In recent years, numerous dermatological image databases have been published to make possible the development and validation of artificial intelligence-based technologies to support healthcare professionals in the diagnosis of skin diseases. However, the generation of these datasets confined to certain countries as well as the lack of demographic information accompanying the images, prevents having a real knowledge of in which populations these models could be used. Consequently, this hinders the translation of the models to the clinical setting. This has led the scientific community to encourage the detailed and transparent reporting of the databases used for artificial intelligence developments, as well as to promote the formation of genuinely international databases that can be representative of the world population. Through this work, we seek to provide details of the processing stages of the first public database of dermoscopy and clinical images created in a hospital in Argentina. The dataset comprises 1,616 images corresponding to 1,246 unique lesions collected from 623 patients.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCC), mainly caused by PTCH1 gene mutations. Our current study aimed to establish (1) PTCH1 germinal and somatic mutational status, (2) component and Hedgehog (HH) pathway targets gene expression patterns, and (3) profile variations according to the genetic background in BCC and normal surrounding skin (NSS). We collected 23 blood and 20 BCC patient samples and analyzed the PTCH1 gene using bidirectional sequencing and multiplex ligation-dependent probe amplification. Quantitative PCR was used to determine the mRNA expression levels of PTCH1, SMO, GLI3, and CCND1 in paired samples of BCC and NSS from 20 patients and four non-NBCCS skin controls (C). Our analyses identified 12 germline and five somatic sequence variants in PTCH1. mRNA levels of PTCH1, SMO, and GLI3 were higher in NSS compared to C samples, reaching maximum values in BCC samples (p < 0.05). NSS with PTCH1 germline mutations had modified SMO, PTCH1, and GLI3 mRNA levels compared to samples without mutation (p < 0.01). Two PTCH1 mutations in BCC led to an increase in PTCH1, SMO, and GLI3, and a decrease in CCND1 mRNA levels (p < 0.01 vs. BCC with germline mutation only). These results indicate that besides PTCH1, other genes are responsible for NBCCS and BCC development in a population exposed to high UV radiation. Additionally, the mutational events caused increased expression of HH-related genes, even in phenotypically normal skin.

Hand, foot, and mouth disease is a viral rickettsial disease caused by Coxsackievirus A16 and Enterovirus 71 in most cases. It is commonly seen in children under ten years old, who present oral enanthema and a macular, maculopapular, or vesicular rash on their hands and feet. However, an increase in cases caused by other viral serotypes was observed in adults in recent years with various clinical presentations and a troublesome diagnosis. Three cases of hand, foot, and mouth disease are reported to show the clinical variability and diagnostic complexity that this disease may present in adult patients.