Kindler syndrome

Kindler syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q82.8
OMIM	173650
DiseasesDB	32778
eMedicine	derm/943

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]

References

1 2 3 4 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

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

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	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

Cell membrane protein disorders (other than Cell surface receptor, enzymes, and cytoskeleton)

Arrestin

Oguchi disease 1

Myelin

Pulmonary surfactant

Surfactant metabolism dysfunction 1, 2

Cell adhesion molecule

IgSF CAM:

OFC7

Cadherin:	DSG1 Striate palmoplantar keratoderma 1

DSG2 Arrhythmogenic right ventricular dysplasia 10 DSG4 LAH1 DSC2 Arrhythmogenic right ventricular dysplasia 11

Integrin:

cell surface receptor deficiencies

Tetraspanin

Other

See also other cell membrane proteins

This article is issued from Wikipedia - version of the 5/18/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.