosis, followed by basal-cell carcinoma, in a lesser proportion acne vulgaris, psoriasis, and hidradenitis suppurativa, among others, and more rarely dermatitis herpetiformis. To treat actinic keratosis and basal-cell carcinoma, 5-fluorouracil (5-FU) 0.5% is administered topically with good results, although in certain patients it produces severe toxicity. On the other hand, dapsone is a drug commonly used in inflammatory skin conditions such as dermatitis herpetiformis; however, it occasionally causes hemolytic anemia. Additionally, biologic drugs indicated for the treatment of moderate-to-severe psoriasis and hidradenitis suppurativa have proved to be effective and safe; nevertheless, a small percentage of patients do not respond to treatment with biologics in the long term or they are ineffective. This interindividual variability in response may be due to alterations in genes that encode proteins involved in the pathologic environment of the disease or the mechanism of action of the medication. Pharmacogenetics studies the relationship between genetic variations and drug response, which is useful for the early identification of non-responsive patients and those with a higher risk of developing toxicity upon treatment. This review describes the pharmacogenetic recommendations with the strongest evidence at present for the treatments used in dermatology, highlighting those included in clinical practice guides. Currently, we could only find pharmacogenetic clinical guidelines for 5-FU. However, the summary of product characteristics for dapsone contains a pharmacogenetic recommendation from the United States Food and Drug Administration. Finally, there is an enormous amount of information from pharmacogenetic studies in patients with dermatologic pathologies (mainly psoriasis) treated with biologic therapies, but they need to be validated in order to be included in clinical practice guides.

scholarly journals Basal cell carcinoma mistaken for actinic keratosis

2006 ◽  
Vol 89 (3) ◽  
pp. 171-175 ◽  
Author(s):  
Robert J Jacobs ◽  
Geraint Phillips
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Actinic Keratosis

scholarly journals Colonisation of basal cell carcinoma and actinic keratosis by malignant melanoma in situ in a patient with xeroderma pigmentosum variant

2012 ◽  
Vol 2 (2) ◽  
pp. 47 ◽  
Author(s):  
Louise J. Smith ◽  
Ehab A. Husain
Keyword(s):  
Malignant Melanoma ◽  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Actinic Keratosis ◽  
Xeroderma Pigmentosum ◽  
Clinical Impression ◽  
Anatomical Site ◽  
History Of

Although malignant melanoma (MM) and both basal cell carcinoma (BCC) and actinic keratosis (AK) are sun-induced lesions, the coexistence of these entities at the same anatomical site (collision tumour) is exceedingly rare. We report the case of a 54-year-old woman with a known history of xeroderma pigmentosum variant (XPV) who presented with 2 separate skin lesions over the middle and upper right forearm, respectively. The clinical impression was that of BCCs or squamous cell lesions. On histological examination, both specimens showed features of melanoma <em>in situ </em>(MIS). In the first lesion, MIS merged with and colonised a superficial and focally invasive BCC. In the second lesion, MIS merged with an AK. No separate invasive nests of malignant melanoma were seen in either specimen. The atypical melanocytes were highlighted by Melan-A and HMB-45 immunostaining, whereas the epithelial cells in both the BCC and AK stained with the pancytokeratin MNF-116. The patient had a previous history of multiple MMs and non-melanomatous skin cancers and finally developed widespread metastatic malignant melanoma, which proved fatal. The rare and interesting phenomenon of collision tumours may pose diagnostic difficulties. To our knowledge, this is the first reported simultaneous presentation of cytologically malignant collision tumours in a patient with XPV.

Management of basal cell carcinoma in the United States: Can we simplify care and reduce cost?

2014 ◽  
Vol 32 (30_suppl) ◽  
pp. 17-17
Author(s):  
Xinyuan Wu ◽  
Elena B. Elkin ◽  
Jason Chih-Shan Chen ◽  
Ashfaq A. Marghoob
Keyword(s):  
Basal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Basal Cell ◽  
Average Cost ◽  
The United States ◽  
Model Parameters ◽  
Traditional Management ◽  
Pre Treatment ◽  
Total Average Cost ◽  
Total Average

17 Background: Basal cell carcinoma (BCC) is the most common cancer in the US, affecting more than 3 million people every year, and the incidence of BCC is increasing. Traditional management of BCC involves multiple physician visits and a pre-treatment biopsy which may be unnecessary. We assessed the costs of treating BCC, comparing traditional management with a simplified scheme. Methods: We developed a decision analytic model to compare the costs of traditional BCC management with a simplified Detect and Treat (DAT) scheme that eliminates pre-treatment biopsy. We assumed that all patients had an unequivocal BCC diagnosis based on clinical and dermoscopic findings. In the traditional approach, all patients had a biopsy prior to treatment. In the DAT scheme, well delineated lesions ≤1cm in diameter on the trunk and extremities were treated with shave removal and Mohs indicated lesions were referred to Mohs for on-site histologic check, both eliminating pre-treatment biopsy. Distributions of lesion location, size and treatment modality, and estimates of clinical diagnostic accuracy and success of shave removal were from the literature and from an analysis of 240 consecutive BCC cases seen over 5 years at our institution. Costs were based on assumptions about the number of dermatologist visits, tests and procedures required for each strategy, and unit prices from the 2014 Medicare physician fee schedule. Results: The average cost per case in the DAT scheme was $449 for non-Mohs-indicated lesions and $819 for Mohs-indicated lesions, compared with $566 and $864, respectively, with traditional management. DAT was associated with a savings of $117 (21% of total average cost) per non-Mohs-indicated case and $45 (5% of total average cost) per Mohs-indicated case. The combined weighted average savings per case was $95 (15% of total average cost). The magnitude of savings varied with changes in model parameters, but conclusions were similar under a wide range of plausible scenarios. Conclusions: A simplified management strategy that avoids routine pre-treatment biopsy can reduce the cost of treating BCC without compromising quality of care.

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