Kindler syndrome: Case Report
Keywords:
Kindler syndrome, KSAbstract
Kindler syndrome (KS, OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-induced blister, progressive poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity1. Sporadic cases are common, with many originating in consanguineous family2. The pathogenesis of Kindler syndrome caused by a defect in the actin-extracellular matrix linkage, known as protein fermitin family homologue 1 (previously known as kindling-1 or kindlerin)4,5, encoded by the gene FERMT1.
We are hereby reporting a patient with classical cutaneous features of Kindler syndrome. A 8 year- old boy presented with a history of recurrent trauma-induced acral blistering, which started on the neonatal period and persisted until now. The acral blistering improved with age but pigmentary changing and skin atrophy appear gradually. He present as sporadic case, his parents are remote related from north-eastern Thailand. Because of the rarity of the syndrome and to emphasize the importance of considering this condition in the differential diagnosis of disorders that can cause blistering, cutaneous atrophy, and/or poikilodermatous skin changes.
References
J E. Lai-Cheong, A. et al. review article Kindler syndrome: a focal adhesion genodermatosis. British Journal of dermatology 2009 Feb; 160(2): 233-42 Epub 2008 Dec 11
Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol.May 2006; 142(5):620-4.
Lai-Cheong JE, Liu L, Sethuraman G et al. Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J Invest Dermatol 2007; 127:2268–70.
Jobard F, Bouadjar B, Caux F et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003 12:925–35.
Siegel DH, Ashton GH, Penagos HG et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73:174–87.
Kloeker S, Major MB, Calderwood DA et al. The Kindler syndrome protein is regulated by transforming growth factor-beta and involved in integrin-mediated adhesion. J Biol Chem 2004; 279:6824–33.
Kaviarasan PK, Prasad PV, Shradda, Viswanathan P. Kindler syndrome . Indian J Dermatol Venereol Leprol. 2005 Sep-Oct;71(5):348-50.
Witt PD, Cheng CJ, Mallory SB et al. Surgical treatment of pseudosyndactyly of the hand in epidermolysis bullosa: histological analysis of an acellular allograft dermal matrix. Ann Plast Surg 1999;43:379–85
Wiebe CB, Penagos H, Luong N, Slots J, Epstein E Jr, Siegel D, et al. Clinical and microbiologic study of periodontitis associated with Kindler syndrome. J Periodontol. Jan 2003;74(1):25-31.
Binder B, Metze D & Smolle J. Kongenitale bullöse Poikilodermie (Kindler-Syndrome). Hautarzt (2002) 53: 546–549
Cristina Has and Leena Bruckner-Tuderman. A Novel Nonsense Mutation in Kindler Syndrome Journal of Investigative Dermatology (2004) 122, 84–86
Kern JS, Herz C, Haan E et al. Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol 2007; 213:462–70.
Wiebe CB, Petricca G, Hakkinen L et al. Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case. J Periodontol 2008; 79:961–6.
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เนื้อหาและข้อมูลในบทความที่ลงตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นข้อคิดเห็นและความรับผิดชอบของผู้เขียนบทความโดยตรงซึ่งกองบรรณาธิการวารสาร ไม่จำเป็นต้องเห็นด้วย หรือร่วมรับผิดชอบใดๆ
บทความ ข้อมูล เนื้อหา รูปภาพ ฯลฯ ที่ได้รับการตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นลิขสิทธิ์ของวารสารฯ หากบุคคลหรือหน่วยงานใดต้องการนำทั้งหมดหรือส่วนหนึ่งส่วนใดไปเผยแพร่ต่อหรือเพื่อกระทำการใดๆ จะต้องได้รับอนุญาตเป็นลายลักอักษรจากบรรณาธิการวารสารโรคผิวหนังก่อนเท่านั้น
