diffuse nonepidermolytic palmoplantar keratoderma

Diffuse nonepidermolytic palmoplantar keratoderma is a rare inherited skin disorder characterized by diffuse, finely demarcated thickening of the skin on the palms and soles. The condition is linked to pathogenic variants in the KRT1 gene and is inherited in an autosomal dominant manner. Affected individuals present with varying degrees of hyperkeratosis, and while precise prevalence data is not available, the condition is recognized as uncommon in the general population. The disorder typically becomes evident in childhood or early adulthood, although the exact age of onset may vary.

Individuals with this condition exhibit diffuse thickening of the palms and soles with finely demarcated hyperkeratosis. In addition, affected persons often develop knuckle pad-like keratoses on the fingers, as well as hyperkeratosis of the umbilicus and areolae. They may also experience diffuse dry skin, hyperhidrosis, hangnails, and a propensity for fungal infections. Histological examination of lesions typically reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocytic infiltrations in the upper dermis. Not all individuals experience all features, and severity varies considerably.

This disorder is caused by pathogenic variants in the KRT1 gene, which is essential for maintaining the structural integrity of the skin. The autosomal dominant pattern of inheritance means that inheriting a single altered copy of the gene is sufficient to cause the condition. There is notable variability in how the condition presents, even among family members, which is reflective of variable expressivity. Genetic counseling is recommended to help families understand the inheritance pattern and discuss any concerns regarding family planning.

Currently, management focuses on supportive care and symptom alleviation, as there are no treatments specifically approved for this condition. Treatment is individualized and often involves regular dermatologic care to address hyperkeratosis, dry skin, and secondary fungal infections through topical therapies and other supportive measures. Patients are advised to work closely with their healthcare team to tailor a treatment plan that best addresses their needs. In addition, genetic counseling can provide further insight into inheritance and assist with family planning discussions.

The condition is typically lifelong, and outcomes vary widely depending on the severity and specific symptoms present. Many individuals maintain a stable quality of life through diligent symptomatic management and regular dermatologic follow-up. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with dermatologists and genetic counselors who can provide ongoing support, updates on advances, and guidance for managing the condition over time.