ABSTRACT
A family presented to our dermatology clinic with a complaint of white nails. Physical examination revealed clinical feature of leukonychia totalis and the presence of sensorineural hearing loss, palmo plantar keratoderma and knuckle pads (four essential criteria for the diagnosis of Bart Pumphrey syndrome).Three consecutive generations of this family were affected with variable presentations of Bart Pumphrey syndrome in male and female; and autosomal dominant pattern of inheritance.
ABSTRACT
Mycosis fungoides (MF) on extremely rare occasions is associated with vesiculobullous eruptions. We describe a 74-year-old man with previous documented histopathologic diagnosis of poikilodermic-type MF who recently developed flaccid acral bullae on erythematous MF plaques and on normal appearing skin. Histopathology and direct immunofluorescent studies revealed extensive lichenoid changes with intraepidermal bullae. Atypical lymphocyte infiltration was present at the dermoepidermal junction, in bulla fluid, and on the peripheral blood smear, but in lymph node and bone marrow tissue specimens atypical lymphocytes were absent. The plausible cause of these blister formations in cutaneous lymphoma bullosa may be from excessive epidermotropism or toxicity of the tumoral infiltrate.
Subject(s)
Mycosis Fungoides/pathology , Skin Diseases, Vesiculobullous/etiology , Aged , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Chlorambucil/administration & dosage , Fatal Outcome , Humans , Lichenoid Eruptions/etiology , Lichenoid Eruptions/pathology , Male , Mycosis Fungoides/diagnosis , Mycosis Fungoides/drug therapy , Prednisolone/administration & dosage , Shock, Cardiogenic/etiology , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/pathologyABSTRACT
The simultaneous occurrence of multiple cutaneous leiomyomas, uterine leiomyomatosis, and renal cancer is described as a cancer syndrome with an autosomal dominant pattern of inheritance. We report a 79-year-old man who presented with multiple hyperkeratotic, erythematous nodules on his right leg with a histological diagnosis of pilar leiomyoma. In a review of systems, gross hematuria, weight loss, and bone pain were noted. His pathologic diagnosis was determined to be metastatic papillary renal cell carcinoma. A family history revealed that his sister had a hysterectomy for uterine leiomyomas. The findings in this case can be attributed to hereditary leiomyomatosis and renal cell carcinoma syndrome.
