Editing Palmoplantar keratoderma (section)

== Types ==
Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate.<ref name="Fitzpatrick_2003"/>{{rp|505}}

===Diffuse===

[[Image:Palmoplantet keratoderma new photo.jpg|thumb|Diffuse palmoplantar keratoderma]]

Diffuse palmoplantar keratoderma is a type of palmoplantar keratoderma that is characterized by an even, thick, symmetric hyperkeratosis over the whole of the palm and sole, usually evident at birth or in the first few months of life.<ref name="Fitzpatrick_2003"/>{{rp|505}}  Restated, diffuse palmoplantar keratoderma is an [[autosomal dominant]] disorder in which hyperkeratosis is confined to the palms and soles.<ref name="Bolognia_2007" />  The two major types can have a similar clinical appearance:<ref name="Bolognia_2007" />
* ''Diffuse epidermolytic palmoplantar keratoderma'' (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner", "Vörner's epidermolytic palmoplantar keratoderma", and "Vörner keratoderma"<ref name="Bolognia_2007" />) is one of the most common patterns of palmoplantar keratoderma, an autosomal dominant condition that presents within the first few months of life, characterized by a well-demarcated, symmetric thickening of palms and soles, often with a "dirty" snakeskin appearance due to underlying epidermolysis.<ref name="Fitzpatrick_2003" />{{rp|506}}
* ''Diffuse nonepidermolytic palmoplantar keratoderma'' (also known as "Diffuse orthohyperkeratotic keratoderma", "Hereditary palmoplantar keratoderma", "Keratosis extremitatum progrediens", "Keratosis palmoplantaris diffusa circumscripta", "Tylosis", "Unna–Thost disease", and "Unna–Thost keratoderma"<ref name="Bolognia_2007" />) is inherited as an autosomal dominant condition and is present from infancy, characterized by a well-demarcated, symmetric, often "waxy" [[keratoderma]] involving the whole of the palms and soles.<ref name="Fitzpatrick_2003" />{{rp|506–8}}<ref name="Andrews_2005" />{{rp|213}}

===Focal===
Focal palmoplantar keratoderma, a type of palmoplantar keratoderma in which large, compact masses of keratin develop at sites of recurrent friction, principally on the feet, although also on the palms and other sites, a pattern of calluses that may be discoid (nummular) or linear.
* '' Focal palmoplantar keratoderma with oral mucosal hyperkeratosis'' (also known as "Focal epidermolytic palmoplantar keratoderma",<ref name="Bolognia_2007" /> "Hereditary painful callosities",<ref name="Bolognia_2007" /><ref name="pmid17371662">{{cite journal | vauthors = Ryan P, Baird G, Benfanti P | title = Hereditary painful callosities: case report and review of the literature | journal = Foot & Ankle International | volume = 28 | issue = 3 | pages = 377–8 | date = March 2007 | pmid = 17371662 | doi = 10.3113/FAI.2007.0377 | s2cid = 10787216 }}</ref> "Hereditary painful callosity syndrome",<ref name="Fitzpatrick_2003" /> "Keratosis follicularis",<ref name="Fitzpatrick_2003" /> "Keratosis palmoplantaris nummularis",<ref name="Fitzpatrick_2003" /> and "Nummular epidermolytic palmoplantar keratoderma"<ref name="Bolognia_2007" />) is an autosomal dominant [[keratoderma]] that represents a clinical overlap syndrome with [[pachyonychia congenita type I]] but without the classic nail involvement.<ref name="Fitzpatrick_2003" />{{rp|510}}

===Punctate===
''Punctate palmoplantar keratoderma'' is a form of palmoplantar keratoderma in which many tiny "raindrop" keratoses involve the palmoplantar surface, [[skin lesion]]s which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.<ref name="Fitzpatrick_2003" />{{rp|505}}<ref name="Bolognia_2007" />
* Type 1: ''Keratosis punctata palmaris et plantaris'' (also known as "Autosomal-dominant hereditary punctate keratoderma associated with malignancy", "Buschke–Fischer–Brauer disease", "Davis Colley disease", "Keratoderma disseminatum palmaris et plantaris", "Keratosis papulosa", "Keratoderma punctatum", "Keratodermia punctata", "Keratoma hereditarium dissipatum palmare et plantare", "Palmar and plantar seed dermatoses", "Palmar keratoses", "Papulotranslucent acrokeratoderma", "Punctate keratoderma", "Punctate keratoses of the palms and soles", and "Maculosa disseminata") is a skin condition, an autosomal dominant palmoplantar keratoderma with [[variable penetrance]], characterized clinically by multiple, tiny, punctate keratoses over the entire palmoplantar surfaces, beginning over the lateral edge of the digits.<ref name="Fitzpatrick_2003" />{{rp|509}}<ref name="Andrews_2005" />{{rp|212–213}} It has been linked to 15q22-q24.<ref name="pmid14684683">{{cite journal | vauthors = Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz IM, Davalos NO, Alayan O, Liu J, Gilliam TC, Salas-Alanis JC, Christiano AM | title = Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24 | journal = Journal of Medical Genetics | volume = 40 | issue = 12 | pages = 872–8 | date = December 2003 | pmid = 14684683 | pmc = 1735333 | doi = 10.1136/jmg.40.12.872 }}</ref>
* Type 2: ''Spiny keratoderma'' (also known as "Porokeratosis punctata palmaris et plantaris", "Punctate keratoderma", and "Punctate porokeratosis of the palms and soles") is an autosomal dominant [[keratoderma]] of late onset that develops in patients aged 12 to 50, characterized by multiple tiny keratotic plugs, resembling the spines on a music box, involving the entire palmoplantar surfaces.<ref name="Fitzpatrick_2003" />{{rp|509}}<ref name="Bolognia_2007" />
* Type 3: ''Focal acral hyperkeratosis'' (also known as "Acrokeratoelastoidosis lichenoides", and "Degenerative collagenous plaques of the hand") is a late-onset [[keratoderma]], inherited as an autosomal dominant condition, characterized by oval or polygonal crateriform [[papule]]s developing along the border of the hands, feet, and wrists.<ref name="Fitzpatrick_2003" />{{rp|509}} It is considered similar to Costa acrokeratoelastoidosis.<ref name="pmid15078352">{{cite journal | vauthors = Erkek E, Koçak M, Bozdoğan O, Atasoy P, Birol A | title = Focal acral hyperkeratosis: a rare cutaneous disorder within the spectrum of Costa acrokeratoelastoidosis | journal = Pediatric Dermatology | volume = 21 | issue = 2 | pages = 128–30 | year = 2004 | pmid = 15078352 | doi = 10.1111/j.0736-8046.2004.21208.x | s2cid = 19811383 }}</ref>

===Ungrouped===
* ''Palmoplantar keratoderma and spastic paraplegia'' (also known as "Charcot–Marie–Tooth disease with palmoplantar keratoderma and nail dystrophy"<ref name="Fitzpatrick_2003" />) is an autosomal dominant or [[x-linked dominant]] condition that begins in early childhood with thick focal [[keratoderma]] over the soles and, to a lesser extent, the palms.<ref name="Fitzpatrick_2003" />{{rp|513}}
* ''Palmoplantar keratoderma of Sybert'' (also known as "Greither palmoplantar keratoderma",<ref name="Fitzpatrick_2003" /> "Greither syndrome",<ref name="Bolognia_2007" /> "Keratosis extremitatum hereditaria progrediens",<ref name="Fitzpatrick_2003" /> "Keratosis palmoplantaris transgrediens et progrediens"<ref name="Fitzpatrick_2003" /> "Sybert keratoderma",<ref name="Bolognia_2007"/> and "Transgrediens and progrediens palmoplantar keratoderma"<ref name="Bolognia_2007" />) is an extremely rare autosomal dominant<ref name="pmid14594603">{{cite journal | vauthors = Leonard AL, Freedberg IM | title = Palmoplantar keratoderma of Sybert | journal = Dermatology Online Journal | volume = 9 | issue = 4 | pages = 30 | date = October 2003 | doi = 10.5070/D31QG46424 | pmid = 14594603 | url = http://dermatology.cdlib.org/94/NYU/Nov2002/3.html | url-access = subscription }}</ref> [[keratoderma]] (a skin condition involving horn-like growths) with symmetric severe involvement of the whole palmoplantar surface in a glove-and-stocking distribution.<ref name="Fitzpatrick_2003" />{{rp|509}} It was characterized by [[Aloys Greither]] in 1952.<ref>{{WhoNamedIt|synd|1800}}</ref><ref name="pmid14945735">{{cite journal | vauthors = Greither A | title = [Keratosis extremitatum hereditaria progrediens with genetic dominant] | journal = Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und Verwandte Gebiete | volume = 3 | issue = 5 | pages = 198–203 | date = May 1952 | pmid = 14945735 }}</ref><ref name="pmid16227096">{{cite journal | vauthors = Gach JE, Munro CS, Lane EB, Wilson NJ, Moss C | title = Two families with Greither's syndrome caused by a keratin 1 mutation | journal = Journal of the American Academy of Dermatology | volume = 53 | issue = 5 Suppl 1 | pages = S225-30 | date = November 2005 | pmid = 16227096 | doi = 10.1016/j.jaad.2005.01.139 }}</ref> It was characterized by [[Virginia Sybert]] in 1988.<ref name="pmid2450111">{{cite journal | vauthors = Sybert VP, Dale BA, Holbrook KA | title = Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study | journal = Journal of the American Academy of Dermatology | volume = 18 | issue = 1 Pt 1 | pages = 75–86 | date = January 1988 | pmid = 2450111 | doi = 10.1016/S0190-9622(88)70012-2 }}</ref> An autosomal recessive form which is known as [[Mal de Meleda]] has been described.<ref name=Gurel2019>Gurel G, Cilingir O, Kutluay O, Arslan S, Sahin S, Colgecen E (2019) Patient with Mal de Meleda in whom a novel gene mutation was identified. Eurasian J Med 51(2):206–208</ref> This is associated with mutations in the Secreted Ly-6/uPAR-related protein 1 ([[SLURP1]]) gene.
* ''Striate palmoplantar keratoderma'' (also known as "Acral keratoderma",<ref name="Fitzpatrick_2003" /> "Brünauer-Fuhs-Siemens type of palmoplantar keratoderma",<ref name="Fitzpatrick_2003" /> "Focal non-epidermolytic palmoplantar keratoderma",<ref name="Bolognia_2007" /> "Keratosis palmoplantaris varians",<ref name="Fitzpatrick_2003" /> "Palmoplantar keratoderma areata",<ref name="Bolognia_2007" /> "Palmoplantar keratoderma striata",<ref name="Bolognia_2007" /> "Wachter keratoderma",<ref name="Bolognia_2007" />{{rp|778,785}} and "Wachters palmoplantar keratoderma"<ref name="Fitzpatrick_2003" />) is a cutaneous condition, an autosomal dominant [[keratoderma]] principally involving the soles with onset in infancy or the first few years of life.<ref name="Fitzpatrick_2003" />{{rp|509}}
** Type 1: {{OMIM|148700||none}}: [[Desmoglein 1|DSG1]]
** Type 2: {{OMIM|612908||none}}: [[Desmoplakin|DSP]]
** Type 3: {{OMIM|607654||none}}: [[Keratin 1|KRT1]]
* ''Carvajal syndrome'' (also known as "Striate palmoplantar keratoderma with woolly hair and cardiomyopathy"<ref name="Bolognia_2007" /> and "Striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy",<ref name="Fitzpatrick_2003" />) is a cutaneous condition inherited in an [[autosomal recessive]] fashion, and due to a defect in [[desmoplakin]].<ref name="Bolognia_2007" />{{rp|811}} Striate palmoplantar keratoderma, woolly hair, and left ventricular dilated cardiomyopathy has been described in both autosomal dominant and [[autosomal recessive]] forms, but only the recessive forms have a clear association with dilated cardiomyopathy.<ref name="Fitzpatrick_2003" />{{rp|513}} The skin disease presents as a striate palmoplantar keratoderma with some nonvolar involvement, particularly at sites of pressure or abrasion.<ref name="Fitzpatrick_2003" />{{rp|513}}
* ''Scleroatrophic syndrome of Huriez'' (also known as "Huriez syndrome", "Palmoplantar keratoderma with scleroatrophy",<ref name="Bolognia_2007" /> "Palmoplantar keratoderma with sclerodactyly", "Scleroatrophic and keratotic dermatosis of the limbs", and "Sclerotylosis") is an autosomal dominant [[keratoderma]] with [[sclerodactyly]] present at birth with a diffuse symmetric keratoderma of the palms and soles.<ref name="Fitzpatrick_2003" />{{rp|513}}<ref name="Andrews_2005" />{{rp|576}} An association with 4q23 has been described.<ref name="pmid10631162">{{cite journal | vauthors = Lee YA, Stevens HP, Delaporte E, Wahn U, Reis A | title = A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23 | journal = American Journal of Human Genetics | volume = 66 | issue = 1 | pages = 326–30 | date = January 2000 | pmid = 10631162 | pmc = 1288338 | doi = 10.1086/302718 }}</ref> It was characterized in 1968.<ref name="pmid4298032">{{cite journal | vauthors = Huriez C, Deminatti M, Agache P, Mennecier M | title = [A gene dysplasia not previously known: frequently degenerative sclero-atrophying and keratodermic genodermatosis of the extremities] | language = fr | journal = La Semaine des Hopitaux | volume = 44 | issue = 8 | pages = 481–8 | date = February 1968 | pmid = 4298032 }}</ref>
* ''Vohwinkel syndrome'' (also known as "Keratoderma hereditaria mutilans",<ref name="Bolognia_2007" /> "Keratoma hereditaria mutilans",<ref name="Bolognia_2007" /> "Mutilating keratoderma of Vohwinkel",<ref name="Andrews_2005" />{{rp|213}} "Mutilating palmoplantar keratoderma"<ref name="Bolognia_2007" />) is a diffuse autosomal dominant [[keratoderma]] with onset in early infancy characterized by a honeycombed keratoderma involving the palmoplantar surfaces.<ref name="Fitzpatrick_2003" />{{rp|512}} Mild to moderate sensorineural hearing loss is often associated.<ref name="Fitzpatrick_2003" /> It has been associated with [[GJB2]].<ref name="pmid10369869">{{cite journal | vauthors = Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS | title = A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families | journal = Human Molecular Genetics | volume = 8 | issue = 7 | pages = 1237–43 | date = July 1999 | pmid = 10369869 | doi = 10.1093/hmg/8.7.1237 | doi-access = free }}</ref> It was characterized in 1929.<ref>{{cite journal | vauthors = Vohwinkel KH |title=Keratoma hereditarium mutilans |journal=Archiv für Dermatologie und Syphilis |volume=158 |issue= 2|pages=354–364 |year=1929 |doi=10.1007/bf01826619 |s2cid=1737564 }}</ref>
* ''Olmsted syndrome'' (also known as "Mutilating palmoplantar keratoderma with periorificial keratotic plaques", "Mutilating palmoplantar keratoderma with periorificial plaques"<ref name="Bolognia_2007" /> and "Polykeratosis of Touraine") is a [[keratoderma]] of the palms and soles, with flexion deformity of the digits, that begins in infancy.<ref name="Fitzpatrick_2003" />{{rp|510}}<ref name="Andrews_2005" />{{rp|214}}<ref name="Bolognia_2007" /><ref>{{cite journal | vauthors = Kumar P, Sharma PK, Kar HK | title = Olmsted syndrome | journal = Indian Journal of Dermatology | volume = 53 | issue = 2 | pages = 93–5 | year = 2008 | pmid = 19881998 | pmc = 2763718 | doi = 10.4103/0019-5154.41657 | doi-access = free }}</ref> Treatment with retinoids has been described.<ref name="pmid12704531">{{cite journal | vauthors = Dessureault J, Poulin Y, Bourcier M, Gagne E | title = Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma | journal = [[Journal of Cutaneous Medicine and Surgery]] | volume = 7 | issue = 3 | pages = 236–42 | year = 2003 | pmid = 12704531 | doi = 10.1007/s10227-002-0107-4 | s2cid = 23612959 }}</ref> It has been associated with mutations in TRPV3.<ref>{{cite journal | vauthors = Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y | title = Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome | journal = American Journal of Human Genetics | volume = 90 | issue = 3 | pages = 558–64 | date = March 2012 | pmid = 22405088 | pmc = 3309189 | doi = 10.1016/j.ajhg.2012.02.006 }}</ref>
* ''Aquagenic keratoderma'', also known as ''acquired aquagenic palmoplantar keratoderma'',<ref name="Bolognia_2007" />{{rp|788}} ''transient reactive papulotranslucent acrokeratoderma'',<ref name="Bolognia_2007"/> ''aquagenic syringeal acrokeratoderma'',<ref name="Bolognia_2007"/> and ''aquagenic wrinkling of the palms'',<ref name="Andrews_2005" /> is a skin condition characterized by the development of white [[papule]]s on the palms after water exposure.<ref name="Andrews_2005" />{{rp|215}} The condition causes irritation of the palms when touching certain materials after being wet, e.g., paper, cloth. An association with [[cystic fibrosis]] has been suggested.<ref name="pmid20302572">{{cite journal | vauthors = Garçon-Michel N, Roguedas-Contios AM, Rault G, Le Bihan J, Ramel S, Revert K, Dirou A, Misery L | title = Frequency of aquagenic palmoplantar keratoderma in cystic fibrosis: a new sign of cystic fibrosis? | journal = The British Journal of Dermatology | volume = 163 | issue = 1 | pages = 162–6 | date = July 2010 | pmid = 20302572 | doi = 10.1111/j.1365-2133.2010.09764.x | s2cid = 26018635 }}</ref> The association with cystic fibrosis suggests an increased salt content in the skin.<ref name="abc">{{cite journal | vauthors = Sezer E, Durmaz EÖ, Çetin E, Şahin S | title = Permanent treatment of aquagenic syringeal acrokeratoderma with endoscopic thoracic sympathectomy | journal = Indian Journal of Dermatology, Venereology and Leprology | volume = 81 | issue = 6 | pages = 648–50 | date = 2015 | pmid = 26515860 | doi = 10.4103/0378-6323.168331 | doi-access = free }}</ref>