Pachyonychia congenita Jackson–Lawler type
Pachyonychia Congenita Jackson–Lawler Type
Pachyonychia congenita Jackson–Lawler type is a rare genetic disorder characterized by a variety of skin and nail abnormalities. It is one of the subtypes of Pachyonychia congenita, a group of autosomal dominant disorders caused by mutations in keratin genes.
Clinical Features[edit | edit source]
Patients with Pachyonychia congenita Jackson–Lawler type typically present with:
- Nail Dystrophy: Thickened nails (pachyonychia) are a hallmark of the condition. The nails may appear discolored, ridged, or brittle.
- Palmoplantar Keratoderma: Thickening of the skin on the palms and soles, which can lead to painful calluses and blisters.
- Follicular Hyperkeratosis: Small, rough bumps on the skin, often on the elbows, knees, and other extensor surfaces.
- Oral Leukokeratosis: White patches on the tongue and inside the mouth.
Genetic Basis[edit | edit source]
Pachyonychia congenita Jackson–Lawler type is caused by mutations in the KRT6B or KRT17 genes. These genes encode keratin proteins that are essential for the structural integrity of epithelial cells. Mutations lead to the formation of abnormal keratin filaments, resulting in the clinical manifestations of the disorder.
Diagnosis[edit | edit source]
Diagnosis is primarily clinical, based on the characteristic features of the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the KRT6B or KRT17 genes.
Management[edit | edit source]
There is no cure for Pachyonychia congenita Jackson–Lawler type, and treatment is symptomatic. Management strategies include:
- Pain Management: Analgesics and topical treatments to alleviate pain from palmoplantar keratoderma.
- Nail Care: Regular trimming and care of nails to prevent complications.
- Skin Care: Use of emollients and keratolytic agents to manage hyperkeratosis.
Prognosis[edit | edit source]
The condition is chronic and lifelong, but it is not life-threatening. The severity of symptoms can vary widely among individuals.
Also see[edit | edit source]
Dermatology and Rheumatologic diseases A - Z
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Contributors: Prab R. Tumpati, MD
