Severe epidermolysis bullosa/Kindler syndrome‐like phenotype of an autoinflammatory syndrome in a child

2021 ◽  
Author(s):  
R. Mahajan ◽  
A. Bishnoi ◽  
S. Manjunath ◽  
P. Vignesh ◽  
D. Suri ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autoinflammatory Syndrome ◽  
Kindler Syndrome

scholarly journals The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 845-849 ◽  
Author(s):  
Cristina Has ◽  
Dimitra Kiritsi ◽  
Jemima E. Mellerio ◽  
Claus-Werner Franzke ◽  
Emma Wedgeworth ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa ◽  
Kindler Syndrome ◽  
Xvii Collagen

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

2018 ◽  
Vol 66 ◽  
pp. 22-33 ◽  
Author(s):  
Hassan Vahidnezhad ◽  
Leila Youssefian ◽  
Amir Hossein Saeidian ◽  
Hamidreza Mahmoudi ◽  
Andrew Touati ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Recessive Mutation ◽  
Kindler Syndrome ◽  
Systemic Manifestations

scholarly journals Periodontal Manifestation in a Patient with Kindler Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Aysegul Sari ◽  
Salih Celik
Keyword(s):  
Quality Of Life ◽  
Connective Tissue ◽  
Epidermolysis Bullosa ◽  
Hard Palate ◽  
Kindler Syndrome ◽  
Epidermal Tissue ◽  
Severe Periodontitis ◽  
Inherited Epidermolysis Bullosa ◽  
Oral Symptoms

Kindler syndrome is a rare subtype of inherited epidermolysis bullosa. A 42-year-old female patient was admitted to our clinic with a complaint of tooth mobility. Multiple hypo- and hyperpigmented macules dissipated all over her body, prominent poikilodermatous changes, xerosis of the skin, and atrophy were seen in the clinical extraoral examination. Intraoral examination showed atrophy of the buccal mucosa, limited oral opening, epidermal tissue easily separated from the connective tissue, painful ulcers of the hard palate, severe periodontitis, and keratosis of the lips. All of the teeth showed mobility. After dermatologist consultation, the diagnosis of the patient was clinically identified as “Kindler syndrome.” All of her teeth were extracted due to her progressive periodontal disease and late admission to our clinic. Periodontal treatment might be effective in treating and controlling oral symptoms related to the syndrome and in improving the patient’s quality of life.

scholarly journals Sporadic Kindler Syndrome with a novel mutation

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 212-215 ◽  
Author(s):  
Hiram Larangeira de Almeida Jr ◽  
Gláucia Thomas Heckler ◽  
Kenneth Fong ◽  
Joey Lai-Cheong ◽  
John McGrath
Keyword(s):  
Dna Sequencing ◽  
Epidermolysis Bullosa ◽  
Surgical Intervention ◽  
Novel Mutation ◽  
Compound Heterozygosity ◽  
Rare Form ◽  
Kindler Syndrome ◽  
Mucosal Involvement ◽  
Mucous Membranes

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

scholarly journals Kindler Syndrome : Clinical Particularities about Two Cases Reports in Two Siblings

2020 ◽  
Vol 5 (2) ◽  
pp. 01-02
Author(s):  
Elharrouni Alaoui A ◽  
Baybay H ◽  
Chaoui R ◽  
Douhi Z ◽  
Elloudi S ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Mucosal Inflammation ◽  
Major Type ◽  
Kindler Syndrome ◽  
Rare Syndrome ◽  
Cutaneous Atrophy ◽  
Hereditary Epidermolysis Bullosa ◽  
Sibling Cases

The Kindler syndrome, the fourth major type of hereditary epidermolysis bullosa (HEB), is a rare autosomal recessive genodermatoses, characterized by trauma-induced blistering, cutaneous atrophy, and progressive poikiloderma, in association with mucosal inflammation. We report tow new sibling cases of this rare syndrome.

scholarly journals Cutaneous and Laryngeal Squamous Cell Carcinoma in Mixed Epidermolysis Bullosa, Kindler Syndrome

2012 ◽  
Vol 4 (2) ◽  
pp. 133-138 ◽  
Author(s):  
Hiromi Mizutani ◽  
Koji Masuda ◽  
Naomi Nakamura ◽  
Hideya Takenaka ◽  
Daisuke Tsuruta ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Epidermolysis Bullosa ◽  
Laryngeal Squamous Cell Carcinoma ◽  
Kindler Syndrome

Skin

2019 ◽  
pp. 261-266
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Epidermolysis Bullosa ◽  
Clinical Case ◽  
Genetic Disorders ◽  
Multidisciplinary Care ◽  
Case Presentation ◽  
Recessive Lethal ◽  
Genetic Sequencing ◽  
Kindler Syndrome ◽  
The Many ◽  
Maternal Disease

This chapter reviews the congenital blistering syndromes. These include the many forms of epidermolysis bullosa (EB) of which the simplex form is the most common. Junctional and dystrophic EB and Kindler syndrome are the other major types of EB. The differential also includes Peeling Skin syndrome and other common forms of neonatal blisters due to infection, maternal disease or other genetic disorders. Genetic sequencing panels are rapidly replacing dermatopathology in the diagnosis of these complex and overlapping conditions. Multidisciplinary care is necessary for severely affected infants and some disorders are lethal in the neonatal period. The clinical case presentation features an infant with autosomal recessive lethal acantholytic epidermolysis bullosa.

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