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 ().
Female patient, 41 years old, of mixed race, from Tremedal, Bahia, came to the\ndermatology ambulatory reporting that since birth she had not had hair anywhere in\nher body besides nail dystrophy and palmoplantar hyperkeratosis ( and ). She denied previous history of cutaneous neoplasms, dental\nabnormalities, intolerance to heat or other significant medical problems and also\ninformed that two of her siblings presented similar symptoms.\nShe reports that for 10 years coalescent papules and nodules of pinkish color,\nverrucous aspect appeared on her feet and hands, growing in number and size with\ntime. She denied pain, burning sensation or bleeding at the site of the cutaneous\nlesions.\nDuring physical examination the presence of coalescent pinkish papules was noticed,\nforming plaques with cobblestone aspect on the feet, besides alopecia and nail\ndystrophy. Laboratory exams were normal. The possible differential diagnoses of\ncutaneous lesions included diffuse eccrine poromatosis, plane warts, Clouston\nSyndrome, pachyonychia congenita and other forms of ectodermal dysplasias ().\nAn incisional biopsy of the right foot lesion was performed, which revealed thin\ncords of anastomosed epithelial cells in continuity with the epidermis. The cords\nwere composed of round and oval nucleated cells. Luminal structures which varied in\nsize were also found, whose walls contained a single layer of cells. These findings\nwere compatible with the diagnosis of ESFA (. PCR for HPV 10 was negative.