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.
A 66-year-old male presented with a pruritic, 3×2 cmsized, erythematous brownish solitary plaque with crusted and verrucous surface on the extensor surface of the right thigh (). The lesion developed 6 to 7 years ago, and had been growing slowly. There was no palpable inguinal lymph node enlargement, and the patient had been otherwise healthy. Biopsy revealed epithelial strands extending down to the dermis, forming anastomoses (). Epithelial strands were composed of 2 areas: the upper area consisting of dysplastic cells with prominent nucleoli and abundant mitoses, and the lower area consisting of oval and round cells, and occasionally small luminal ducts (). Dysplastic cells comprised almost the entire epidermis but did not invade into the dermis (). There was a sharp contrast and demarcation between the upper dysplastic lesion and the benign adenomatous lesion immediately surrounding the dysplastic keratinocytes in the lowermost portion of the epidermis (). In immunohistochemical stains, epithelial membrane antigen (EMA) was positive in the dysplastic cells and weakly positive in the ductal structures in the adenomatous lower portion (). p63 was more intensely positive in the dysplastic cells than in the adenomatous cells (). Carcinoembryonic antigen (CEA) stain was weakly positive in the ductal structures in the adenomatous lower portion (). The lesion was diagnosed as a reactive ESFA associated with Bowen's disease and was completely excised with free margins of the tumor. Histopathology of excised tissues was also consistent with reactive ESFA associated with Bowen's disease ().