Figure 1

Dermatological presentation of Olmsted syndrome case. Physical examination revealed hyperkeratotic inflamed periorifical lesions on the face, foot soles, hands and genitals. Growth and development of the patient were severely impaired, with height and weight 4.3 and 6.2 standard deviations below normal, without the onset of puberty. A) Thick and macerated keratoderma on the feet together with onychodystrophy at all digits. B) X-ray of right hand, showing bone resorption and flexion contracture, corresponding with severe impairment of fine and gross motor skills. C) Facial erythematous with keratotic plaques ending sharply at the scalp, together with alopecia totalis, including eyebrows and eye lashes. D) Punch biopsy of scalp (H&E stain, 50×), showing epidermis of normal thickness and orthokeratosis. Hair follicles are rare and present with dilated infundibula and keratin plug. Inflammation and fibrosis is absent. E) Punch biopsy of affected skin (H&E stain,100×), showing confluent parakeratosis of the epidermis and elongation of the rete ridges. Moderate infiltration of mononuclear cells in the superficial dermis and normal deep dermis. F) Affected skin fragment (H&E stain, 100×), with prominent parakeratosis and acanthosis of the epidermis. The papillary dermis contains a moderate mononuclear infiltration.