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Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of theECM1gene
- Source :
- The Journal of Dermatology. 43:804-807
- Publication Year :
- 2016
- Publisher :
- Wiley, 2016.
-
Abstract
- Lipoid proteinosis is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. Two children with lipoid proteinosis were reported from two unrelated Chinese families, both manifesting with a typical hoarse voice, white acne-like atrophic lesions and scarring on the skin, and beaded papules around the eyelids. The diagnosis had been confirmed by laboratory tests, skin biopsy and laryngoscope examination. Genomic DNA sequencing was performed for both children and their family members. The two children were treated with acitretin for 6 months and followed up for 1 year. Genomic DNA sequencing of the ECM1 gene showed a novel homozygous nonsense mutation of C1522>T (p.R508X) at exon 10 in one patient, and a novel compound heterozygote for a nonsense/frame-shift combination of mutations of R281X/1596delG at exons 7 and 10 in the other patient. The symptom of hoarse voice was improved by 6-month treatment with acitretin, while there was no improvement in the skin lesions. These results demonstrated that acitretin treatment may have efficacy for some of patients with lipoid proteinosis, with superior effect on laryngeal symptoms than skin lesions. However, the conclusive therapeutic effect and underlying mechanisms remain to be further investigated.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Nonsense mutation
Dermatology
Compound heterozygosity
Acitretin
030207 dermatology & venereal diseases
03 medical and health sciences
Exon
Extracellular matrix protein 1
Keratolytic Agents
0302 clinical medicine
Asian People
medicine
Humans
Child
education
Extracellular Matrix Proteins
education.field_of_study
medicine.diagnostic_test
business.industry
Genetic disorder
General Medicine
medicine.disease
Hoarse voice
Codon, Nonsense
030220 oncology & carcinogenesis
Skin biopsy
Lipoid Proteinosis of Urbach and Wiethe
medicine.symptom
business
medicine.drug
Subjects
Details
- ISSN :
- 03852407
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- The Journal of Dermatology
- Accession number :
- edsair.doi.dedup.....291677aefb9b4277147c45c3a459db26