In this paper, we report Kindler syndrome in two children born to consanguineous parents presenting acral blistering, photosensitivity, poikiloderma, cutaneous atrophy and periodontitis. [scielo.br]

Where an informative family tree is known, it is often acceptable for a clinical diagnosis (based on the presenting signs above) to be made by a specialist dermatologist. [dermnetnz.org]

A and B: At birth, acral blisters and erosions are present. C and D: At age 5 years, atrophy and reticulated erythema with dyschromic patches are noted. [emedicine.medscape.com]

A diagnosis of RTS may be suspected if the rash is present but atypical and other physical characteristics associated with RTS are present. [rarediseases.org]

It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [epidermolysisbullosanews.com]

What is the treatment for Kindler syndrome? See treatment of epidermolysis bullosa – general. Apply high protection factor sunscreen and avoid sun exposure. Good dental hygiene, a soft, highly nutritious diet. [dermnetnz.org]

Standard Therapies The treatment of Rothmund-Thomson syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

[…] the interactions between actin and the extracellular matrix (focal adhesion plaques).[6] Kindler syndrome was first described in 1954 by Theresa Kindler.[7] Diagnosis[edit] Clinical and genetic tests are used to confirm diagnosis.[5] Management[edit] Treatment [en.wikipedia.org]

Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol. 2013 Feb. 37 (1):32-9. [Medline]. [emedicine.medscape.com]

The patients with extensive mucous membranes involvement (severe oral lesions and/or stenosis of the esophagus, larynx, or anus) have a worse prognosis.7 Our patients had poorly preserved teeth, periodontitis and gingival bleeding after minimal trauma [scielo.br]

Prognosis Patients usually have normal intelligence and a normal life span. Blistering improves with age, but poikiloderma and atrophy are progressive. [emedicine.medscape.com]

Epidemiology Frequency Since the first description in 1954, more than 250 cases of Kindler syndrome have been reported worldwide. [emedicine.medscape.com]

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol. 2008 Sep. 128(9):2156-65. [Medline]. Rognoni E, Ruppert R, Fässler R. [emedicine.medscape.com]

Treatment Treatment of Kindler’s syndrome generally consists of avoiding damage to the skin, using moisturizers to help maintain skin health, and preventing blisters from getting infected. [epidermolysisbullosanews.com]

This multidisciplinary team will also be involved in preventing secondary complications.[8] See also[edit] Rothmund–Thomson syndrome List of cutaneous conditions References[edit] ^ a b c d Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007 [en.wikipedia.org]

Most mutations in the FERMT1 gene prevent the production of any functional kindlin-1. A lack of this protein disrupts many essential cell functions. [ghr.nlm.nih.gov]

Patient Education Patients should be advised to avoid trauma, which helps prevent blister formation. The use of broad-spectrum photoprotection should be emphasized. Frequent consultation with a dermatologist is essential. [emedicine.medscape.com]

Surgical removal of opacified lenses can be performed to prevent serious visual impairment or loss. [rarediseases.org]