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 81-year-old white female patient had had a painful tumor at the lateral malleolus of\nthe right ankle for three years. Physical examination revealed an erythematous tumor\nwith a small central ulceration on the right lateral malleolus ( and ). The\nfollowing hypotheses were formulated: cutaneous annex tumor, fibrosarcoma, schwannoma,\ncutaneous lymphoma, basal cell carcinoma and squamous cell carcinoma. Next, a lesion\nbiopsy was performed.\nHistopathology showed epidermis-derived, intertwined epithelial cords, ending in thin\nprojections. Some of these projections had a typical 'crab claw' appearance. Between\nthese cords, a rich fibrovascular stroma is present (). Light formations of the eccrine ducts were identified within some\nof the cords ().\nThe patient was referred to the plastic surgery service, where surgical excision and\nreconstruction by a reverse-flow supramalleolar flap were done (). Three months postoperatively, the patient was completely\nrecovered ().