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, 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.