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
Dans Anglais
| 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
Recherche sur Google
Indice:
Méditerranée orientale
Sujet Principal:
Maladies parodontales
/
Photodermatoses
/
Famille
/
Enfant
/
Épidermolyse bulleuse
/
Consanguinité
Type d'étude:
Enquête cas-témoins / Études cas/témoins
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
J. Coll. Physicians Surg. Pak.
Année:
2014
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS