Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions.

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

Parameatal urethral cyst.

Cyst formation in the parameatal area of the urethra is an uncommon entity. It was first reported in two male cases as recently as 1956 by Thompson and Lantin. Further reports have been rare. Herein, we report a case of a 21 year-old male having a spherical, cystic swelling 1 cm in size at the external urethral meatus. The diagnosis of parameatal urethral cyst was made and the cyst was excised. Histopathological examination revealed a monolocular cyst lined with transitional cells. The postoperative period was uneventful.

Thevenard Syndrome.

Six cases of Thevenard syndrome presented as trophic ulcers on the toes with shortening and loss of pain and temperature sensations. Four cases had spina-bifida out of which two cases had associated faun-tail and one case had hypertrophy of the lower extremity of one side.