J Pediatr Genet 2023; 12(01): 069-072
DOI: 10.1055/s-0040-1721077
Case Report

Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

Yousef Binamer
1   Department of Dermatology, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia
Muzamil A. Chisti
1   Department of Dermatology, King Faisal Specialist Hospital & Research Centre, Riyadh, Kingdom of Saudi Arabia
› Author Affiliations


Kindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

Publication History

Received: 12 August 2020

Accepted: 12 October 2020

Article published online:
19 November 2020

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  • References

  • 1 Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66 (03) 104-111
  • 2 Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. Ann Bras Dermatol 2020; 95 (05) 551-569
  • 3 Fine JD, Eady RA, Bauer EA. et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008; 58 (06) 931-950
  • 4 Fine JD, Bruckner-Tuderman L, Eady RA. et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70 (06) 1103-1126
  • 5 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 (01) 174-187
  • 6 Lai-Cheong JE, Ussar S, Arita K, Hart IR, McGrath JA. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol 2008; 128 (09) 2156-2165
  • 7 Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H. Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 2002; 46 (03) 447-450
  • 8 Fischer IA, Kazandjieva J, Vassileva S, Dourmishev A. Kindler syndrome: a case report and proposal for clinical diagnostic criteria. Acta Dermatovenerol Alp Panonica Adriat 2005; 14 (02) 61-67
  • 9 Amirchaghmaghi M, Moeintaghavi A, Rasekhi J, Mozafari PM, Dalirsani Z, Jafarian AH. Kindler syndrome: a case report from Iran. J Dent Mater Tech 2014; 3: 134-138
  • 10 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 (08) 925-935
  • 11 Goult BT, Bouaouina M, Harburger DS. et al. The structure of the N-terminus of kindlin-1: a domain important for alphaiibbeta3 integrin activation. J Mol Biol 2009; 394 (05) 944-956
  • 12 Guerrero-Aspizua S, Conti CJ, Escamez MJ. et al. Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. Orphanet J Rare Dis 2019; 14 (01) 183
  • 13 Richards S, Aziz N, Bale S. ACMG Laboratory Quality Assurance Committee. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17 (05) 405-424
  • 14 Patiroglu T, Akar HH. Clericuzio-type poikiloderma with neutropenia syndrome in a Turkish family: a three report of siblings with mutation in the C16orf57 gene. Iran J Allergy Asthma Immunol 2015; 14 (03) 331-337
  • 15 Aglaguel A, Abdelghaffar H, Ailal F. et al. Poikiloderma with neutropenia in Morocco: a report of four cases. J Clin Immunol 2017; 37 (04) 357-362