Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome.
10.3881/j.issn.1000-503X.14761
- Author:
Ying SHAN
1
;
Ya-Gang ZUO
1
Author Information
1. Department of Dermatology,State Key Laboratory of Complex Severe and Rare Diseases,PUMC Hospital,CAMS and PUMC, National Clinical Research Center for Dermatologic and Immunologic Diseases,Beijing 100730,China.
- Publication Type:Journal Article
- Keywords:
Kindler syndrome;
congenital poikiloderma with bullae;
lower lip lesion;
recessive hereditary disease;
squamous cell carcinoma
- MeSH:
Adolescent;
Adult;
Ainhum;
Blister;
Carcinoma, Squamous Cell;
Child;
Constriction, Pathologic;
Deglutition Disorders/complications*;
Epidermolysis Bullosa;
Female;
Humans;
Inflammation;
Keratoderma, Palmoplantar/complications*;
Male;
Membrane Proteins;
Mutation;
Neoplasm Proteins/genetics*;
Periodontal Diseases;
Photosensitivity Disorders;
Urethral Stricture/complications*;
Young Adult
- From:
Acta Academiae Medicinae Sinicae
2022;44(2):227-235
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Results A total of 186 cases were enrolled,including 110 males and 76 females,with the mean age of(28±16)years. The data of gene mutation and specific clinical manifestations were available in 151 and 94 patients,respectively. The main clinical manifestations of KS included poikiloderma,occurrence of blister in childhood,and photosensitivity,and the secondary clinical manifestations included oral inflammation,palmoplantar keratoderma,webbing/pseudoainhum,dysphagia,urethral stricture and so on.Oral inflammation(r=0.234,P=0.023),palmoplantar keratoderma(r=0.325,P=0.001),webbing/pseudoainhum(r=0.247,P=0.016),dysphagia(r=0.333,P=0.001),urethral stricture(r=0.280,P=0.006)were significantly correlated with age,showing significantly higher incidence in the patients over 32 years old.Urethral stricture(χ2=11.292,P=0.001)and anal stenosis(χ2=4.014,P=0.045)were significantly correlated with sex,with higher incidence in males.Eighty different mutations were found in 151 patients,and the most common gene mutation was c.676C>T.Forty-one tumors occurred in 27 patients,among which squamous cell carcinoma accounted for 92.7%. The gene mutation site had no significant correlation with squamous cell carcinoma or patient country. Conclusions The c.676C>T in FERMT1 gene is the most common mutation in KS.The patients are prone to squamous cell carcinoma and mainly attacked at the exposure sites(hand and mouth).
