Differential Diagnosis for Genetic Condition Causing Overproduction of Keratosis and Overgrowth of Nails

• Single Most Likely Diagnosis
  • Pachyonychia Congenita (PC): A rare genetic disorder characterized by the overproduction of keratin, leading to thickening of the nails and skin, particularly on the palms and soles. The condition often presents with thickened nails, palmoplantar keratoderma, and other skin and mucosal abnormalities, making it the most likely diagnosis given the symptoms.
• Other Likely Diagnoses
  • Howel-Evans Syndrome: Also known as tylosis with oesophageal cancer, this is a rare genetic condition that presents with thickening of the skin on the palms and soles (tylosis) and an increased risk of oesophageal cancer. Nail changes can be part of the syndrome, although they are not as prominent as in PC.
  • Darier Disease: An autosomal dominant genetic disorder that affects the skin and sometimes the nails. It is characterized by keratotic papules in seborrheic areas and can involve nail abnormalities such as red and white longitudinal stripes, V-shaped nicks at the distal end, and subungual hyperkeratosis.
• Do Not Miss Diagnoses
  • Squamous Cell Carcinoma: Although less likely to present primarily with nail overgrowth and keratosis, certain types of skin cancers, including squamous cell carcinoma, can mimic or cause these symptoms. Missing a diagnosis of skin cancer could have severe consequences, making it crucial not to overlook this possibility.
• Rare Diagnoses
  • Naxos Disease: A rare autosomal recessive condition characterized by woolly hair, keratoderma, and cardiomyopathy. Nail changes are not the primary feature but can be part of the syndrome.
  • Carvajal Syndrome: Similar to Naxos disease, with the addition of palmoplantar keratoderma and woolly hair, but with a different genetic cause. Nail involvement is less commonly highlighted but can be part of the clinical presentation.