Literature DB >> 19200189

Kindler syndrome: report of three cases in a family and a brief review.

Ameneh Yazdanfar1, Banafsheh Hashemi.   

Abstract

BACKGROUND: Kindler syndrome is an autosomal recessive disorder with neonatal blister formation, photosensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Skin atrophy is more prominent on the extremities and the skin manifestations improve with age.
METHODS: We report three cases in a family which present the clinical and pathologic manifestations of Kindler syndrome.
RESULTS: All of the three cases reported here present skin changes on the extremities, face, and neck, including hyper- and hypopigmentation, atrophy, and telangiectasia. The condition in these cases started soon after birth. Two of these cases also had mucosal involvement.
CONCLUSION: Increased photosensitivity and sunburn after minimal sun exposure should lead physicians to examine the skin for poikiloderma and the mouth for fragility of the gums, periodontitis and other associated findings. Also, patients should be questioned about any history of blister formation as well as family history.

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Year:  2009        PMID: 19200189     DOI: 10.1111/j.1365-4632.2009.03936.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN: 0011-9059            Impact factor:   2.736


  5 in total

1.  The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

Authors:  Leila Youssefian; Hassan Vahidnezhad; Mohammadreza Barzegar; Qiaoli Li; Soheila Sotoudeh; Ameneh Yazdanfar; Amir Hooshang Ehsani; Abdol-Mohammad Kajbafzadeh; Nikoo Mozafari; Nasser Ebrahimi Daryani; Farzaneh Agha-Hosseini; Sirous Zeinali; Jouni Uitto
Journal:  J Invest Dermatol       Date:  2015-01-19       Impact factor: 8.551

2.  Urological Manifestations of Kindler Syndrome: A Case Report.

Authors:  Rudra Ghorai; Gurpremjit Singh; Ankur Mittal; Vikas K Panwar; Harkirat Talwar
Journal:  Cureus       Date:  2022-05-05

3.  Blistering and Mottled Pigmentation in a Young Male.

Authors:  Anupama Bains; Deepak Vedant; Abhishek Bhardwaj; Poonam Elhence
Journal:  Indian Dermatol Online J       Date:  2018 Nov-Dec

4.  Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.

Authors:  Susanne Krämer; James Lucas; Francisca Gamboa; Miguel Peñarrocha Diago; David Peñarrocha Oltra; Marcelo Guzmán-Letelier; Sanchit Paul; Gustavo Molina; Lorena Sepúlveda; Ignacio Araya; Rubén Soto; Carolina Arriagada; Anne W Lucky; Jemima E Mellerio; Roger Cornwall; Fatimah Alsayer; Reinhard Schilke; Mark Adam Antal; Fernanda Castrillón; Camila Paredes; Maria Concepción Serrano; Victoria Clark
Journal:  Spec Care Dentist       Date:  2020-11

5.  Sporadic Kindler syndrome with a novel mutation.

Authors:  Hiram Larangeira de Almeida; Gláucia Thomas Heckler; Kenneth Fong; Joey Lai-Cheong; John McGrath
Journal:  An Bras Dermatol       Date:  2013 Nov-Dec       Impact factor: 1.896

  5 in total

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