Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report
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 pe...
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MDPI AG
2023-12-01
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| author | Maurizio Romagnuolo Chiara Moltrasio Serena Gasperini Angelo Valerio Marzano Stefano Cambiaghi |
| author_facet | Maurizio Romagnuolo Chiara Moltrasio Serena Gasperini Angelo Valerio Marzano Stefano Cambiaghi |
| author_sort | Maurizio Romagnuolo |
| collection | DOAJ |
| description | 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 <i>HGSNAT</i> 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. |
| first_indexed | 2024-03-08T20:54:11Z |
| format | Article |
| id | doaj.art-dd5af13e097145ac863003d2497cfd75 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-08T20:54:11Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-dd5af13e097145ac863003d2497cfd752023-12-22T14:00:30ZengMDPI AGChildren2227-90672023-12-011012192010.3390/children10121920Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case ReportMaurizio Romagnuolo0Chiara Moltrasio1Serena Gasperini2Angelo Valerio Marzano3Stefano Cambiaghi4Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, ItalyDermatology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyDepartment of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, ItalyDepartment of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milan, ItalyPediatric Dermatology Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, 20122 Milan, ItalyCongenital 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 <i>HGSNAT</i> 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.https://www.mdpi.com/2227-9067/10/12/1920congenital dermal melanocytosisMongolian spotitchhypertrichosismucopolysaccharidosis type IIICSanfilippo syndrome |
| spellingShingle | Maurizio Romagnuolo Chiara Moltrasio Serena Gasperini Angelo Valerio Marzano Stefano Cambiaghi Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report Children congenital dermal melanocytosis Mongolian spot itch hypertrichosis mucopolysaccharidosis type IIIC Sanfilippo syndrome |
| title | Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report |
| title_full | Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report |
| title_fullStr | Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report |
| title_full_unstemmed | Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report |
| title_short | Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report |
| title_sort | extensive and persistent dermal melanocytosis in a male carrier of mucopolysaccharidosis type iiic sanfilippo syndrome a case report |
| topic | congenital dermal melanocytosis Mongolian spot itch hypertrichosis mucopolysaccharidosis type IIIC Sanfilippo syndrome |
| url | https://www.mdpi.com/2227-9067/10/12/1920 |
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