Hereditary focal palmoplantar keratoderma

Author: Dr Amy Stanway, Dermatology Registrar, Nottingham. 2005.

Synonyms:

Howel-Evans syndrome, Tylosis with oeseophageal cancer, Richner Hanhart syndrome, Tyrosinaemia type II, Striate keratoderma, Palmoplantar keratoderma striata, Brunauer-Fohs-Siemens syndrome, Hereditary painful callosities, Carvajal syndrome, Dilated cardiomyopathy with woolly hair and keratoderma, DCWHK, MIM148700, MIM 125647, MIM 607654, MIM 114140, MIM 148500, MIM 276600, MIM 605676

Categories:

Genetic disorder, Scaly disorder

Subcategories:

Pachyonychia congenita, Genetics of focal palmoplantar keratoderma, Treatment of hereditary focal palmoplantar keratoderma, Prognosis of hereditary focal palmoplatar keratoderma

ICD-10:

Q82.8, E70.21, Q84.5

ICD-11:

EC20.3Z, EC20.31, 5C50.12, LD27.Y, BC43.6

SNOMED CT:

239066002, 764958008, 4887000, 39427000, 239073008, 111030006

What are the focal keratodermas?

Focal keratodermas are palmoplantar keratodermas (PPK) that involve only some areas of the palms or soles, usually over pressure points. Some types are associated with abnormalities in organs other than the skin.

Focal palmoplantar keratoderma (areata type)

What causes focal keratodermas?

Hereditary focal palmoplantar keratodermas are caused by a genetic abnormality. They may be inherited from one affected parent (autosomal dominant inheritance) or from both parents, who are generally unaffected (autosomal recessive inheritance). Several family members may be affected. Some types of keratoderma are associated with abnormalities of internal organs.

What are the different types of focal keratodermas?

The many different types of focal hereditary palmoplantar keratoderma look very similar. Some are associated with abnormalities of organs other than the skin.

PPK striata/areata type Hereditary painful callosities	Autosomal dominant inheritance DOES NOT affect organs other than the skin Small areas of skin thickening on palms and soles in childhood ‘Striate’ type: thick lines (particularly on palms or fingers) ‘Areata’ type: circles (particularly on soles of the feet) In most cases, mixed striate and areata thickenings May resemble corns on the soles of the feet The variant, hereditary painful callosities, affect only the feet
Howel-Evans syndrome	Autosomal dominant inheritance Also called tylosis Childhood onset of focal keratoderma Oesophageal cancer in middle age White areas may be seen inside the mouth (leukokeratosis)
Richner-Hanhart syndrome	Autosomal recessive inheritance Due to an enzyme deficiency (tyrosinaemia) Characterised by ulcers on the eye and dislike of bright light in the first year of life Focal keratoderma in late childhood or adolescence Most children have mental retardation Restriction of phenylalanine and tyrosine in the diet is required to improve symptoms and may prevent the progression of mental retardation
Pachyonychia congenita	Several types exist with autosomal dominant inheritance Characterised by thickened wedge-shaped nails Palmoplantar keratoderma tends to be focal The classification depends on which keratin gene is mutated
Striate PPK with woolly hair and dilated cardiomyopathy	Several types exist with autosomal recessive inheritance, including Naxos disease Coarse ‘woolly’ hair from birth Focal keratoderma develops in infancy Heart disease develops in adolescence May result in clubbing of the nails Blistering of the skin may occur

Pachyonychia congenita

What is the treatment of focal hereditary keratodermas?

The following therapies soften the thickened skin and make focal keratoderma less noticeable.

Emollients
Keratolytic agents (eg, 6% salicylic acid in 70% propylene glycol)
Topical retinoids
Topical vitamin D ointment (calcipotriol)
Oral retinoids (acitretin)

What is the prognosis?

Focal hereditary keratodermas persist for life and may be passed on to the next generation.

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Related information

References

OMIM – Online Mendelian Inheritance in Man (search term Hereditary focal palmoplantar keratoderma)

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