Hereditary Palmoplantar Keratoderma: A Rare Case Report—Pachyonychia Congenita

Elghblawi Ebtisam


Dermatology Nursing. 2009;21(6):351-353. 

In This Article

Case Report

A 10-year-old Caucasian girl presented with history of patchy thicken palms and soles, associated with tubular thickened, yellowish-brown discoloration nails that were projecting upward at the free edge to form a tapering curved roof over a mass of sublingual keratotic debris, which resembled sublingual hyperkeratosis or pincer nails (see Figure 1). These changes affected all 20 nails, and began developing early in life. Moreover she developed painful blisters and callouses on her feet which made walking impossible and unbearable. These changes were associated with hyperhidrosis, which was foul smelling. She also had alopecia of scalp, eyebrows, and eyelashes (see Figure 2). No other family members were affected.

Figure 1.

Clinical examination revealed hyperkeratotic nails of both fingers and toes, together with patchy thickening of palms and soles.

Figure 2.

Total loss of scalp hair, eyebrows, and eyelashes.

Examination revealed that the patient was slightly annoyed with a patchy painful thicken skin on her palms, dorsa of hand, and soles. She had total loss of scalp hair, eyebrows, and eyelashes. Cultures of nails were negative for fungal infections. A diagnosis of PC was made based on clinical findings, especially the characteristic of nail morphology. The eyes were normal. Mucocutaneous examination revealed no presence of leukokeratosis. The remainder of her examination was unremarkable. Results for complete blood count, chemistries, lipid panel, urinalysis, and liver function were normal apart from a slight rise in erythrocyte sedimentation rate (30 mm/hr). Treatment included emollients, such as urea cream 10%; keratolytics; salicylic acid ointment 20% with occlusive dressings to soften the thickened nail plate; and oral retinoids (decutan capsules 20 mg which contains the active substance isotretinoin). The patient showed dramatic improvement to some extent on this treatment.