A group of inherited skin disorders marked by thickened skin on the palms and soles

What is Hereditary Keratoderma?

Hereditary Keratoderma, also known as Hereditary Palmoplantar Keratoderma (PPK), is a group of genetic skin conditions that cause abnormal thickening (hyperkeratosis) of the palms of the hands and soles of the feet. The condition can range from mild to severe and often begins in early childhood or infancy.

This condition is inherited and occurs due to mutations in specific genes that affect skin growth and keratin production. The skin becomes hard, dry, scaly, and may crack or become painful.

What causes Hereditary Keratoderma?

Hereditary Keratoderma is caused by genetic mutations in genes responsible for the structure and function of the skin, particularly in proteins like keratin. It can be passed on in different patterns, including:

• Autosomal dominant inheritance – passed from one affected parent
• Autosomal recessive inheritance – inherited from both parents (who may not show symptoms)
• Sporadic mutations – sometimes no family history is found

Different subtypes exist, depending on the genetic mutation and clinical presentation.

Who is at risk?

• Children born to a parent with a family history of keratoderma
• Individuals from families with known genetic mutations in keratin-related genes
• People with consanguineous family backgrounds (increased chance of autosomal recessive traits)

What are the symptoms of Hereditary Keratoderma?

Symptoms vary by subtype but generally include:

• Thickened skin on palms and soles
• Dry, rough, scaly patches
• Painful fissures or cracks, especially on the feet
• Increased sweating (hyperhidrosis) in affected areas
• Nail abnormalities in some cases
• May be associated with:
  • Blistering (in epidermolytic forms)
  • Deafness
  • Hair or teeth abnormalities (in syndromic forms)

Symptoms typically appear in infancy or early childhood and often worsen with age or friction.

Types of Hereditary Keratoderma

Some well-known subtypes include:

• Unna-Thost type (non-epidermolytic PPK) – smooth, diffuse thickening
• Vörner type (epidermolytic PPK) – thickening with blistering in early years
• Mal de Meleda – autosomal recessive form with progressive thickening
• Pachyonychia congenita – affects nails, oral mucosa, and palms/soles
• Syndromic forms – occur with other health issues like deafness or dental anomalies

How is Hereditary Keratoderma diagnosed?

Diagnosis is based on clinical features and family history. Tests may include:

• Skin examination by a dermatologist
• Detailed family history and genetic counseling
• Skin biopsy – may show characteristic histological features
• Genetic testing – to confirm mutations in keratin-related genes

How is Hereditary Keratoderma treated?

There is no cure, but treatment focuses on managing symptoms and improving skin condition:

Topical treatments:

• Emollients and moisturizers – applied regularly to soften skin
• Keratolytics – such as salicylic acid, urea, or lactic acid to reduce thickening
• Topical retinoids – help normalize skin growth
• Antibiotics or antiseptics – if secondary infection occurs

Other management strategies:

• Soaking and gentle exfoliation to remove dead skin
• Wearing cushioned, breathable footwear to reduce friction
• Use of gloves during manual tasks to prevent trauma

Advanced options:

• Oral retinoids (e.g., acitretin) – for severe or widespread cases; require monitoring for side effects
• Genetic counseling – for families with inherited forms

What is the prognosis for Hereditary Keratoderma?

• It is a lifelong condition, but symptoms can often be well-managed
• Severity varies; some individuals experience only mild issues, while others may have painful cracks or difficulty walking
• With regular skin care and medical support, most people lead normal lives
• Early diagnosis helps in customizing long-term management

Can Hereditary Keratoderma be prevented?

Since it is genetic, it cannot be prevented, but:

• Genetic counseling is advised for affected families
• Early skin care interventions in children at risk can help minimize symptoms
• Avoiding friction and keeping skin moisturized may reduce flare-ups