Coexistence of Congenital Giant Melanocytic Nevus of the Scalp with Cranial Defect, Poliosis, and Hair Loss

Lee, Woo Jung; Lee, Sang M.; Won, Chong Hyun; Chang, Sung Eun; Lee, Mi W; Choi, Jee Ho; Moon, Kee Chan

doi:10.1111/pde.12101

Cited by 5 publications

(7 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…While both are typically limited to the skin, in rare syndromic forms including epidermal nevus syndrome (ENS), they can be accompanied by abnormalities in other organ systems, including the eyes, brain and bone (5 -8). The additional systemic abnormalities almost exclusively occur in the setting of extensive skin surface area involvement, consistent with early embryonic somatic mutation in a multipotent progenitor (6)(7)(8). Since somatic mutations can occur at any point postfertilization, timing determines the relative potential of the affected cell (9,10).…”

mentioning

confidence: 98%

“…EN, nevus comedonicus and giant CMN have been found in association with precocious puberty, cognitive dysfunction, arterial stenosis and skeletal malformations (7,(13)(14)(15). Depending on the combination of cutaneous lesions and associated abnormalities, various nomenclatures such as Schimmelpenning -Feuerstein -Mims syndrome (16,17), Becker's nevus syndrome (18) and ENS have been applied, but these disorders have significant clinical overlap, suggesting a common pathogenesis.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Lim¹,

Ovejero

Sugarman

et al. 2013

Human Molecular Genetics

114

View full text Add to dashboard Cite

Pathologically elevated serum levels of fibroblast growth factor-23 (FGF23), a bone-derived hormone that regulates phosphorus homeostasis, result in renal phosphate wasting and lead to rickets or osteomalacia. Rarely, elevated serum FGF23 levels are found in association with mosaic cutaneous disorders that affect large proportions of the skin and appear in patterns corresponding to the migration of ectodermal progenitors. The cause and source of elevated serum FGF23 is unknown. In those conditions, such as epidermal and large congenital melanocytic nevi, skin lesions are variably associated with other abnormalities in the eye, brain and vasculature. The wide distribution of involved tissues and the appearance of multiple segmental skin and bone lesions suggest that these conditions result from early embryonic somatic mutations. We report five such cases with elevated serum FGF23 and bone lesions, four with large epidermal nevi and one with a giant congenital melanocytic nevus. Exome sequencing of blood and affected skin tissue identified somatic activating mutations of HRAS or NRAS in each case without recurrent secondary mutation, and we further found that the same mutation is present in dysplastic bone. Our finding of somatic activating RAS mutation in bone, the endogenous source of FGF23, provides the first evidence that elevated serum FGF23 levels, hypophosphatemia and osteomalacia are associated with pathologic Ras activation and may provide insight in the heretofore limited understanding of the regulation of FGF23.

show abstract

mentioning

confidence: 98%

mentioning

confidence: 99%

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Lim¹,

Ovejero

Sugarman

et al. 2013

Human Molecular Genetics

114

View full text Add to dashboard Cite

show abstract

“…This is the third report in the literature describing the coexistence of GCMN and poliosis [1,2]. In 1999 Yosipovitch et al presented a patient with GCMN with poliosis [1] Further case reports will allow the pathogenesis of the association between GCMN and poliosis to be better understood.…”

Section: Discussionmentioning

confidence: 84%

Giant Congenital Melanocytic Nevi and Poliosis in a 3-Day-Old Boy: Is it Just a Coincidence?

Yorulmaz¹,

Akbaş²

2022

Dermatol Pract Concept

View full text Add to dashboard Cite

“…24 Several case reports also present this unique combination in specific patients. 25,26 However, none of our patients had any history of these syndromes or the constellation of symptoms associated with them.…”

Section: Nevi and Scoliosismentioning

confidence: 81%

Can Tissue Expansion Reconstruction in the Trunk of Children Increase the Risk of Scoliosis?

et al. 2020

View full text Add to dashboard Cite

Introduction: We hypothesize that treatment of significant truncal lesions with truncal tissue expanders and subsequent flap surgery in pediatric patients may increase the risk of scoliosis. This study aims to investigate any relationship between tissue expansion (TE) and scoliosis and to compare the prevalence of scoliosis in our tissue expander population to the general population. Methods: Health records of patients who underwent truncal TE at BC Children’s Hospital between 1997 and 2017 were retrospectively reviewed and analyzed. The cross-sectional component of the study consisted of radiological imaging to establish the presence or absence of scoliosis. Results: We identified 28 patients who underwent truncal TE over the study period. Ten had a scoliosis X-ray on their chart or as a part of the study. Three (10.7%) patients were identified as having developed scoliosis after TE. Conclusions: We recommend that pediatric TE patients be made aware of the potential complication of scoliosis and be followed closely in the years during and after their treatment, in order to allow for preventative measures, early diagnosis and early management (if required).

show abstract

Coexistence of Congenital Giant Melanocytic Nevus of the Scalp with Cranial Defect, Poliosis, and Hair Loss

Cited by 5 publications

References 5 publications

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Giant Congenital Melanocytic Nevi and Poliosis in a 3-Day-Old Boy: Is it Just a Coincidence?

Can Tissue Expansion Reconstruction in the Trunk of Children Increase the Risk of Scoliosis?

Contact Info

Product

Resources

About