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 90-year-old Japanese woman presented with a 4-year history of hyperkeratotic lesions on her left heel that had not been improved by topical treatment with salicylic acid petrolatum ointment or 10% urea cream. There was no history of trauma, but she gradually found it hard to walk because of her left heel pain. The patient had been taking clopidogrel, aspirin, azosemide, metformin hydrochloride, and alogliptin benzoate for the treatment of chronic heart failure, angina, and diabetes mellitus, and all of these symptoms had been well controlled. At the first visit, a clinical examination revealed an erythematous plaque with multiple brown macules, ulcer, and hyperkeratosis ().\nDermoscopy demonstrated glomerular vessels with regular arrangement in the ulcer area () and red-black homogeneous areas in the erythematous area (). She had no particular family history. Although we recommended that she undergo a skin biopsy to diagnose the skin lesion, the patient and her family expressed a strong desire to treat the lesion through a single surgical operation because she was at an advanced age, and the possibility of squamous cell carcinoma could not be completely excluded. Therefore, the skin lesion was totally excised.\nThe histopathological examination revealed hyperkeratosis and thin anastomosing strands of cuboidal cells extending from the epidermis to the upper dermis (). Small ductal structures and cystic changes were observed within the interconnected strands of cells. Hematomas were found in the intracorneal region and upper dermis (). No mitotic or dysplastic cells were observed. The cells of the ductal and cystic structures were positive for carcinoembryonic antigen (CEA) (Figures and ). Based on these findings, the lesion was diagnosed as a reactive ESFA.