Female patient, 25 years old, from the state of São Paulo.\nWhen she was ten months old, her mother who brought her to our clinic reporting\nthat the child had had absence of hair, eyelashes and eyebrows since birth. An\nanatomopathological examination performed on the scalp revealed alopecia. One\nyear later she presented desquamative lesions on her fingertips and dystrophic\nfingernails. At two years and six months of age, hyperkeratotic and desquamative\nplaques appeared on her palms.\nAt eight years of age the patient presented a clinical picture of total alopecia\nand nail dystrophy. Hyperkeratotic plaques, initially present on her palms,\ninvolved the soles of feet as well (). Besides, she presented a distal tapering of fingers, which at\nradiological examination showed reduction of soft tissues in distal extremities\nof fingers, acquiring a triangular configuration, and bone structures of normal\nappearance (). A biopsy was done\nwhich revealed absence of hair follicles, but sweat glands with normal features.\nThe patient did not present changes in sudoresis, dentition or hearing.\nWhen she was 14 years old, after being evaluated by a psychologist, emotional\ndamage was observed and depression secondary to the pathology was diagnosed.\nMoreover, learning difficulties were noticed and light mental retardation\ndiagnosed. At the time, the patient wore a hairpiece and presented remission of\npalmoplantar keratoderma after the introduction of topical keratolytics.\nPatient treatment continued with multidisciplinary follow-up (dermatology,\npsychology and genetics). The same patient has two children which were not\naffected by the syndrome and are healthy. The patient's parents are\nphenotypically normal with no consanguinity. Genetic study did not reveal\nsimilar cases in the family. Currently at 25 years of age, the patient is\nperiodically monitored and deals with her pathology in a very conscious way,\ncontinuing with the treatment for palmoplantar keratoderma ().
A 90-year-old Japanese woman presented with a 4-year history of hyperkeratotic lesions on her left heel that had not been improved by topical treatment with salicylic acid petrolatum ointment or 10% urea cream. There was no history of trauma, but she gradually found it hard to walk because of her left heel pain. The patient had been taking clopidogrel, aspirin, azosemide, metformin hydrochloride, and alogliptin benzoate for the treatment of chronic heart failure, angina, and diabetes mellitus, and all of these symptoms had been well controlled. At the first visit, a clinical examination revealed an erythematous plaque with multiple brown macules, ulcer, and hyperkeratosis ().\nDermoscopy demonstrated glomerular vessels with regular arrangement in the ulcer area () and red-black homogeneous areas in the erythematous area (). She had no particular family history. Although we recommended that she undergo a skin biopsy to diagnose the skin lesion, the patient and her family expressed a strong desire to treat the lesion through a single surgical operation because she was at an advanced age, and the possibility of squamous cell carcinoma could not be completely excluded. Therefore, the skin lesion was totally excised.\nThe histopathological examination revealed hyperkeratosis and thin anastomosing strands of cuboidal cells extending from the epidermis to the upper dermis (). Small ductal structures and cystic changes were observed within the interconnected strands of cells. Hematomas were found in the intracorneal region and upper dermis (). No mitotic or dysplastic cells were observed. The cells of the ductal and cystic structures were positive for carcinoembryonic antigen (CEA) (Figures and ). Based on these findings, the lesion was diagnosed as a reactive ESFA.