Medicine:Kindler syndrome
| Kindler syndrome | |
|---|---|
| Other names | Congenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]:511 Acrokeratotic poikiloderma, Weary–Kindler syndrome[3]:558 |
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| Kindler syndrome has an autosomal recessive pattern of inheritance. | |
Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary"[1]) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.
Symptoms and signs
Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns. As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. However, pigment changes and thinning of the skin become more prominent.[4] Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems.[5]
Genetics
Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques).[6] Kindler syndrome was first described in 1954 by Theresa Kindler.[7]
Diagnosis
Clinical and genetic tests are used to confirm diagnosis.[5]
Management
Treatment may involve several different types of practitioner to address the various manifestations that may occur. This multidisciplinary team will also be involved in preventing secondary complications.[8]
See also
- Rothmund–Thomson syndrome
- Epidermolysis bullosa
- List of cutaneous conditions
References
- ↑ 1.0 1.1 1.2 1.3 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN:0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN:0-7216-2921-0.
- ↑ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter et al. (2020-09-24). "Epidermolysis bullosa" (in en). Nature Reviews Disease Primers 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. https://www.nature.com/articles/s41572-020-0210-0.
- ↑ 5.0 5.1 "Kindler syndrome". NIH. https://ghr.nlm.nih.gov/condition/kindler-syndrome#diagnosis.
- ↑ "Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome". Am. J. Hum. Genet. 73 (1): 174–87. July 2003. doi:10.1086/376609. PMID 12789646.
- ↑ "Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy". Br. J. Dermatol. 66 (3): 104–11. March 1954. doi:10.1111/j.1365-2133.1954.tb12598.x. PMID 13149722.
- ↑ "Kindler Syndrome - Synonym: Congenital Bullous Poikiloderma". GeneReviews. December 2016. PMID 26937547.
External links
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