A 2‐year‐old girl was brought to us for the evaluation of sparse curly scalp hair and rough palms and soles since early infancy. The parents also gave history of blisters… Click to show full abstract
A 2‐year‐old girl was brought to us for the evaluation of sparse curly scalp hair and rough palms and soles since early infancy. The parents also gave history of blisters and erosions at sites of minor trauma, which were more frequent during the summer months. This tendency of trauma‐induced skin blistering and erosions had improved gradually with age. There was no history of decreased sweating. Her developmental milestones were not delayed. She was a product of a second‐ degree consanguineous marriage, and her younger sister was also similarly affected. Her weight (10 kgs) and height (82 cm) were below 5th percentile for age. Dermatologic examination showed sparse and woolly scalp hair. A diffuse yellowish hyperkeratosis with a well‐ defined erythematous border and fissuring on the palms and soles was seen (Figure 1). Multiple superficial erosions and postinflammatory pigmented macules were noted on the back and extremities (Figure 2). Keratotic fissured plaques were present at the angles of mouth (Figure 3) and near the superior end of the gluteal cleft. Follicular keratotic papules were present on the bilateral elbows, knees, and lateral upper thighs. Oral hygiene was poor, and dental caries was present. Fingernails were thickened along with subungual hyperkeratosis. Skin biopsy from the palmar keratoderma was done (Figure 4).
               
Click one of the above tabs to view related content.