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.
Types
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 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 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 or linear.
Focal palmoplantar keratoderma with oral mucosal hyperkeratosis 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 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 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 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 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 is an extremely rare autosomal dominant keratoderma 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. An autosomal recessive form which is known as Mal de Meleda has been described. This is associated with mutations in the Secreted Ly-6/uPAR-related protein 1 gene.
Striate 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.
Carvajal syndrome is a cutaneous condition inherited in an autosomal recessive fashion, and due to a defect in desmoplakin. Striate palmoplantar keratoderma, woolly hair, and left ventriculardilated 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 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 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 is a keratoderma of the palms and soles, with flexion deformity of the digits, that begins in infancy. Treatment with retinoids has been described. It has been associated with mutations in TRPV3.
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. The association with cystic fibrosis suggests an increased salt content in the skin.
Usually, a common form of treatment for the condition is a type of hand cream which moisturises the hard skin. However, currently the condition is incurable.
