7th June 2025

Diagnosis

Presents usually in first few years of life and a positive family history.
Clinical manifestations.
- Predominant clinical manifestations involve a triad of hypertrophic nail dystrophy, plantar keratoderma, and severe plantar pain.
- Nail: Hyperkeratosis in the nail is usually the first manifestation. Some or all the nails can be affected. The affected nail either grows in an up-slanting way due to aggregates of keratin underneath or terminates prematurely exposing the distal nail bed.
- Plantar keratoderma: Usually starts to manifest when the child starts weight bearing and walking. Image Source: Wikimedia Commons (2021). Planter Keratoderma, Licensed under a creative commons licence. Available for free at: https://en.wikipedia.org/wiki/Keratoderma#/media/File:Planter_keratodermaC.jpg (Accessed 22 May 2025).
- Diffuse or focal hyperkeratosis happens causing severe pain.
- Other lesions:
- Oral leukokeratosis appears as grey-white patches on the oral mucosa
- Natal/Prenatal teeth
Histopathology
- Accentuated and prominent keratosis seen on biopsy from plantar keratoderma lesions. On electron microscopy- aggregates of keratin are seen in the spinous layer.

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