Kindler's syndrome: a report of five cases in a family.

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.

• Authors: Muhammad Irfan Anwar, Ajmal Rashid, Rabia Ghafoor, Moizza Tahir, Sibghat Ullah Rao, Farhan Mir
• Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP (J Coll Physicians Surg Pak) Vol. 24 Issue 10 Pg. 763-5 (Oct 2014) ISSN: 1681-7168 [Electronic] Pakistan
• PMID: 25327923 (Publication Type: Case Reports, Journal Article)

Topics

• Blister (diagnosis, etiology, genetics)
• Consanguinity
• Diagnosis, Differential
• Epidermolysis Bullosa (diagnosis, genetics)
• Female
• Humans
• Male
• Periodontal Diseases (diagnosis, genetics)
• Photosensitivity Disorders (diagnosis, genetics)
• Rothmund-Thomson Syndrome (diagnosis, genetics)
• Siblings