Rare subtypes of epidermolysis bullosa: three case reports and their pedigree analysis
- VernacularTitle:罕见亚型大疱性表皮松解症3例及家系调查
- Author:
Fuying CHEN
1
;
Weiqin YANG
;
Beibei ZHANG
;
Yumeng WANG
;
Jianbo WANG
;
Zhirong YAO
;
Ming LI
Author Information
- Keywords: Epidermolysis bullosa; DNA mutational analysis; Epidermolysis bullosa simplex with mottled pigmentation; Dystrophic epidermolysis bullosa pruriginosa; Kin
- From: Chinese Journal of Dermatology 2022;55(8):682-685
- CountryChina
- Language:Chinese
- Abstract: Objective:To report 3 cases of rare subtypes of hereditary epidermolysis bullosa.Methods:Clinical data were collected from the probands and their relatives, whole-exome sequencing was performed to screen disease-causing mutations in the probands, and Sanger sequencing or qPCR was conducted to verify the mutations in patients and their relatives.Results:Case 1 mainly presented with linear red scars on the back, and the proband, her mother with similar clinical manifestations and her asymptomatic daughter all carried a mutation c.4573G>A (p.Gly1525Arg) in the COL7A1 gene. Case 2 presented with generalized reticular pigmentation all over the body and occasional blisters restricted to the hand and foot, and carried a de novo mutation c.74C>T (p.Pro25Leu) in the KRT5 gene. Case 3 presented with pigmentation abnormalities mainly located at the sun-exposed sites and incomplete syndactyly of the left hand, and carried homozygous deletion mutations in exons 2-6 of the FERMT1 gene, which were inherited from her asymptomatic parents. Case 1 was diagnosed with dominant dystrophic epidermolysis bullosa pruriginosa, case 2 was diagnosed with epidermolysis bullosa simplex with mottled pigmentation, and case 3 was diagnosed with Kindler epidermolysis bullosa. Conclusion:The clinical manifestations of epidermolysis bullosa vary greatly, and gene detection is very important for confirmation of diagnosis of its rare types.
