Phacomatosis pigmentovascularis spilorosea and mutation in the <i>PTPN11</i> gene: new case with significant neurologic impairment

Maione, Vincenzo; Soglia, Simone; Miccio, Laura; Calzavara‐Pinton, Piergiacomo; Napolitano, Angela; Cinquina, Valeria; Ritelli, Marco; Colombi, Marina

doi:10.1111/ddg.14786

Cited by 2 publications

(10 citation statements)

References 6 publications

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“…10 The nevi in classic NS cases have a different genetic basis and may therefore have a distinct MNS and nevus roseus (a capillary malformation). 12 The central nervous, the eye and the skeleton are the most frequently affected systems. PS was recently reported to be caused by somatic mutations in the PTPN11 gene in several cases.…”

Section: Resultsmentioning

confidence: 99%

“…PS was recently reported to be caused by somatic mutations in the PTPN11 gene in several cases. 12 Speckled lentiginous naevus (SLN) syndrome was once considered synonymous with PNS syndrome; however, it usually presented with MNS. A recent report revealed that mosaic mutations in PTPN11 were responsible for SLN syndrome, sharing the same molecular basis as PS and MNS.…”

Section: Resultsmentioning

confidence: 99%

“…The main difference is the absence of a nevus sebaceous 11 . Phacomatosis spilorosea (PS; formerly called phacomatosis pigmentovascularis type III) is another rare condition characterized by the combination of segmental MNS and nevus roseus (a capillary malformation) 12 . The central nervous, the eye and the skeleton are the most frequently affected systems.…”

Section: Discussionmentioning

confidence: 99%

“…The central nervous, the eye and the skeleton are the most frequently affected systems. PS was recently reported to be caused by somatic mutations in the PTPN11 gene in several cases 12 . Speckled lentiginous naevus (SLN) syndrome was once considered synonymous with PNS syndrome; however, it usually presented with MNS.…”

Section: Discussionmentioning

confidence: 99%

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Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Zhang,

Xu,

Deng

2023

Clinical Genetics

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Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next‐generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Zhang,

Xu,

Deng

2023

Clinical Genetics

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“…Furthermore, two studies reporting PTPN11 somatic variants in PPV spilorosea type, a subtype clinically distinguished from subtypes caused by GNAQ/GNA11 variants, were also excluded. 22,23 The clinical characteristics, including facial CM, ocular melanocytosis, glaucoma, neurological abnormalities, and overgrowth, of patients carrying GNAQ/GNA11 mosaic variants in previous and present studies were extracted and tabulated (Table S1). In total, there were 15 PPV patients with a GNA11 somatic variant and 10 with a GNAQ mosaic variant (Table 3).…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

Zhang,

He,

et al. 2024

Pediatric Investigation

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ImportancePostzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.ObjectiveTo identify pathogenic mutations in pediatric patients with PPV within the Chinese population.MethodsWe performed whole‐exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep‐targeted sequencing was conducted to validate the somatic mutations. A genotype‐phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.ResultsThirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype‐phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant.InterpretationOur study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.

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Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment

Cited by 2 publications

References 6 publications

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Genetic and phenotypic diversities of nevus spilus phenotypes: Case series and a proposed diagnostic algorithm

Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

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