Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival keratoderma, also known as keratoderma palmoplantaris with gingival hyperkeratosis or Kolari type palmoplantar keratoderma, is a rare inherited skin disorder characterized by the combination of focal thickening of the skin on the palms and soles (palmoplantar keratoderma) together with abnormal thickening of the gums (gingival hyperkeratosis). The condition primarily affects the integumentary system (skin) and oral mucosa. The palmoplantar keratoderma typically presents as well-defined, thick callus-like plaques at pressure points on the palms and soles, particularly over areas subjected to friction and mechanical stress. The gingival involvement manifests as firm, diffuse or focal overgrowth of the gum tissue, which can affect dental health and appearance. Onset typically occurs in childhood, often becoming apparent during the first years of life as the child begins walking and the gums develop. The gingival hyperkeratosis may be present from early childhood and can progressively worsen. The condition is caused by mutations in genes encoding keratins or related structural proteins involved in epithelial integrity. Some cases have been linked to mutations in the KRT16 gene (keratin 16), though genetic heterogeneity exists. There is no cure for focal palmoplantar and gingival keratoderma. Treatment is symptomatic and supportive. Management of the palmoplantar keratoderma includes regular use of emollients, keratolytic agents (such as salicylic acid or urea-based creams), and mechanical debridement of thickened skin. Gingival overgrowth may require periodic surgical reduction (gingivectomy) and meticulous oral hygiene to maintain dental health. Regular follow-up with dermatology and dental specialists is recommended to manage symptoms and prevent complications.

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