A 27-year-old Asian Indian woman presented for preconceptional counseling, with sparse hair on the scalp and eyebrows and dysplastic nails since birth. On examination, she (the proband) had very thin hair on scalp, eyebrows, and eyelashes. Her nails were dysplastic and discolored both on hands and on toes [], but there was the absence of palmoplantar keratoderma []. There were no other abnormal features.\nFamily history revealed that on her mother's side, multiple family members were affected in an autosomal dominant pattern [], but there was a great variability of clinical features. Her mother, maternal aunt, and her children had a history of dystrophic nails and sparse hair, but the maternal uncles and their children had only dystrophic nails since birth. None of them had palmar hyperkeratosis.\nDue to atypical nature of the presentation, molecular testing of the proband was carried out by the study of the gene panel for ectodermal dysplasias at MedGenome Labs, Bangalore. A heterozygous missense variation in exon 5 of the GJB6 gene, c. 31G>A (p. Gly11Arg), was identified, which was sanger validated in molecular laboratory at Sir Ganga Ram Hospital. This variation has previously been reported as recurrent heterozygous mutation in patients with Clouston syndrome (OMIM*604418). This is an autosomal dominant disorder, and the proband was counseled accordingly, with 50% chance of transmission of the disorder to the offspring in each pregnancy.\nShe subsequently returned when she was pregnant. Chorionic villus sampling was done, and analysis of the extracted DNA showed that the baby had inherited the normal allele from the mother.
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 ().