Biomedical subjects
Publications and source records attributed to Susana Mallo.
Cutaneous involvement of the vulva by Langerhans cell histiocytosis in women older than 70 is a rare phenomenon. A tendency of the disease to involve genital areas, has been described. We present a case of a 72-year-old woman, who had cutaneous vulvar involvement by Langerhans-cell histiocytosis, diagnosed by biopsy. An immunohistochemical study is also described.
Hereditary punctate palmoplantar keratoderma or Buschke-Fisher-Brauer disease is a rare form of keratoderma that follows a pattern of autosomal dominant inheritance with variable penetrance. The age of onset is usually between 12 and 30 years of age. Clinically, it is characterized by the gradual appearance of multiple punctate hyperkeratotic papules, irregularly distributed on the palms and soles, as well as by its possible association with several diseases, primarily with malignant processes. We present the case of a 43-year-old male patient with this disease, with no other associated symptoms, who had a first-degree relative who was affected and died of colon cancer. We also discuss the differential diagnosis with other nosologic entities.
Kindler syndrome is a very rare disease caused by mutations resulting in defects in the extracellular matrix-actin link. It usually presents with acral blistering from birth in trauma-prone areas, pronounced photosensitivity that improves with age and the development of poikiloderma and cutaneous atrophy. Mucosal involvement and degeneration have been described with relative frequency.