A case of multiple carboxylase deficiency presenting with skin lesions as the initial symptom induced by a novel mutation in the holocarboxylase synthetase gene

Yunling LI; Huiwen Zheng; Yin LI; Lihua Wang; Wei LI; Xiaoxuan Guo; Chunlan Huang; Sha Zhou; Xinwen Huang; Zhongfa Lyu

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A case of multiple carboxylase deficiency presenting with skin lesions as the initial symptom induced by a novel mutation in the holocarboxylase synthetase gene

VernacularTitle: 全羧化酶合成酶基因新发突变致以皮肤为首发症状的多种羧化酶缺乏症一例
Author: Yunling LI ¹ ; Huiwen ZHENG ¹ ; Yin LI ¹ ; Lihua WANG ² ; Wei LI ¹ ; Xiaoxuan GUO ¹ ; Chunlan HUANG ¹ ; Sha ZHOU ¹ ; Xinwen HUANG ³ ; Zhongfa LYU ⁴
Author Information

1. Department of Dermatology, Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China
2. Department of Dermatology, Hangzhou Daguan Shangtang Community Health Service Center, Hangzhou 310026, China
3. Department of Genetics and Metabolism, Children′s Hospital, Zhejiang University School of Medicine, Hangzhou 310052, China
4. Department of Dermatology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China
Publication Type:Case Reports
Keywords: Multiple carboxylase deficiency; Skin manifestations; Biotin; Holocarboxylase synthetase gene; Mutation
From: Chinese Journal of Dermatology 2019;52(11):829-832
CountryChina
Language:Chinese
Abstract: A male patient, who was aged 3 months and 12 days, presented with well-circumscribed erythema and scales on the scrotum, perineum, buttocks and perianal region at 1 month after birth. The lesions gradually involved the perioral and axillary regions, flexor aspect of the elbow, popliteal fossa and neck. Shortness of breath, crying, dysphoria and vomiting occurred without fever and cough 3 days before hospitalization. Laboratory examinations at admission showed metabolic acidosis, hyperlactacidemia, hyperammonemia and organic aciduria. Second-generation sequencing and Sanger sequencing of the holocarboxylase synthetase gene revealed a known mutation c.1522C>T in exon 9 and a novel mutation c.1796_1814del in exon 11. According to a guideline from the American College of Medical Genetics and Genomics, this novel mutation was ranked as a pathogenic mutation. The patient was diagnosed as multiple carboxylase deficiency. His clinical symptoms were improved after oral biotin treatment, no neurological symptoms or signs were observed.