A 42-year-old man presented with slowly progressive asymptomatic red plaques on the left foot which developed over 4 years. He was treated by topical corticosteroids with minimal improvement. He had no weight loss, prolonged fever, or night sweat. There was no family history of similar lesions. He had a 7-year history of type 2 diabetes mellitus which was treated with oral metformin and insulin injections. He had undergone amputation of the 1st, 2nd, and 3rd toe of the left foot due to neuropathic arthropathy 5 years earlier.\nPhysical examination revealed two discrete, well-defined, moist, macerated, erythematous, verrucous plaques on a background of diffuse red-brown discoloration on the left foot (fig. , fig. ). Peripheral arterial pulses on both legs were normal and regular. There was no fever, lymphadenopathy, or hepatosplenomegaly. Other physical examinations were within normal limits. A 4-mm punch biopsy specimen was obtained from the lesion for routine histological examination.\nHistopathological results showed multiple foci of thin anastomosing strands of uniform cuboidal cells emanating from the epidermis. The epithelial strands showed ductal differentiation, embedded within fibrovascular stroma (fig. , fig. ). Doppler ultrasound of the left leg showed evidence of severe degree of venous reflux involving the left saphenofemoral junction and common femoral vein.\nIn this case, a complete excision with flap or graft was offered but the patient refused surgery. He was treated with monthly cryotherapy using liquid nitrogen spray and attended follow-ups with surveillance for malignant change. Venous stripping was performed as the treatment for severe venous reflux, which resulted in partial improvement of the lesion.
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 ().