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

J Dtsch Dermatol Ges. 2022 Aug;20(8):1133-1136. doi: 10.1111/ddg.14786. Epub 2022 Jun 14.

Authors

Vincenzo Maione¹, Simone Soglia¹, Laura Miccio¹, Piergiacomo Calzavara-Pinton^{1

2}, Angela Napolitano³, Valeria Cinquina⁴, Marco Ritelli⁴, Marina Colombi⁴

Affiliations

¹ Division of Dermatology, ASST Spedali Civili di Brescia, Brescia, Italy.
² Division of Dermatology, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
³ Division of Radiology, ASST Papa Giovanni XIII, Bergamo, Italy.
⁴ Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

PMID: 35698861
DOI: 10.1111/ddg.14786

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Humans
Mutation / genetics
Neurocutaneous Syndromes* / diagnosis
Neurocutaneous Syndromes* / genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11

Substances

PTPN11 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 11

Supplementary concepts

Phacomatosis pigmentovascularis