{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:06:02Z","timestamp":1756339562506,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"2","funder":[{"name":"National Heart, Lung, and Blood Institute of the National Institutes of Health","award":["R38HL143612"],"award-info":[{"award-number":["R38HL143612"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,1,29]]},"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with frequent episodes of a painful, markedly erythematous eruption associated with swelling. Evaluation revealed non-specific findings on skin biopsy at the time of eruption and no pathogenic mutation in the SCN9A gene. The patient was diagnosed with secondary erythromelalgia based on clinical presentation. Erythromelalgia is a rare disorder characterised by recurrent episodes of pain and erythema typically affecting the distal extremities. This case represents the first case of erythromelalgia in the setting of DiGeorge and CHARGE syndromes.<\/jats:p>","DOI":"10.1136\/bcr-2020-239310","type":"journal-article","created":{"date-parts":[[2021,2,18]],"date-time":"2021-02-18T11:06:26Z","timestamp":1613646386000},"page":"e239310","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Painful, reappearing eruption in a medically complex 4-year-old"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3283-3341","authenticated-orcid":false,"given":"Meredith","family":"Sooy","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Duke University, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8009-8209","authenticated-orcid":false,"given":"Rachel L","family":"Randell","sequence":"additional","affiliation":[{"name":"Division of Pediatric Rheumatology, Department of Pediatrics, Duke University, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5649-5880","authenticated-orcid":false,"given":"Dmitry","family":"Tchapyjnikov","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaus","family":"Werner","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7989-1402","authenticated-orcid":false,"given":"Kristina","family":"Nazareth-Pidgeon","sequence":"additional","affiliation":[{"name":"Pediatric Hospitalist Medicine, Department of Pediatrics, Duke University, Durham, North Carolina, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,2,18]]},"reference":[{"key":"2025082710445296000_14.2.e239310.1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1987.04460090087034"},{"key":"2025082710445296000_14.2.e239310.2","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1590\/abd1806-4841.20187535","article-title":"Erythromelalgia: a cutaneous manifestation of neuropathy?","volume":"93","author":"Leroux","year":"2018","journal-title":"An Bras Dermatol"},{"key":"2025082710445296000_14.2.e239310.3","doi-asserted-by":"crossref","first-page":"208","DOI":"10.3889\/oamjms.2018.035","article-title":"Acrocyanosis - A Symptom with Many Facettes","volume":"6","author":"Wollina","year":"2018","journal-title":"Open Access Maced J Med Sci"},{"key":"2025082710445296000_14.2.e239310.4","doi-asserted-by":"crossref","first-page":"3317","DOI":"10.1007\/s10067-019-04745-5","article-title":"Raynaud's phenomenon-an update on diagnosis, classification and management","volume":"38","author":"Pauling","year":"2019","journal-title":"Clin Rheumatol"},{"key":"2025082710445296000_14.2.e239310.5","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.tcm.2017.10.001","article-title":"Fabry disease: review and experience during newborn screening","volume":"28","author":"Hsu","year":"2018","journal-title":"Trends Cardiovasc Med"},{"key":"2025082710445296000_14.2.e239310.6","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/ced.13891","article-title":"Review of primary and secondary erythromelalgia","volume":"44","author":"Mann","year":"2019","journal-title":"Clin Exp Dermatol"},{"key":"2025082710445296000_14.2.e239310.7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012153"},{"key":"2025082710445296000_14.2.e239310.8","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww007"},{"key":"2025082710445296000_14.2.e239310.9","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.jpeds.2018.10.024","article-title":"Pediatric erythromelalgia and SCN9A mutations: systematic review and single-center case series","volume":"206","author":"Arthur","year":"2019","journal-title":"J Pediatr"},{"key":"2025082710445296000_14.2.e239310.10","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1097\/00003086-197910000-00042","article-title":"Erythromelalgia","volume":"144","author":"Thompson","year":"1979","journal-title":"Clin Orthop Relat Res"},{"key":"2025082710445296000_14.2.e239310.11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0161789"},{"key":"2025082710445296000_14.2.e239310.12","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-313804"},{"key":"2025082710445296000_14.2.e239310.13","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1111\/ced.13891","article-title":"Review of primary and secondary erythromelalgia","volume":"44","author":"Mann","year":"2019","journal-title":"Clin Exp Dermatol"},{"key":"2025082710445296000_14.2.e239310.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2011.01.010"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-239310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T17:44:58Z","timestamp":1756316698000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-239310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":14,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2,18]]},"published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1136\/bcr-2020-239310"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-239310","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,2]]}}}