diffuse palmoplantar keratoderma

びまん性掌蹠角化症

関

tylosis

WordNet

1. spread out; not concentrated in one place; "a large diffuse organization"
2. move outward; "The soldiers fanned out" (同)spread, spread out, fan out
3. lacking conciseness; "a diffuse historical novel"
4. any skin disorder consisting of a growth that appears horny (同)keratodermia
5. (of light rays) subjected to scattering by reflection from a rough surface or transmission through a translucent material; "diffused light"
6. spreading by diffusion (同)diffusive, dispersive, disseminative

PrepTutorEJDIC

1. 〈光・熱・液体など〉‘を'散らす,放散する,拡散させる / 〈学問・知識など〉‘を'広める,普及させる / 散る,放散する,拡散する / 広まる,普及する / 広く散った,広がった / 〈文体などが〉締まりのない,散漫な

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/11 02:44:40」(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
Specialty	dermatology
ICD-10	L85.1-L85.2, Q82.8
ICD-9-CM	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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• 1. 遺伝性皮膚症 the genodermatoses
• 2. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy
• 3. 表皮水疱症の疫学、病因、分類、および臨床的特徴 epidemiology pathogenesis classification and clinical features of epidermolysis bullosa
• 4. 従来の癌の化学療法による皮膚合併症 cutaneous complications of conventional chemotherapy agents
• 5. 小児における歯周病：関連する全身疾患 periodontal disease in children associated systemic conditions

English Journal

• Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.

• Guo Y1, Shi M2, Tan ZP3, Shi XL4.
• Genetics and molecular research : GMR.Genet Mol Res.2014 Oct 7;13(4):8089-93. doi: 10.4238/2014.October.7.3.
• Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the ge
• PMID 25299193

• Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

• Mizuno O1, Nomura T, Suzuki S, Takeda M, Ohguchi Y, Fujita Y, Nishie W, Sugiura K, Akiyama M, Shimizu H.
• The British journal of dermatology.Br J Dermatol.2014 Oct;171(4):847-53. doi: 10.1111/bjd.13076. Epub 2014 Sep 22.
• BACKGROUND: Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK). Very recently, putative loss-of-function mutations in SERPINB7, which encodes a member of the serine protease inhibitor sup
• PMID 24773080

• KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.

• Ke HP1, Jiang HL2, Lv YS2, Huang YZ2, Liu RR2, Chen XL2, Du ZF2, Luo YQ3, Xu CM3, Fan QH4, Zhang XN5.
• Gene.Gene.2014 Aug 1;546(1):124-8. doi: 10.1016/j.gene.2014.05.048. Epub 2014 May 24.
• Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas. It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months
• PMID 24862219

Japanese Journal

• The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11q13

• LIND L
• Hum Mol Genet 3, 1789-1793, 1994
• NAID 30024453085

Related Links

• 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 ...

• 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 ...

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リンク元	「びまん性掌蹠角化症」
関連記事	「diffuse」「keratoderma」「palmoplantar keratoderma」

「びまん性掌蹠角化症」

　　[★]

英

diffuse palmoplantar keratoderma

関

肥厚化

「diffuse」

　　[★]

• vt.

• (気体・液体など)を放散する

• vi.
• adj.

• 広汎性の、びまん性の

関

diffusely、diffusion、diffusional、diffusive、disseminated、pervasive、spread、widespread

　 　 　 　

「keratoderma」

　　[★]

角皮症、角化症、角化性皮膚疾患、角皮、皮膚角化症

関

cuticle、cuticular、keratoses、keratosis

　

「palmoplantar keratoderma」

　　[★]

掌蹠角化症、掌蹠角皮症、手掌角化症、手掌角皮症

関

palmoplantar keratosis