palmoplantar keratodermas

同

PPK

WordNet

1. any skin disorder consisting of a growth that appears horny (同)keratodermia

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/17 05:30:27」(JST)

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Palmoplantar keratoderma
A picture of a 40 y/o Caucasian female with only the soles of the feet affected. The amputation was prior to this admission
Classification and external resources
ICD-10	L85.1-L85.2, Q82.8
ICD-9	701.1, 757.39
OMIM	144200 600962
DiseasesDB	32042
eMedicine	derm/589
MeSH	D007645

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.

Autosomal recessive and dominant, X-linked, and acquired forms have all been described.

Clinical patterns

Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate.

Diffuse

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. Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles. The two major types can have a similar clinical appearance:

• Diffuse epidermolytic palmoplantar keratoderma (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," "Vörner's epidermolytic palmoplantar keratoderma", and "Vörner keratoderma") 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.

• 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") 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.

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," "Hereditary painful callosities," "Hereditary painful callosity syndrome," "Keratosis follicularis," "Keratosis palmoplantaris nummularis", and "Nummular epidermolytic palmoplantar keratoderma") is an autosomal dominant keratoderma that represents a clinical overlap syndrome with pachyonychia congenita type I but without the classic nail involvement.

Punctate

Punctate palmoplantar keratoderma is a form of palmoplantar keratoderma in which many tiny "raindrop" keratoses involve the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.

• 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. It has been linked to 15q22-q24.
• 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, mimicking the spines on a music box, involving the entire palmoplantar surfaces.
• 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 papules developing along the border of the hands, feet, and wrists. It is considered similar to Costa acrokeratoelastoidosis.

Ungrouped

• Palmoplantar keratoderma and spastic paraplegia (also known as "Charcot–Marie–Tooth disease with palmoplantar keratoderma and nail dystrophy") 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.

• Palmoplantar keratoderma of Sybert (also known as "Greither palmoplantar keratoderma," "Greither syndrome," "Keratosis extremitatum hereditaria progrediens," "Keratosis palmoplantaris transgrediens et progrediens" "Sybert keratoderma," and "Transgrediens and progrediens palmoplantar keratoderma") is an extremely rare autosomal dominant keratoderma (a skin condition involving horn-like growths) with symmetric severe involvement of the whole palmoplantar surface in a glove-and-stocking distribution. It was characterized by Aloys Greither in 1952. It was characterized by Virginia Sybert in 1988.

• Striate palmoplantar keratoderma (also known as "Acral keratoderma," "Brünauer-Fuhs-Siemens type of palmoplantar keratoderma," "Focal non-epidermolytic palmoplantar keratoderma," "Keratosis palmoplantaris varians," "Palmoplantar keratoderma areata," "Palmoplantar keratoderma striata," "Wachter keratoderma," and "Wachters palmoplantar keratoderma") is a cutaneous condition, an autosomal dominant keratoderma principally involving the soles with onset in infancy or the first few years of life.
  • Type 1: 148700: DSG1
  • Type 2: 612908: DSP
  • Type 3: 607654: KRT1

• Carvajal syndrome (also known as "Striate palmoplantar keratoderma with woolly hair and cardiomyopathy" and "Striate palmoplantar keratoderma with woolly hair and left ventricular dilated cardiomyopathy,") is a cutaneous condition inherited in an autosomal recessive fashion, and due to a defect in desmoplakin. 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. The skin disease presents as a striate palmoplantar keratoderma with some nonvolar involvement, particularly at sites of pressure or abrasion.

• Scleroatrophic syndrome of Huriez (also known as "Huriez syndrome," "Palmoplantar keratoderma with scleroatrophy," "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. An association with 4q23 has been described. It was characterized in 1968.

• Vohwinkel syndrome (also known as "Keratoderma hereditaria mutilans," "Keratoma hereditaria mutilans," "Mutilating keratoderma of Vohwinkel", "Mutilating palmoplantar keratoderma") is a diffuse autosomal dominant keratoderma with onset in early infancy characterized by a honeycombed keratoderma involving the palmoplantar surfaces. Mild to moderate sensorineural hearing loss is often associated. It has been associated with GJB2. It was characterized in 1929.

• Olmsted syndrome (also known as "Mutilating palmoplantar keratoderma with periorificial keratotic plaques," "Mutilating palmoplantar keratoderma with periorificial plaques" and "Polykeratosis of Touraine") is a keratoderma of the palms and soles, with flexion deformity of the digits, that begins in infancy. Treatment with retinoids has been described.

• Aquagenic keratoderma, also known as acquired aquagenic palmoplantar keratoderma,transient reactive papulotranslucent acrokeratoderma, aquagenic syringeal acrokeratoderma, and aquagenic wrinkling of the palms, is a skin condition characterized by the development of white papules on the palms after water exposure. 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.

Genetics

Epidermolytic palmoplantar keratoderma has been associated with keratin 9 and keratin 16.

Nonepidermolytic palmoplantar keratoderma has been associated with keratin 1 and keratin 16.

See also

• Keratoderma
• List of cutaneous conditions

References

UpToDate Contents

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• 5. 汗孔角化症 porokeratosis

English Journal

• Osteonecrosis of the Jaw in Association With Chemotherapy in the Setting of Cutaneous T-Cell Lymphoma.

• DeSesa CR1, Appugounder S2, Haberland C3, Johnson MP4.
• Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.J Oral Maxillofac Surg.2016 Feb;74(2):292-301. doi: 10.1016/j.joms.2015.07.019. Epub 2015 Aug 3.
• T-cell lymphomas (TCLs) account for approximately 15 to 20% of all non-Hodgkin lymphomas in the United States. The most common form of TCL is cutaneous TCL (CTCL), with Sézary syndrome and mycosis fungoides being the most prevalent subtypes. Sézary syndrome is the more aggressive form and often is
• PMID 26296596

• Connexin channels in congenital skin disorders.

• Lilly E1, Sellitto C2, Milstone LM1, White TW3.
• Seminars in cell & developmental biology.Semin Cell Dev Biol.2016 Jan 13. pii: S1084-9521(15)30009-4. doi: 10.1016/j.semcdb.2015.11.018. [Epub ahead of print]
• Gap junctions and hemichannels comprised of connexins influence epidermal proliferation and differentiation. Significant advances in our understanding of the functional role of connexins in the skin have been made by studying the diseases caused by connexin mutations. Eleven clinically defined cutan
• PMID 26775130

• From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.

• García IE1, Bosen F2, Mujica P1, Pupo A1, Flores-Muñoz C1, Jara O1, González C1, Willecke K3, Martínez AD4.
• The Journal of investigative dermatology.J Invest Dermatol.2016 Jan 8. pii: S0022-202X(15)00085-8. doi: 10.1016/j.jid.2015.11.017. [Epub ahead of print]
• The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID mutations lead to
• PMID 26777423

Japanese Journal

• Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders

• IKEJIMA AYAKO,SUGA YASUSHI,MIZUNO YUKI,HARUNA KUNITAKA,TANEDA KENICHI,KOUROU KAZUHIRO,SHIMIZU TOSHIAKI,YOSIIKE TAKASHI,OGAWA HIDEKI,IKEDA SHIGAKU
• 順天堂医学 58(2), 135-142, 2012
• … ichthyoses, palmoplantar keratodermas (PPK), and macular- and punctuate-type keratodermas. … Macular/punctuate-type keratodermas (8 cases: 10.4%) included 4 cases of Dariers disease. …
• NAID 130005058675

• Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21

• ZHANG XJ
• J Invest Dermatol 122, 1121-1125, 2004
• NAID 30014532867

• Hereditary Palmoplantar Keratodermas in South India

• GULATI Sanjeev,THAPPA Devinder Mohan,GARG Bhagat Ram
• Journal of dermatology 24(12), 765-768, 1997-12-01
• NAID 10016266926

Related Links

• Palmoplantar keratoderma. DermNet NZ

Diffuse hereditary palmoplantar keratodermas Unna-Thost type (autosomal dominant) Vorner's type (autosomal dominant) Mal de Meleda type (autosomal dominant or recessive) Huriez syndrome (autosomal dominant) Olmsted ...

• Diffuse hereditary palmoplantar keratodermas. DermNet NZ

Diffuse hereditary palmoplantar keratodermas. Authoritative facts about the skin from DermNet New Zealand. ... Diffuse palmoplantar keratoderma associated with other abnormalities Deafness Vohwinkel syndrome is an autosomal ...

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リンク元	「PPK」
関連記事	「keratoderma」

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palmoplantar keratodermas

「keratoderma」

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角皮症、角化症、角化性皮膚疾患、角皮、皮膚角化症

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cuticle、cuticular、keratoses、keratosis