- Cutis laxa
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Cutis laxa Classification and external resources ICD-10 L57.4, Q82.8 (ILDS Q82.816) ICD-9 701.8, 756.83 OMIM 123700 219100 219200 304150 DiseasesDB 29439 eMedicine derm/03 MeSH D003483 Cutis laxa (also known as "Chalazoderma," "Dermatochalasia,"[1] "Dermatolysis," "Dermatomegaly," "Generalized elastolysis," "Generalized elastorrhexis,"[1] and "Pachydermatocele"[2]) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Contents
Causes
In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.
In patients suffering from cutis laxa, mutations in the elastic fibers comprising the dermis have been identified.
Cutis laxa may be caused by mutations in the genes: ELN,[3] ATP6V0A2,[4] ATP7A,[5]FBLN4,[6] FBLN5,[7] and PYCR1.[8] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.[9]
Presentation
It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart, intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed.
See also
- Ehlers-Danlos syndrome
- Gerodermia osteodysplastica
- Occipital horn syndrome
- List of cutaneous conditions
References
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL DOMINANT -123700
- ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE II -219200
- ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, X-LINKED -304150
- ^ Online 'Mendelian Inheritance in Man' (OMIM) CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I -219100
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 604580
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 179035
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 138250
External links
- DermAtlas 143
- GeneReviews/NCBI/NIH/UW entry on FBLN5-Related Cutis Laxa
- GeneReviews/NCBI/NIH/UW entry on ATP6V0A2-Related Cutis Laxa
- GeneReview/NCBI/NIH/UW entry on EFEMP2-Related Cutis Laxa
- GeneReviews/NIH/NCBI/UW entry on ATP7A-Related Copper Transport Disorders
Radiation-related disorders / Photodermatosis (L55–L59, 692.7) Ultraviolet/ionizing Sunburn · Phytophotodermatitis · Solar urticaria · Polymorphous light eruption (Benign summer light eruption, Juvenile spring eruption, Acne aestivalis) · Hydroa vacciniforme
Solar erythemaNonionizing Actinic rays: Actinic keratosis (Atrophic actinic keratosis · Hyperkeratotic actinic keratosis · Lichenoid actinic keratosis · Pigmented actinic keratosis) · Actinic cheilitis · Actinic granuloma • Actinic prurigo • Chronic actinic dermatitis
Infrared/heat: Erythema ab igne (Kangri ulcer • Kairo cancer • Kang cancer • Peat fire cancer )
Cutis rhomboidalis nuchae · Poikiloderma of CivatteOther/ungrouped Radiation dermatitis (Acute radiodermatitis, Chronic radiodermatitis) · Favre–Racouchot syndrome
Photoaging • Photosensitivity with HIV infection • Phototoxic tar dermatitis • PhytophotodermatitisCongenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3) Genodermatosis Congenital ichthyosis/
erythrokeratodermiaADARUngroupedIchthyosis bullosa of Siemens · Ichthyosis follicularis · Ichthyosis prematurity syndrome · Ichthyosis–sclerosing cholangitis syndrome · Nonbullous congenital ichthyosiform erythroderma · Ichthyosis linearis circumflexa · Ichthyosis hystrixEB
and relatedJEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)related: Costello syndrome · Kindler syndrome · Laryngoonychocutaneous syndrome · Skin fragility syndrome ·Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndromeEhlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndromeHyperkeratosis/
keratinopathydiffuse: 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 diseasefocal: 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 keratodermaungrouped: Palmoplantar keratoderma and spastic paraplegia • desmoplakin (Carvajal syndrome) • connexin (Erythrokeratodermia variabilis • HID/KID)OtherMeleda disease · Keratosis pilaris · ATP2A2 (Darier's disease) · Dyskeratosis congenita · Lelis syndromeDyskeratosis congenita · Keratolytic winter erythema · Keratosis follicularis spinulosa decalvans · Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome · Keratosis pilaris atrophicans faciei · Keratosis pilarisOthercadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey
see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorderDevelopmental
anomaliesMidlineOther/ungroupedAplasia 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 · BirthmarkCategories:- Abnormalities of dermal fibrous and elastic tissue
- Disease stubs
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