hereditary palmoplantar keratoderma

遺伝性掌蹠角化症

WordNet

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

PrepTutorEJDIC

1. 世襲の,親譲りの / 遺伝的な,遺伝性の

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/29 21:00:45」(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

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 遺伝性皮膚症 the genodermatoses
• 2. 小児における聴覚障害：病因 hearing impairment in children etiology
• 3. 食道癌の疫学、病理生物学、および臨床症状 epidemiology pathobiology and clinical manifestations of esophageal cancer
• 4. 内臓悪性腫瘍の皮膚症状 cutaneous manifestations of internal malignancy
• 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

• [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].

• Chiaverini C1, Bourrat E2, Mazereeuw-Hautier J3, Hadj-Rabia S4, Bodemer C4, Lacour JP5.
• Annales de dermatologie et de venereologie.Ann Dermatol Venereol.2017 Jan;144(1):6-35. doi: 10.1016/j.annder.2016.07.016. Epub 2016 Dec 5.
• PMID 27931749

• Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.

• Charfeddine C1,2, Ktaifi C1, Laroussi N1, Hammami H3,4, Jmel H1, Landoulsi Z1, Badri T3, Benmously R3, Bchetnia M1, Boubaker MS5, Fenniche S3,4, Abdelhak S1, Mokni M6,7.
• Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2016 Dec;30(12):2122-2130. doi: 10.1111/jdv.13787. Epub 2016 Jul 12.
• PMID 27400994

• [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].

• Fatiha EA1, Abdeljalil C1, Ilham K1, Nawal B1, Yassamine B1, Nada Z2, Nafissa B1, Intissar H1.
• The Pan African medical journal.Pan Afr Med J.2016 Jul 1;24:183. eCollection 2016.
• PMID 27795780

Japanese Journal

• 踵部の過角化病変上に生じた無色素性悪性黒色腫の1例―掌蹠角化症に生じた悪性黒色腫の検討―

• 日本皮膚科学会雑誌 120(2), 227-232, 2010
• NAID 130004708734

• Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families

• Journal of dermatological science 54(1), 54-56, 2009-04-01
• NAID 10025333237

• Hereditary Punctate Palmoplantar Keratoderma (PPK) (Brauer-Buschke-Fischer Syndrome)

• Journal of dermatology 31(5), 398-402, 2004-05-01
• NAID 10016129171

Related Links

• Hereditary Palmoplantar (Epidermolytic) Keratoderma

A 21-year-old Muslim, the product of a consanguineous marriage (paternal and maternal grandmothers were sisters) developed progressive papular and ... Soles affected by palmoplantar keratoderma showing immense ...

• Hereditary Palmoplantar (Epidermolytic) Keratoderma

Nielsen PG. Hereditary palmoplantar keratoderma and dermatophytosis in the northernmost county of Sweden (Norrbotten). Acta Derm Venereol Suppl (Stockh). 1994;188:1-60. Sehgal VN, Kumar S, Narayan S. HereditaryInt J ...

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★リンクテーブル★

リンク元	「遺伝性掌蹠角化症」
関連記事	「hereditary」「keratoderma」「palmoplantar keratoderma」

「遺伝性掌蹠角化症」

　　[★]

英

hereditary palmoplantar keratoderma, hereditary palmo-plantar keratosis

ラ

hyperkeratosis congenitalis palmaris et plantaris, keratosis palmaris et plantaris hereditaria

同

先天性手掌足底角化症、先天性掌蹠角化症 congenital palmoplantar keratosis

「hereditary」

　　[★]

• adj.

• 遺伝性の、遺伝の

関

heredity、heritable、inherit、inheritable、inheritable character、inheritance、inherited

　

「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