A 42-year-old man presented with slowly progressive asymptomatic red plaques on the left foot which developed over 4 years. He was treated by topical corticosteroids with minimal improvement. He had no weight loss, prolonged fever, or night sweat. There was no family history of similar lesions. He had a 7-year history of type 2 diabetes mellitus which was treated with oral metformin and insulin injections. He had undergone amputation of the 1st, 2nd, and 3rd toe of the left foot due to neuropathic arthropathy 5 years earlier.\nPhysical examination revealed two discrete, well-defined, moist, macerated, erythematous, verrucous plaques on a background of diffuse red-brown discoloration on the left foot (fig. , fig. ). Peripheral arterial pulses on both legs were normal and regular. There was no fever, lymphadenopathy, or hepatosplenomegaly. Other physical examinations were within normal limits. A 4-mm punch biopsy specimen was obtained from the lesion for routine histological examination.\nHistopathological results showed multiple foci of thin anastomosing strands of uniform cuboidal cells emanating from the epidermis. The epithelial strands showed ductal differentiation, embedded within fibrovascular stroma (fig. , fig. ). Doppler ultrasound of the left leg showed evidence of severe degree of venous reflux involving the left saphenofemoral junction and common femoral vein.\nIn this case, a complete excision with flap or graft was offered but the patient refused surgery. He was treated with monthly cryotherapy using liquid nitrogen spray and attended follow-ups with surveillance for malignant change. Venous stripping was performed as the treatment for severe venous reflux, which resulted in partial improvement of the lesion.
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.