Therapeutic apheresis exchange in two patients with prolidase deficiency.

BACKGROUND: Prolidase deficiency is a rare genetic disorder for which a cure has not yet been found. OBJECTIVES: To assess the effectiveness of apheresis exchange as a new therapeutic approach. METHODS: Apheresis exchanges were repeated monthly for four consecutive months, in parallel, on two patients, replacing prolidase-deficient red blood cells with normal filtered cells. Prolidase activity and urinary dipeptides were determined at regular intervals. RESULTS: The constant presence of active prolidase inside cells allowed a continuous, although partial, degradation of imidodipeptides, with a concomitant improvement of skin ulceration. CONCLUSIONS: Apheresis exchange could be a reasonable way of obtaining a clinical improvement in these patients.

Clinical trial of the efficacy and safety of oral etretinate with calcipotriol cream compared with etretinate alone in moderate-severe psoriasis.

BACKGROUND: The aim of this clinical trial was to assess the efficacy and safety of calcipotriol cream associated with oral etretinate compared with etretinate alone in the treatment of moderate-severe psoriasis. METHODS: This controlled multicenter trial, within patients (hemiparts), enrolled 86 in- or out-patients (62 males, 24 females), mean (+/-SD) age 57.1 +/- 14.2 years, with psoriasis vulgaris on both sides of the body, and mean (+/-SE) baseline PASI score (Psoriasis Area and Severity Index) 30.7 +/- 0.9. All patients took oral etretinate 50 mg/day and applied calcipotriol cream (50 microg/g) on one half of their body twice a day. Treatment was continued for 9 weeks, and patients were seen every 3 weeks. RESULTS: At the end of the first 3 weeks the PASI score indicated a significant clinical difference between the two sides of the body (P < 0.001, ANOVA), with a reduction of 50.7% in the score for the calcipotriol-treated half, compared with a 39% reduction for the untreated half. By the 9th week of treatment the PASI score was 81.4% lower on the treated half, and 70.3% on the untreated side (P < 0.001, ANOVA). CONCLUSIONS: These findings suggest that patients with moderate-severe psoriasis might benefit from treatment with etretinate plus calcipotriol, with the aim of achieving a faster response and an overall smaller total dose of etretinate.

Familial reticulate acropigmentation of Dohi.

Reticulate acropigmentation (RA) comprises dyschromic disorders that generally have an autosomal dominant pattern of inheritance, Two main forms of RA have been described: reticulate acropigmentation of Kitamura (RAK) and reticulate acropigmentation of Dohi (RAD). We observed a 21-year-old white woman who had progressive reticulate hyper- and hypopigmentation on the volar surface of her forearms and the dorsa of her hands. Many of her relatives have similar lesions. There were no pits or breaks in the epidermal ridge pattern on the palms. A biopsy specimen revealed areas with an excess of melanin in the basal layer alternating with others in which melanin was totally absent, Electron microscopic findings in a hypermelanotic area showed an increased number of melanocytes with high metabolic activity. In the hypomelanotic areas the melanocytes were morphologically abnormal with melanosomes at the early stages of development.

[Pilomatrixoma associated with anetoderma]. / Pilomatricoma associato a cute anetodermica.

The authors describe a pilomatricoma with perilesional anetoderma in a young woman. The papillary dermis showed a complete lack of elastic fibres and epidermal atrophy. Clinical diagnosis of pilomatricoma is possible but histologic examination is required to differentiate it from cystic lesions or other benign appendage tumors. At different rates shadow and basophilic cells must be found. The association of a pilomatricoma with anetoderma appears more frequent than usually reported and is important for clinical diagnosis. The histogenesis of this cutaneous lesion is controversial: probably there is a relation between inflammatory processes of pilomatricomas and lack of elastic fibres.

[Observation of a case of Wells syndrome: ultrastructural study]. / Osservazione di un caso di sindrome di Wells: studio ultrastrutturale.

A new case of Wells' syndrome is reported. Histologically the infiltrate of eosinophils extended to the deep dermis and the subcutaneous fat. The characteristic flame figures are seen in the dermis. Ultrastructurally eosinophils were numerous half of then degranulated. No injury to the vessel walls and collagen bundles were observed. The Authors emphasized that Wells' syndrome is a distinctive entity clinical, on likely autoimmune basis, with multiple triggering factors and peculiar histopathologic but not diagnostic picture.

[Melorheostosis linear scleroderma with osteopoikilosis. Description of a clinical case]. / Sclerodermia lineare meloreostotica con osteopecilia. Descrizione di un caso clinico.

A case of melorheostosis with osteopoikilosis and linear scleroderma is reported. The authors emphasize the rarity of the disease, the complexity of the therapeutic approach to the patient.