Café au lait macules overlying segmental macular hyperpigmentation in a paediatric patient: an early sign for mosaic neurofibromatosis type 1

Zhang, J.; Qin, Weibing; Shen, Hua; Li, M.; Tang, Yunge; Yao, Zhenwei

doi:10.1111/bjd.19659

Cited by 2 publications

(2 citation statements)

References 8 publications

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“…The TIANamp Blood DNA Kit (TianGen BioChemical Co., Ltd., Beijing, China) was used to extract genomic DNA from the patient's skin biopsies, blood samples and hair follicles according to the manufacturer's instructions. Next‐generation sequencing(NGS) based on a custom enrichment kit, including a total of 438 genes associated with genodermatosis, was performed as our previous study described 6,7 . The gene list is available on request.…”

Section: Methodsmentioning

confidence: 99%

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: Methodsmentioning

confidence: 99%

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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“…Sanger sequencing or NGS based on a custom enrichment kit was performed to identify the pathogenic mutation as previously described. 5,6 Genetic tests showed that NF1 mutation rate was 100% in 38 paediatric patients with the halo-like phenomenon. Moreover, genetic analysis revealed the absence of pathogenic NF1 mutations among 15 normal subjects with isolated CALMs over Mongolian spots.…”

Section: Halo-like Phenomenon In Neurofibromatosis Type 1: a Potentia...mentioning

confidence: 99%

Halo‐like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion

Zhang

Shen

et al. 2022

Acad Dermatol Venereol

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Café au lait macules overlying segmental macular hyperpigmentation in a paediatric patient: an early sign for mosaic neurofibromatosis type 1

Abstract: DEAR EDITOR, The presentation of multiple caf e au lait macules (CALMs) in children is a common reason for referral to a dermatologist. Segmental CALMs, a subtype of CALMs, are usually limited to a specific part of the body. Mosaic neurofibromatosis type 1 (NF1; OMIM #162200) is a common

Cited by 2 publications

References 8 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

Halo‐like phenomenon in neurofibromatosis type 1: A potential new diagnostic criterion

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