Palmoplantar keratoderma

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

Autosomal recessive and dominant, X-linked, and acquired forms have all been described.^{[1]:505[2]:211}

There are also acquired forms of the condition.^[3]

Clinical patterns

Clinically, three distinct patterns of palmoplantar keratoderma may be identified: diffuse, focal, and punctate.^[1]:505:

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.^[1]:505 Restated, diffuse palmoplantar keratoderma is an autosomal dominant disorder in which hyperkeratosis is confined to the palms and soles.^[4] The two major types can have a similar clinical appearance:^[4]

• Diffuse epidermolytic palmoplantar keratoderma (also known as "Palmoplantar keratoderma cum degeneratione granulosa Vörner," and "Vörner's epidermolytic palmoplantar 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," and "Unna-Thost disease") 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 "Hereditary painful callosity syndrome," "Keratosis follicularis," and "Keratosis palmoplantaris nummularis") 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, 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

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," "Keratosis extremitatum hereditaria progrediens," and "Keratosis palmoplantaris transgrediens et progrediens") is an extremely rare autosomal dominant keratoderma with symmetric severe involvement of the whole palmoplantar surface in a glove-and-stocking distribution
• Striate palmoplantar keratoderma (also known as "Acral keratoderma," "Brünauer-Fuhs-Siemens type," "Keratosis palmoplantaris varians," and "Wachters palmoplantar keratoderma") is an autosomal dominant keratoderma principally involving the soles with onset in infancy or the first few years of life
• 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

Genetics

Epidermolytic palmoplantar keratoderma has been associated with keratin 9 and keratin 16.^[5]

Nonepidermolytic palmoplantar keratoderma has been associated with keratin 1 and keratin 16.^[6]

See also

• Keratoderma
• List of cutaneous conditions

References