The first case of Chinese phacomatosis pigmentokeratotica diagnosed by a missense HRAS mosaicism.
J Dermatol
; 49(9): 921-924, 2022 Sep.
Article
em En
| MEDLINE
| ID: mdl-35567308
ABSTRACT
Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus (EN) syndrome, featured by co-occurrence of speckled lentiginous nevus (SLN) and nevus sebaceous (NS). The underlying mechanism has not been clarified. Pathogenic mutations in HRAS, KRAS and BRAF gene are recently recognized as the genetic cause of PPK. Here we present a case of Chinese PPK with a mosaic mutation in HRAS gene. Physical examination of the 4-year-old male proband showed NS locating on the scalp, with EN and SLN on trunk and extremities. Except congenital fundus vascular tortuosity, no evidence of extracutaneous abnormalities was found in this case. A rare heterozygous missense c. 181 C>A mosaic mutation in HRAS was identified in samples from NS, EN and pigmented nevus using next-generation sequencing and Sanger sequencing. Meanwhile, no mutation was found in the non-lesion skin, hair follicle, or blood DNA. Recent breakthrough in clinical manifestation, genetic mutation and prognosis of PPK is also reviewed.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Nevo Sebáceo de Jadassohn
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Nevo
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Nevo Pigmentado
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Child, preschool
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Humans
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Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article