Mosaic mutations in
            <i>FGFR3</i>
            and
            <i>FGFR2</i>
            are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus)

Larsabal, M.; Cogrel, O.; Caumont, Charline; Jegou, M.‐H.; Taı̈eb, Alain; Morice‐Picard, Fanny

doi:10.1111/bjd.17095

Cited by 11 publications

(16 citation statements)

References 8 publications

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“…Dear Editor , We read with interest the article by Larsabal et al . describing two cases of naevoid acanthosis nigricans (NAN) or RAVEN (rounded and velvety epidermal naevus) associated with mosaic FGFR3 (fibroblast growth factor receptor 3) p.Arg252Asn and FGFR2 p.Ser252Trp mutations, adding to a probable case of RAVEN/NAN with comedones linked to the previously reported FGFR2 p.Ser252Trp mutation .…”

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confidence: 99%

Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations

et al. 2019

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confidence: 99%

Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations

et al. 2019

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“…Little is known about this unusual entity, but AN represents one of its most accessible signs [ 165 ]. Notably, FGFR2 and FGFR3 mutations have been reported in naevoid AN, an exceptionally rare subtype of AN [ 167 , 168 ]. Also, a few case reports identified a mutation of the FGFR3 gene in familial forms of AN, in association with skeletal disorders [ 169 , 170 ].…”

Section: Discussionmentioning

confidence: 99%

Acanthosis Nigricans: Pointer of Endocrine Entities

et al. 2022

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Acanthosis nigricans (AN) has been reported in relation to insulin resistance (IR). We aim to review AN through an endocrine and metabolic perspective focusing on IR in association with metabolic complications such as obesity, diabetes mellitus (DM), and metabolic syndrome (MS) with/without polycystic ovary syndrome (PCOS). We revised English papers on PubMed covering publications from the last 5 years. The current prevalence of AN varies from 4.5 to 74% (or even 100%, depending on the studied population), with equal distribution among females and males. Despite higher incidence with an age-dependent pattern, an alarming escalation of cases has been noted for obesity and MS in younger populations . Most frequent IR-associated sites are the neck, axilla, and knuckles, but unusual locations such as the face have also been reported. Quantitative scales such as Burke have been used to describe the severity of the dermatosis, particularly in correlation with IR elements. Dermoscopic examination are required, for instance, in cases with sulcus cutis, hyperpigmented spots, crista cutis, and papillary projections. A skin biopsy may be necessary, but it is not the rule. Both IR that clinically manifests with or without obesity/MS correlates with AN; most studies are cross-sectional, with only a few longitudinal. The approach varied from screening during school periodic checkups/protocols/programs to subgroups of individuals who were already known to be at high cardio-metabolic risk. AN was associated with type2DM, as well as type 1DM. Females with PCOS may already display metabolic complications in 60–80% of cases, with AN belonging to the associated skin spectrum. AN management depends on underlying conditions, and specific dermatological therapy is not generally required, unless the patient achieves metabolic control, has severe skin lesions, or desires cosmetic improvement. In IR cases, lifestyle interventions can help, including weight control up to bariatric surgery. In addition, metformin is a key player in the field of oral medication against DM type 2, a drug whose indication is extended to PCOS and even to AN itself, outside the specific panel of glucose anomalies. In terms of cosmetic intervention, limited data have been published on melatonin, urea cream, topical retinoids, vitamin D analogs, or alexandrite laser. In conclusion, awareness of IR and its associated clinical features is essential to provide prompt recognition of underlying conditions. AN represents a useful non-invasive surrogate marker of this spectrum in both children and adults. The pivotal role of this dermatosis could massively improve endocrine and metabolic assessments.

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“…Due to these findings, the patient was diagnosed with nevoid AN. This skin disorder, also known as RAVEN (round and velvety epidermal nevus) is a rare entity, which appears at or before puberty [1,2].…”

Section: Case Presentationmentioning

confidence: 99%

“…We found no other reports of RAVEN involving the scalp in the literature. As it is a benign condition, RAVEN requires no treatment or follow-up, and has not been found to be associated with any underlying disorder [1,2].…”

Section: Case Presentationmentioning

confidence: 99%