Kindler syndrome
Kindler syndrome (also known as "Bullous acrokeratotic poikiloderma of Kindler and Weary,",[1] "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," and "Weary–Kindler syndrome"[3]:558) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.
Diagnosis
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.
Genetics
Kindler syndrome has an autosomal recessive pattern of inheritance.
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).[4] Kindler syndrome was first described in 1954 by Theresa Kindler.[5]
See also
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 1-4160-2999-0.
- ↑ 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.
- ↑ Siegel, Dh; Ashton, Gh; Penagos, Hg; Lee, Jv; Feiler, Hs; Wilhelmsen, Kc; South, Ap; Smith, Fj; Prescott, Ar; Wessagowit, V; Oyama, N; Akiyama, M; Al, Aboud, D; Al, Aboud, K; Al, Githami, A; Al, Hawsawi, K; Al, Ismaily, A; Al-Suwaid, R; Atherton, Dj; Caputo, R; Fine, Jd; Frieden, Ij; Fuchs, E; Haber, Rm; Harada, T; Kitajima, Y; Mallory, Sb; Ogawa, H; Sahin, S; Shimizu, H; Suga, Y; Tadini, G; Tsuchiya, K; Wiebe, Cb; Wojnarowska, F; Zaghloul, Ab; Hamada, T; Mallipeddi, R; Eady, Ra; Mclean, Wh; Mcgrath, Ja; Epstein, Eh (July 2003). "Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome". American Journal of Human Genetics 73 (1): 174–87. doi:10.1086/376609. ISSN 0002-9297. PMC 1180579. PMID 12789646.
- ↑ Kindler T (1954). "Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy". Br. J. Dermatol. 66 (3): 104–11. doi:10.1111/j.1365-2133.1954.tb12598.x. PMID 13149722.
External links
|
---|
| Genodermatosis | Congenital ichthyosis/ erythrokeratodermia | |
---|
| EB and related |
- EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP
|
---|
| Ectodermal dysplasia | |
---|
| Elastic/Connective | |
---|
| Hyperkeratosis/ keratinopathy | PPK |
- diffuse: Diffuse epidermolytic palmoplantar keratoderma
- Diffuse nonepidermolytic palmoplantar keratoderma
- Palmoplantar keratoderma of Sybert
- Mal de Meleda
|
---|
| Other | |
---|
|
---|
| Other |
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder
|
---|
|
---|
| Developmental anomalies | Midline | |
---|
| Nevus | |
---|
| Other/ungrouped | |
---|
|
---|
| |
---|
| Description |
- Anatomy
- Physiology
- Development
|
---|
| Disease |
- Infections
- Vesiculobullous
- Dermatitis and eczema
- Papulosquamous
- Urticaria and erythema
- Radiation-related
- Pigmentation
- Mucinoses
- Keratosis, ulcer, atrophy, and necrobiosis
- Vasculitis
- Fat
- Neutrophilic and eosinophilic
- Congenital
- Neoplasms and cancer
- nevi and melanomas
- epidermis
- dermis
- Symptoms and signs
- Terminology
|
---|
| Treatment |
- Procedures
- Drugs
- antibiotics
- disinfectants
- emollients and protectives
- itch
- psoriasis
- other
- Wound and ulcer
|
---|
|
|
|
---|
| Arrestin | |
---|
| Myelin | |
---|
| Pulmonary surfactant | |
---|
| Cell adhesion molecule | | |
---|
| | | |
- cell surface receptor deficiencies
|
---|
|
---|
| Tetraspanin | |
---|
| Other | |
---|
| See also other cell membrane proteins
Index of cells |
---|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
---|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
---|
|
|