Multiple Café au Lait Spots in a Group of Fair‐Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1

John, Jessica St.; Summe, Heather S.; Csikesz, Courtney; Wiss, K; Hay, Beverly N.; Belazarian, Leah

doi:10.1111/pde.12936

Cited by 6 publications

(2 citation statements)

References 20 publications

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“…Finally, there are individuals who have fair complexion with up to 6 lightly pigmented, irregularly marginated CALMs who may have a pigmentary dysplasia unrelated to an underlying medical condition. 7 There are families in which individuals have typical multiple CALMs inherited as an autosomal dominant trait with no other manifestations of NF1. Some of these…”

Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Health Supervision for Children With Neurofibromatosis Type 1

et al. 2019

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Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected. Health Supervision for Children With Neurofibromatosis Type 1http://pediatrics.aappublications.org/content/143/5/e20190660 located on the World Wide Web at:The online version of this article, along with updated information and services, is by the

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Section: Diagnosis and Differential Diagnosismentioning

confidence: 99%

Health Supervision for Children With Neurofibromatosis Type 1

et al. 2019

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“…CALMs are flat, well-circumscribed light-to-dark brown macules or patches on the skin; however, the lesions can vary in pigmentation. CALMs can be divided into typical and atypical CAL spots based on number, morphology, and pigmentation ( Fois et al, 1993 ; Nunley et al, 2009 ; Riccardi, 2009 ; St John et al, 2016 ; Albaghdadi et al, 2022 ). Typical CALMs are described as round and smooth with a size of 5 mm–15 cm, and their pigmentation is even and uniform.…”

Section: Discussionmentioning

confidence: 99%

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules

et al. 2023

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Background: Café-au-lait macules (CALMs) are common birthmarks associated with several genetic syndromes, such as neurofibromatosis type 1 (NF1). Isolated CALMs are defined as multiple café-au-lait macules in patients without any other sign of NF1. Typical CALMs can have predictive significance for NF1, and non-invasive techniques can provide more accurate results for judging whether café-au-lait spots are typical.Objectives: The study aimed to investigate gene mutations in six Chinese Han pedigrees of isolated CALMs and summarize the characteristics of CALMs under dermoscopy and reflectance confocal microscopy (RCM).Methods: In this study, we used Sanger sequencing to test for genetic mutations in six families and whole exome sequencing (WES) in two families. We used dermoscopy and RCM to describe the imaging characteristics of CALMs.Results: In this study, we tested six families for genetic mutations, and two mutations were identified as novel mutations. The first family identified [NC_000017.11(NM_001042492.2):c.7355G>A]. The second family identified [NC_000017.11(NM_001042492.2):c.2739_2740del]. According to genotype-phenotype correlation analyses, proband with frameshift mutation tended to have a larger number of CALMs and a higher rate of having atypical CALMs. Dermoscopy showed uniform and consistent tan-pigmented network patches with poorly defined margins with a lighter color around the hair follicles. Under RCM, the appearance of NF1 comprised the increased pigment granules in the basal layer and significantly increased refraction.Conclusion: A new heterozygous mutation and a new frameshift mutation of NF1 were reported. This article can assist in summarizing the properties of dermoscopy and RCM with CALMs.

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Hyperpigmentation with Café-au-Lait Spots or Lentigines

Tan

Zhu

2023

Atlas of Pigmentary Skin Disorders

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Multiple Café au Lait Spots in a Group of Fair‐Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1

Cited by 6 publications

References 20 publications

Health Supervision for Children With Neurofibromatosis Type 1

Health Supervision for Children With Neurofibromatosis Type 1

Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules

Hyperpigmentation with Café-au-Lait Spots or Lentigines

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