{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:21:52Z","timestamp":1747149712164,"version":"3.40.5"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T00:00:00Z","timestamp":1631664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a detailed clinical examination in a patient with primary coenzyme Q<jats:sub>10<\/jats:sub> deficiency caused by biallelic mutations in the <jats:italic>PDSS1<\/jats:italic> gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo reticularis and particularly, chronic distal phalangeal erythema. Laboratory testing showed elevated plasma lactate and 3\u2010methyl\u2010glutaconic and tricarboxylic aciduria. Supplementation with high dose of coenzyme Q<jats:sub>10<\/jats:sub> was not effective to control disease progression and the patient died at the age of 3\u2009years old because of a progressive multisystem disorder. Cutaneous involvement in mitochondrial disease is heterogenous, including proliferative, inflammatory, and dystrophic changes among others. The coexistence in our case of phalangeal erythema, livedo reticularis, and pulmonary hypertension suggests microvascular dysfunction as a possible underlying mechanism. This is the first reported patient with <jats:italic>PDSS1<\/jats:italic> mutations presenting with 3\u2010methyl\u2010glutaconic aciduria and distal phalangeal erythema, expanding the phenotype of primary coenzyme Q<jats:sub>10<\/jats:sub> deficiency.<\/jats:p>","DOI":"10.1002\/jmd2.12216","type":"journal-article","created":{"date-parts":[[2021,9,15]],"date-time":"2021-09-15T10:55:33Z","timestamp":1631703333000},"page":"3-5","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Distal phalangeal erythema in an infant with biallelic <scp><i>PDSS1<\/i><\/scp> mutations: Expanding the phenotype of primary Coenzyme <scp>Q<sub>10<\/sub><\/scp> deficiency"],"prefix":"10.1002","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0498-9787","authenticated-orcid":false,"given":"Marcello","family":"Bellusci","sequence":"first","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, MetabERN Center \u201c12 de Octubre\u201d University Hospital  Madrid Spain"},{"name":"Mitochondrial &amp; Neuromuscular Disorders Research Group, Instituto de Investigaci\u00f3n Sanitaria \u201c12 de Octubre\u201d (imas12)  Madrid Spain"},{"name":"Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Garc\u00eda\u2010Silva","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Disorders, MetabERN Center \u201c12 de Octubre\u201d University Hospital  Madrid Spain"},{"name":"Mitochondrial &amp; Neuromuscular Disorders Research Group, Instituto de Investigaci\u00f3n Sanitaria \u201c12 de Octubre\u201d (imas12)  Madrid Spain"},{"name":"Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Mart\u00ednez de Arag\u00f3n","sequence":"additional","affiliation":[{"name":"Pediatric Neuroradiology \u201c12 de Octubre\u201d University Hospital  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel Angel","family":"Mart\u00edn","sequence":"additional","affiliation":[{"name":"Mitochondrial &amp; Neuromuscular Disorders Research Group, Instituto de Investigaci\u00f3n Sanitaria \u201c12 de Octubre\u201d (imas12)  Madrid Spain"},{"name":"Spanish Biomedical Research Networking Center in Rare Diseases (CIBERER)  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm8111811"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-020-2649-z"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12484"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.2.428"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/EBC20170107"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI29089"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.12.023"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121240"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12216","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12216","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T06:06:37Z","timestamp":1693202797000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,15]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/jmd2.12216"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12216","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2021,9,15]]},"assertion":[{"value":"2021-02-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}