Kindler's syndrome: a report of five cases in a family
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2014; 24 (10): 763-765
em Inglês
| IMEMR
| ID: emr-149787
ABSTRACT
Kindler's Syndrome [KS] is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene [also known as KIND-1 gene] that encodes the protein Kindlin-1 [kindlerin]. Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. The differential diagnosis of Kindler syndrome include other congenital poikilodermatous and photosensitive conditions including Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. We herein, report the presence of the Kindler's syndrome in 5 out of 7 children of consanguineous parents. To authors' knowledge, this is the first report of Kindler's syndrome involving 5 members of a family
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Doenças Periodontais
/
Transtornos de Fotossensibilidade
/
Família
/
Criança
/
Epidermólise Bolhosa
/
Consanguinidade
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2014
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