ABSTRACT
We describe four patients in whom porokeratosis coexisted with lympoedema of the legs. A possible pathogenetic link between the two disorders is discussed, as well as the therapeutic implications and the novel physical sign of lymphoedema bulging through the porokeratotic lesions.
Subject(s)
Leg Dermatoses/etiology , Lymphedema/complications , Porokeratosis/etiology , Aged , Aged, 80 and over , Female , Humans , Leg Dermatoses/pathology , Porokeratosis/pathologyABSTRACT
Epidermal naevi are common and can cause marked cosmetic disability. Ablative laser treatment may be successful in their removal, but may result in significant scarring. Surprisingly the erbium:YAG laser is rarely reported for this indication even though it produces minimal tissue damage. We report our experience using this laser to treat six patients with epidermal naevi. Patients (five female, one male; aged 4-41 years) underwent treatment with pulsed 2940 nm erbium:YAG laser at 0.4-0.45 J/cm(2), 2 mm spot size at 4 pulses/s. All six patients had excellent cosmetic results at follow up ranging from 6 to 60 months. The favourable results were dependent on selection of cases with superficial or small, discrete lesions which could be ablated accurately. The erbium:YAG laser is therefore an effective treatment for relatively nonverrucous or papular epidermal naevi.
Subject(s)
Laser Therapy/methods , Nevus/surgery , Skin Neoplasms/surgery , Adolescent , Adult , Child , Child, Preschool , Erbium , Female , Humans , Male , Neck , Treatment OutcomeABSTRACT
Meningococcal infection is believed to be rare in HIV-positive individuals. We present 2 cases from our reference caseload within the last 10 years.
Subject(s)
Acquired Immunodeficiency Syndrome/complications , HIV Infections/complications , Meningococcal Infections/epidemiology , Adult , Female , Humans , Male , Meningococcal Infections/diagnosis , Meningococcal Infections/therapyABSTRACT
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical cleavage mismatch analysis or by single-strand conformational polymorphism (SSCP). Five mutations were detected in four patients (5.3%), including two novel mutations (W22X and L496R). Nine polymorphisms were detected, seven of which have not been described previously (663A-->G, L190F, IVS6 + 30C-->T, I312V, V449M, Q465R, and 1974G-->A). Six of the nine polymorphisms occurred in patients or controls from the Tswana or Sotho chiefdoms of South Africa and were not found in 50 unrelated European controls. Restriction site assays were established for all 8 pathogenic mutations identified in the FAC gene to date and used to screen a total of 94 unrelated FA patients. This identified only one other group C patient, who was homozygons for the mutation IVS4 + 4A-->T. This study indicates that the proportion of FA patients from complementation group C is generally likely to be less than 10%. Guidelines for the selection of FA patients for FAC mutation screening are proposed.
