Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
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.
Biotin; Delayed Diagnosis; Holocarboxylase Synthetase Deficiency; Humans; Ichthyosis; Seizures
multiple carboxylase deficiency; neonatal screening; rash
Cadieux-Dion, M., Gannon, J. L., Newell, B. D., Nopper, A. J., Jenkins, J. L., Heese, B., Saunders, C. J. Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings. Pediatric dermatology 38, 655-658 (2021).