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Children (Basel, Switzerland) Dec 2023Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an...
Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare DM cases, when presenting with diffuse macules persisting during the first years of life, it could represent a cutaneous feature of mucopolysaccharidoses (MPS). Extensive congenital DM is actually associated with Hurler syndrome (MPS type I) and Hunter syndrome (MPS type II), although several reports also described this association with MPS type VI and other lysosomal storage disorders (LySD), including GM1 gangliosidosis, mucolipidosis, Sandhoff disease, and Niemann-Pick disease. Here, we present the case of a two-year-old boy presenting with extensive dermal melanocytosis, generalized hypertrichosis, and chronic itch, harboring a heterozygous variant of uncertain significance, NM_152419.3: c.493C>T (p.Pro165Ser), in the exon 4 of gene, whose mutations are classically associated with MPS IIIC, also known as Sanfilippo syndrome. This is the first report that highlights the association between extensive congenital DM and MPS type IIIC, as well as a pathogenetic link between heterozygous LySD carrier status and congenital DM. We speculate that some cases of extensive congenital DM could be related to heterozygous LySD carriers, as a manifestation of a mild clinical phenotype.
PubMed: 38136122
DOI: 10.3390/children10121920 -
Journal of Fungi (Basel, Switzerland) Jan 2024Black spot needle blight is a minor disease in Mongolian Scots pine ( var. ) caused by , but it can cause economic losses in severe cases. Sodium pheophorbide a (SPA),...
Black spot needle blight is a minor disease in Mongolian Scots pine ( var. ) caused by , but it can cause economic losses in severe cases. Sodium pheophorbide a (SPA), an intermediate product of the chlorophyll metabolism pathway, is a compound with photoactivated antifungal activity, which has been previously shown to inhibit the growth of . In this study, SPA significantly reduced the incidence and disease index and enhanced the chlorophyll content and antioxidant enzyme activities of var. . To further study the molecular mechanism of the inhibition, we conducted a comparative proteomic analysis of mycelia with and without SPA treatment. The cellular proteins were obtained from mycelial samples and subjected to a tandem mass tag (TMT)-labelling LC-MS/MS analysis. Based on the results of de novo transcriptome assembly, 613 differentially expressed proteins (DEPs) ( < 0.05) were identified, of which 360 were upregulated and 253 downregulated. The 527 annotated DEPs were classified into 50 functional groups according to Gene Ontology and linked to 256 different pathways using the Kyoto Encyclopedia of Genes and Genomes database as a reference. A joint analysis of the transcriptome and proteomics results showed that the top three pathways were Amino acid metabolism, Carbohydrate metabolism, and Lipid metabolism. These results provide new viewpoints into the molecular mechanism of the inhibition of by SPA at the protein level and a theoretical basis for evaluating SPA as an antifungal agent to protect forests.
PubMed: 38392774
DOI: 10.3390/jof10020102 -
The Journal of Dermatology Dec 2020
Topics: Humans; Melanoma; Mongolian Spot; Nevus, Blue; Skin Neoplasms; Tumor Suppressor Proteins; Ubiquitin Thiolesterase
PubMed: 32881031
DOI: 10.1111/1346-8138.15591 -
The Australasian Journal of Dermatology Aug 2020
Topics: Female; Gangliosidosis, GM1; Humans; Infant; Mongolian Spot; Skin Neoplasms
PubMed: 32173853
DOI: 10.1111/ajd.13272 -
Neurological Sciences : Official... Jul 2023
Topics: Humans; Consanguinity; Galactosylceramidase; Leukodystrophy, Globoid Cell; Mongolian Spot; Mutation; Skin Neoplasms
PubMed: 36920572
DOI: 10.1007/s10072-023-06748-2 -
The Journal of Dermatology Oct 2022
Case of a cellular blue nevus with multiple satellite lesions showing radial blue-white lesion: Unique dermoscopy-histopathology correlation in blue nevus with satellitosis.
Topics: Adult; Dermoscopy; Diagnosis, Differential; Humans; Male; Melanoma; Mongolian Spot; Nevus, Blue; Skin Neoplasms
PubMed: 35578740
DOI: 10.1111/1346-8138.16441 -
International Journal of Dermatology Dec 2019
Topics: Female; Humans; Infant, Newborn; Livedo Reticularis; Mongolian Spot; Neurocutaneous Syndromes; Port-Wine Stain; Skin Diseases, Vascular; Telangiectasis
PubMed: 31463930
DOI: 10.1111/ijd.14612