Kindler syndrome: A rare case report

Kindler Syndrome (KS) is a rare hereditary disorder characterized by acral blistering of infancy and childhood, photosensitivity, progressive poikiloderma, and cutaneous atrophy. We report this case of KS in a 4 year old female child on account of its rarity Keywords: Kindler syndrome; acral blistering; pokiloderma; photosensitivity

DENTAL MANAGEMENT OF A PEDIATRIC PATIENT WITH KINDLER SYNDROME- A REVIEW

Kindler syndrome is a rare autosomal recessive genetic disorder which is a form of Epidermolysis Bullosa. It is characterized by skin fragility and acral blister formation beginning at birth. We hereby present a case of Kindler syndrome. The case is being reported for its rarity and a number of general features like blistering, cutaneous atrophy, and/or poikilodermatous skin changes and oral features such as gingival swelling, advanced periodontal bone loss, mild-to-severe gingivitis, dental caries, and leukokeratosis of buccal mucosa along with its management.

Novel Pathogenic Mutations of FERMT1 in two Chinese Kindler Syndrome Families

Background: Kindler syndrome (KNDLRS) is a very rare autosomal recessive disorder characterized by bullous poikiloderma with photosensitivity. Loss-of-function mutations in FERMT1, which located on chromosome 20p12.3, were responsible for KNDLRS. Numerous mutations in FERMT1 have been reported to be associated with KNDLRS. Results: The present study reported two Chinese KNDLRS families, and affected individuals from both families presented with poikiloderma, palmoplantar hyperkeratosis, and diffuse cigarette paper like atrophy on hands. Skin biopsy of the proband from family 2 showed atrophy of epidermis, hyperkeratosis, dilated blood vessels in upper dermis, and microbubbles at the dermis and epidermis junction. Medical Whole Exome Sequencing V4 combined with Sanger sequencing revealed mutations in FERMT1 with affected individuals. Compound heterozygous nonsense mutations (c.193C>T, c.277C>T) were found with family 1, and a homozygous frameshift mutation (c.220delC) was observed in family 2. According to the clinical features and genetic analysis, KNDLRS was diagnosed in two Chinese families. Conclusions: This study revealed two novel pathogenic mutations in FERMT1 that caused KNDLRS and briefly summarized all pathogenic mutations in FERMT1 that have been documented via the PubMed.

Periodontal Manifestation in a Patient with Kindler Syndrome

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.

Oral Care in Kindler Syndrome: 7-Year Follow-up of 2 Brothers

Background: Kindler poikiloderma is an inherited autosomal genodermatosis characterized by blistering of the epidermis and mucosae. Its prevalence is unknown. Case report: We monitored two brothers suffering from this pathology. Oral manifestations mainly take the form of periodontal lesions. In our patients we noted gingivitis progressing to periodontitis as follow-up care was not effective. We also diagnosed enamel hypoplasia, described more rarely in this pathology. Conclusion: Periodontitis in Kindler Syndrome responds to maintenance therapy, but the absence of surveillance is penalized by a deterioration in periodontal condition and complication of management. All restorative, endodontic, surgical, periodontal and orthodontic treatments should be performed with appropriate precautions.

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

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.