Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency

Abstract We report a detailed clinical examination in a patient with primary coenzyme Q10 deficiency caused by biallelic mutations in the PDSS1 gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo reticularis and particularly, chronic di...

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Autores principales:	Marcello Bellusci, Maria Teresa García‐Silva, Ana Martínez de Aragón, Miguel Angel Martín
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	coenzyme Q10 cutaneous phalangeal erythema mitochondria PDSS1 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/068a3debfe9e4e0787307a85addb4270
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spelling	oai:doaj.org-article:068a3debfe9e4e0787307a85addb42702021-11-08T13:27:18ZDistal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency2192-831210.1002/jmd2.12216https://doaj.org/article/068a3debfe9e4e0787307a85addb42702021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12216https://doaj.org/toc/2192-8312Abstract We report a detailed clinical examination in a patient with primary coenzyme Q10 deficiency caused by biallelic mutations in the PDSS1 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‐methyl‐glutaconic and tricarboxylic aciduria. Supplementation with high dose of coenzyme Q10 was not effective to control disease progression and the patient died at the age of 3 years 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 PDSS1 mutations presenting with 3‐methyl‐glutaconic aciduria and distal phalangeal erythema, expanding the phenotype of primary coenzyme Q10 deficiency.Marcello BellusciMaria Teresa García‐SilvaAna Martínez de AragónMiguel Angel MartínWileyarticlecoenzyme Q10cutaneousphalangealerythemamitochondriaPDSS1Diseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 3-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	coenzyme Q10 cutaneous phalangeal erythema mitochondria PDSS1 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	coenzyme Q10 cutaneous phalangeal erythema mitochondria PDSS1 Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Marcello Bellusci Maria Teresa García‐Silva Ana Martínez de Aragón Miguel Angel Martín Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
description	Abstract We report a detailed clinical examination in a patient with primary coenzyme Q10 deficiency caused by biallelic mutations in the PDSS1 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‐methyl‐glutaconic and tricarboxylic aciduria. Supplementation with high dose of coenzyme Q10 was not effective to control disease progression and the patient died at the age of 3 years 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 PDSS1 mutations presenting with 3‐methyl‐glutaconic aciduria and distal phalangeal erythema, expanding the phenotype of primary coenzyme Q10 deficiency.
format	article
author	Marcello Bellusci Maria Teresa García‐Silva Ana Martínez de Aragón Miguel Angel Martín
author_facet	Marcello Bellusci Maria Teresa García‐Silva Ana Martínez de Aragón Miguel Angel Martín
author_sort	Marcello Bellusci
title	Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
title_short	Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
title_full	Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
title_fullStr	Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
title_full_unstemmed	Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency
title_sort	distal phalangeal erythema in an infant with biallelic pdss1 mutations: expanding the phenotype of primary coenzyme q10 deficiency
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/068a3debfe9e4e0787307a85addb4270
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Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency

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