[ family with Bart-Pumphrey syndrome]

All member of family referred to our clinic complaining of white nails. Physical examination revealed clinical features of leukonychia totalis and also the presence of sensorineural hearing loss [SNHL], palmoplantar keratoderma [PPK] and knuckle pads, the four essential criteria for the diagnosis of Bart Pumphrey syndrome. Three generations were affected with variable presentations in male and female and autosomal dominant pattern of inheritance

[ uncommon presentation of pachyonychia congenital]

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal teeth and similar skin blisters in her older brother since his infancy. The patient's clinical presentation and history are consistent with pachyonychia congenita syndrome showing concomitant features of both subtypes 1 and 2, probably due to a new mutation in the responsible gene

[Hereditary leiomyomatosis and renal cell carcinoma [HLRCC syndrome]: a case report]

Recently multiple cutaneous leiomyomas, uterine leiomyoimatosis and renal cancer have been described as a cancer syndrome with autosomal dominant pattern of inheritance. We report a 79-year-old man who presented with multiple hyperkertotic erythematous nodules on his right leg with histological diagnosis of pilar leiomyoma. In his past medical history several systemic complaints such as gross hematuria, weight loss and bone pain were noted and further investigation confirmed histological diagnosis of metastatic papillary renal cell carcinoma. History of uterine leiomyomas and hysterectomy was peresent in his sister. All these findings in this case can be attributed to hereditary leiomyomatosis and renal cell carcinoma syndrome [HLRCC Syndrome]

[Report of a rare case of bullous mycosis fungoides]

Mycosis fungoides [MF], on extremely rare occasions, can be associated with vesiculobullous eruptions. We describe a 74-year-old man with previous documented histopathologic diagnosis of poikilodermic type of MF who recently developed some flaccid acral bullae on erythemoatous MF plaque and normal skin. Histopathology and direct immunoflourscence studies revealed extensive lichenoid changes with intraepidermal bulla. Atypical lymphocyte infiltration was presented in dermoepidermal junction and bulla fluid and peripheral blood smear, but absent in lymph node and bone narrow tissue specimens. The plausible cause of blister formation in cutaneous lymphoma bullosa may be due to excessive epidermotropism or toxic effects of cytokines secrected by the tumoral infiltrate