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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings
Author(s) -
CadieuxDion Maxime,
Gan Jennifer,
Newell Brandon,
Nopper Amy Jo,
Jenkins Janda,
Heese Bryce,
Saunders Carol
Publication year - 2021
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14586
Subject(s) - medicine , lethargy , dermatology , hyperammonemia , rash , metabolic acidosis
Holocarboxylase deficiency (HLCSD) is caused by biallelic pathogenic variants in HLCS and is associated with poor feeding, emesis, lethargy, seizures, life‐threatening metabolic acidosis, and hyperammonemia. Skin involvement in HLCSD is typically described as scaly, erythrodermic, seborrhea‐like, or ichthyosiform, but there is a paucity of reports. We report three patients, including two siblings, with HLCSD and significant cutaneous manifestations including ichthyosiform dermatitis and a presentation with features of annular pustular psoriasis. In this report, we show that persistent, unexplained rash, even in the absence of other clinical findings, should warrant consideration and potential workup for HLCSD.