Clinical Diagnosis of Kindler Syndrome: A Report of Two Cases from a District Hospital in Gujranwala, Pakistan

Diagnosis of Kindler syndrome

Authors

  • Yasaan Saaqib Gujranwala Medical College
  • Nabeela Shahzadi Dermatology Department, Gujranwala Medical College,Gujranwala
  • Zahid Tahir Department of Dermatology, Gujranwala Medical College, Gujranwala
  • Nadia Ali Aazfar

Keywords:

Kindler syndrome, Epidermolysis Bullosa, Blisters, Photosensitivity disorders, Recessive genes

Abstract

 Kindler syndrome is a rare autosomal recessive disorder belonging to the group of Epidermolysis Bullosa (EB), which encompasses genetic disorders affecting the skin and mucous membranes. This case report aims to contribute to the limited literature on Kindler syndrome by presenting two cases observed at a district hospital in Gujranwala, Pakistan. The cases involve a brother and sister displaying typical symptoms and having a family history of the disease. The objective is to enhance clinicians' awareness of this rare disorder and emphasize the significance of clinical diagnosis-driven management strategies.

Author Biography

Nabeela Shahzadi, Dermatology Department, Gujranwala Medical College,Gujranwala

Assistant Professor, Department of Dermatology, Gujranwala Medical College, Gujranwala

References

References

Gkaitatzi M, Kalloniati E, Has C, Kiritsi D, Spiliopoulos T, Georgiou S. Kindler syndrome: A rare case report from Greece. Oxford Med Case Reports. 2019;2019(2):103–5.

KINDLER T. Congenital Poikiloderma With Traumatic Bulla Fokmation and Progressive Cutaneous Atrophy. Br J Dermatol. 1954;66(3):104–11.

Has C, Castiglia D, del Rio M, Garcia Diez M, Piccinni E, Kiritsi D, et al. Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011;32(11):1204–12.

Mendiratta V, Malik M. Kindler Syndrome. Indian Pediatr. 2018;55(1):85.

Shan Y, Zuo Y. Clinical Characteristics and Gene Mutations in 186 Cases of Kindler Syndrome. Acta Acad Med Sin. 2022;44(2):227–35.

Heinemann A, He Y, Zimina E, Boerries M, Busch H, Chmel N, et al. Induction of phenotype modifying cytokines by FERMT1 mutations. Hum Mutat. 2011;32(4):397–406.

Anwar MI, Rashid A, Ghafoor R, Tahir M, Rao SU, Mir F. Kindler’s syndrome: A report of five cases in a family. J Coll Physicians Surg Pakistan. 2014;24(10):763–5.

Ghorai R, Singh G, Mittal A, Panwar VK, Talwar H. Urological Manifestations of Kindler Syndrome: A Case Report. Cureus. 2022;14(5):1–5.

Sadler E, Klausegger A, Muss W, Deinsberger U, Pohla-Gubo G, Laimer M, et al. Novel KIND1 gene mutation in kindler syndrome with severe gastrointestinal tract involvement. Arch Dermatol. 2006;142(12):1619–24.

Angelova-Fischer I, Kazandjieva J, Vassileva S, Dourmishev A. Kindler syndrome: A case report and proposal for clinical diagnostic criteria. Acta Dermatovenerologica Alpina, Pannonica Adriat. 2005;14(2):61–7.

El Hachem M, Diociaiuti A, Proto V, Fortugno P, Zambruno G, Castiglia D, et al. Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. Eur J Dermatology. 2015;25(1):14–9.

Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, et al. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol [Internet]. 2018;66:22–33. Available from: https://doi.org/10.1016/j.matbio.2017.11.003

Kaviarasan PK, Prasad PVS, Shradda, Viswanathan P. Kindler syndrome. Indian J Dermatol Venereol Leprol. 2005;71(5):348–50.

Mellerio JE, Martinez AE, Has C, Kinsler V, Yan A, Harper J, et al. Connect with Wiley. In 2019. p. 10–1.

Malik LM, Azfar NA, Jamil A, Jahangir M. A case of Kindler syndrome with florid scabies. J Pakistan Assoc Dermatologists. 2010;20(1):45–9.

Gonzalez ME. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol. 2013;37(1):32–9.

Handa N, Kachhawa D, Jain V, Rao P, Das A. Kindler’s syndrome: A tale of two siblings. Indian J Dermatol. 2016;61(4):468.

Gupta V, Dogra D, Gupta N, Parveen S. Kindler’s syndrome with long thick cuticles and mottled hyperpigmentation. Indian J Dermatol Venereol Leprol. 2011;77(1):66–8.

Has C, Burger B, Volz A, Kohlhase J, Bruckner-Tuderman L, Itin P. Mild clinical phenotype of kindler syndrome associated with late diagnosis and skin cancer. Dermatology. 2010;221(4):309–12.

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Published

2023-08-07

How to Cite

1.
Saaqib Y, Shahzadi N, Tahir Z, Azfar NA. Clinical Diagnosis of Kindler Syndrome: A Report of Two Cases from a District Hospital in Gujranwala, Pakistan: Diagnosis of Kindler syndrome. J Pak Assoc Dermatol [Internet]. 2023Aug.7 [cited 2024Dec.4];33(3):1106-11. Available from: http://www.jpad.com.pk/index.php/jpad/article/view/2462

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Case Reports

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