Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

Sheppard, Sarah E.; Smith, Anna; Grand, Katheryn; Pogoriler, Jennifer; Rubin, Adam I.; Schindewolf, Erica; Fitzgerald, Mark P.; Moldenhauer, Julie S.; Laje, Pablo; Peranteau, William H.; Bhoj, Elizabeth; McMahon, Patrick J.; Castelo‐Soccio, Leslie

doi:10.1002/ajmg.a.61490

Cited by 10 publications

(11 citation statements)

References 30 publications

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“…2 ). The somatic mutations of NEK9 identified in the current cases have been previously reported in NC ( 2 , 4 ). The diagnosis of NC was therefore confirmed in both cases.…”

Section: Case Reportssupporting

confidence: 68%

Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp

Tahara

Ishihara²,

Aoki³

et al. 2021

Acta Derm Venereol

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“…2 ). The somatic mutations of NEK9 identified in the current cases have been previously reported in NC ( 2 , 4 ). The diagnosis of NC was therefore confirmed in both cases.…”

Section: Case Reportssupporting

confidence: 68%

Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp

Tahara

Ishihara²,

Aoki³

et al. 2021

Acta Derm Venereol

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“…The p.Thr586del deletion is thought to be a gain‐of‐function mutation. It has recently been reported in another case of NC syndrome with congenital pulmonary airway malformation, 4 absent in our patient. The severe involvement of various organs suggests that the p.Thr586del deletion is embryonic lethal, compatible with cell survival only by mosaicism.…”

Section: Figuresupporting

confidence: 64%

“…Dear Editor , Naevus comedonicus (NC) is a rare type of organoid epidermal naevus with comedones and inflammatory cysts that may be associated with extracutaneous manifestations (cataract; neurological and skeletal anomalies), defining NC syndrome 1 . Acne naevus, a clinically similar mosaic skin condition, is related to the fibroblast growth factor receptor 2 gene ( FGFR2 ), 2 whereas postzygotic mutations in NIMA related kinase 9 ( NEK9 ) have been identified in four patients with NC so far, including only one with NC syndrome 3,4 . Here we report on novel clinical findings, fibrous dysplasia and premature puberty in a case of NC syndrome associated with a NEK9 mutation.…”

Section: Figurementioning

confidence: 99%

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome

Carmignac

Salomon²,

Sévérino-Freire³

et al. 2021

Br J Dermatol

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At last contact, one-fifth of patients (n = 22, 19Á6%) had died. Of these patients, one-quarter received high-intensity EOL care (n = 6, 27%). A substantial proportion of patients died while being treated as inpatients (n = 3, 50%). 4 Almost all hospitalized patients (n = 5, 83%) had CS change from full code to do not resuscitate/do not intubate during their final hospitalization, with changes often executed by HCPs and/or family (n = 4, 80%).Overall survival was negatively associated with both CCI [hazard ratio (HR) 1Á26, 95% confidence interval (CI) 1Á03-1Á54; P = 0Á024] and hospitalization for BP (HR 3Á82, 95% CI 1Á58-9Á27; P = 0Á003). There was no interaction between CCI and hospitalization for BP (HR 0Á70, 95% CI 0Á11-4Á63; P = 0Á712). Among patients with highest quartile CCI (CCI > 6) and hospitalization for BP (n = 10), nearly three-quarters (n = 7, 70%) had died at last healthcare contact (median time from diagnosis to death was 16Á2 months). However, even among high-risk subgroups, ACP was limited, with no significant difference between patients with CCI > 6 and those with lower CCI.In this retrospective study, we characterized ACP-CS among patients with BP. Overall, patients with BP had numerous comorbidities and limited survival. Despite these characteristics, we found limited evidence of ACP-CS documentation from providers, which persisted among the quartile of patients with the highest comorbidity burden and mortality risk. Although we acknowledge the constraints of cross-study comparison, it is notable that ACP documentation among this high-risk subgroup was low relative to rates previously reported in demographically analogous cohorts of healthy adults with less imminent risk of death (21% vs. 33%). 5 Collectively, these findings suggest opportunities to improve ACP-CS and supportive care among patients with BP, a patient group with high symptom burden, substantial comorbidities and heightened mortality risk. Innovations might include a 'trigger model' in which dermatologist documentation of BP diagnosis would 'trigger' closer communication between dermatologists and primary care providers at the time of diagnosis, particularly for patients with high comorbidity index scores, to facilitate timely ACP-CS discussions and appropriate supportive care. 6,7 Despite the limitations of a retrospective, chart-based, single-centre study encompassing a small number of patients, our work provides novel characterization of ACP-CS in patients with BP, highlighting opportunities to improve care.

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“…Follicles contained laminar keratinous debris and were surrounded by varying degrees of inflammatory infiltration. In seven cases, cutaneous hypopigmentation was noticed either within the NC or adjacent to it 7,13,15,21,27,30,32 . Other concomitant skin findings were rare and included cysts, 21,30 café‐au‐lait spots, 21 hypertrichosis within the NC, 26 and hemangioma 31 .…”

Section: Resultsmentioning

confidence: 97%

Nevus comedonicus syndrome: A systematic review of the literature

Torchia

2021

Pediatric Dermatology

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Nevus comedonicus (NC) is an organoid epidermal nevus first identified by Kofmann in 1895. 1 NC is characterized by monomorphic, large, open comedones occurring on a noninflammatory background and following the lines of Blaschko. In 1896, Selhorst described a NC variant featuring giant comedones, nodules, and cysts together with prominent inflammation and scarring. 2 Since then, hundreds of NC cases have been reported. In 1978, Engber framed a syndrome characterized by the association of a NC with extracutaneous abnormalities (NC syndrome [NCS]) based on a case report and review of previously published instances. 3 Given the rarity of NC and NCS, it is difficult to estimate the frequency of NCS. In a retrospective longitudinal study from Mexico comprising more than 400,000 pediatric patients, only five cases of NC were identified (0.84/100,000), of which three had NCS. 4 However, a 2012 review retrieved 349 cases of NC, of which 30 were NCS. 5 Also taking into consideration detection and publication biases, it can be inferred that NCS represents a very small fraction of NC cases. The cause of NC has been proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. 6 Mutations in this gene have been confirmed as the cause of NCS as well. 7 | ME THODSA systematic search of the worldwide literature was carried out using

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Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm

Cited by 10 publications

References 30 publications

Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp

Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp

Mosaic NEK9 mutation, fibrous dysplasia and premature puberty in naevus comedonicus syndrome

Nevus comedonicus syndrome: A systematic review of the literature

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