Severe early-onset manifestations of pseudoxanthoma elasticum resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB: transient improvement in ectopic calcification with sodium thiosulfate.

Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations. No treatment is currently available for PXE. A young boy presented with severe early-onset systemic calcifications occurring in the skin as elastosis perforans serpiginosa (EPS) and in the arteries, causing mesenteric and limb ischaemia. Analyses revealed deleterious ABCC6, ENPP1 and HBB mutations. The diagnosis of severe PXE was retained and we have coined the term 'PXE+ syndrome' to describe the cumulative effects of the various mutations in this uncommon phenotype. Given the severity, rapid progression and a potentially fatal prognosis, intravenous sodium thiosulfate (STS) was initiated at 25 g three times weekly for 6 months. Numerous side-effects prompted dosage adjustment to 10 g intravenously daily. Treatment efficacy was evaluated at 6 months. Asthaenia, anorexia and pre-/postprandial pain had subsided, entailing weight gain. Abdominal EPS had diminished. Calcific stenosis of the coeliac and mesenteric arteries was no longer detectable on arterial ultrasonography. Follow-up revealed only transient efficacy of STS. Discontinuation of treatment to evaluate the persistence of effects resulted in relapse of the initial symptomatology after 4 months. STS efficacy is conceivably due to strong antioxidant properties and chelation of calcium to form soluble calcium thiosulfate complexes. This case is suggestive of PXE+ syndrome for which STS may represent potential treatment in severe cases. What's already known about this topic? Generalized arterial calcification of infancy may occur in association with ABCC6 mutations and pseudoxanthoma elasticum (PXE) can be linked to ENPP1 mutations. A PXE-like phenotype has also been reported in a subset of patients with inherited haemoglobinopathies, namely sickle cell disease or ß-thalassaemia, related to HBB mutations. To date, there is still no cure for PXE. What does this study add? We report a severe case of PXE resulting from the cumulative effects of several deleterious mutations in ENPP1, ABCC6 and HBB. We suggest the term 'PXE+ syndrome' to describe such patients. Sodium thiosulfate therapy could represent a potential option in severe cases of PXE+ syndrome.

[Cutaneous polyarteritis nodosa in children: three cases]. / Périartérite noueuse cutanée de l'enfant: trois cas.

INTRODUCTION: Polyarteritis nodosa is a necrotizing vasculitis of small and medium-size arteries. The cutaneous form of polyarteritis nodosa follows a chronic course, characterized by recurrent episodes limited to skin, muscles and joints. This entity differs from systemic polyarteritis nodosa in the absence of visceral involvement. This form is rare in children, we describe three cases. CASE REPORTS: We describe three girls with a mean age of 11 years (range: 8-13). They presented painful subcutaneous edematous nodules, arthralgia and fever. Physical examination revealed livedo reticularis (2 cases) and pharyngeal infection (1 case). Laboratory findings showed an inflammatory syndrome. Skin biopsy supported diagnosis of polyarteritis nodosa. The course was characterized by periods of remission disrupted by exacerbations, well controlled by salicylotherapy, colchicine, dapsone or penicillin. Corticosteroid therapy was used only for invalidating symptoms. There was no systemic involvement after 2, 5 and 6 years of follow up. DISCUSSION: Cutaneous polyarteritis nodosa in children must be suspected in presence of fever, subcutaneous nodules, livedo reticularis and arthralgia. Prognosis is usually benign, so we recommend no aggressive treatment. In view of the tendency to relapse, long-term follow-up is appropriate, before confirming diagnosis.

[Mycosis fungoides in the child. Three cases]. / Mycosis fongoïde de l'enfant. Trois cas.

INTRODUCTION: Cutaneous lymphoma is unusual in children but according to data in the literature, approximated 5 p. 100 of the cases observed would begin in childhood. CASE REPORT: We retrospectively studied 3 cases of mycosis fungoides where the first manifestations occurred before 10 years of age. In one of the patients, the diagnosis was not definitively confirmed until adulthood. DISCUSSION: Diagnosis in these forms which begin in childhood is usually achieved after a long delay. Clinically, these lymphomas form a homogeneous group. In approximately 15 p. 100, guttate parapsoriasis occurs before mycosis fungoides. Biopsy is indicated if the lesions change in aspect or become atypical. The most frequent presentation in children or young adults is vitiligoid hypo-pigmented macules. Histologically, childhood forms do not differ from the adult forms and also respond to local treatment as in adults. Prospective studies conducted conjointly by paediatricians and dermatologists would be needed to describe the natural history of these cutaneous lymphomas in light of progression to aggressive lymphoma of Hodgkin's disease described in certain cases.

[Skin manifestations of bilharziasis. Apropos of 24 case reports in Mali]. / Manifestations cutanées des bilharzioses à propos de 24 observationsau Mali.

24 cases cutaneous schistosomiasis are presented. Among these cases, 6 patients have localization of perineum and 18 patients have local blotch pigmented papules. These frequent and typical lesions allow an early diagnostic of this disease and particularly in the child.

[Kaposi's disease in AIDS: 31 cases]. / Maladie de Kaposi au cours du SIDA: 31 cas.

We report 31 cases of AIDS-Kaposi's sarcoma (KS) studied at the Hôpital Saint-Louis, Paris, France, from January 1983 to January 1986. Twenty-nine cases were cutaneous KS and 2 were lymph-node KS. Twenty-eight patients were homosexual or bisexual males, 1 was a woman with transfusion-AIDS and 1 was an intravenous drug-addict; one male had no known risk factor. Thirty were male and 1 female, mean age 35.5 years (+/- 8.4). All were Caucasian and positive for LAV antibodies (Elavia). 17/30 (56.6 p. 100) had a history of syphilis, 16/30 (53.3 p. 100) had a positive TPHA test, 12/30 (40 p. 100) had a history of urethral discharge, 26/31 (87 p. 100) had a history of sexually transmitted disease. 27/30 had antibodies against HBs or HBc. 14/31 (45 p. 100) presented with mild symptoms (fever, loss of weight). 10/28 (36 p. 100) had lymph node enlargement before the first cutaneous lesions of KS developed. Initial involvement included the trunk (32 p. 100), the legs (25 p. 100), the face (21 p. 100) and the lower limbs (11 p. 100). Seventy-one p. 100 of the patients had more than 10 lesions at the initial assessment. The palate was involved in 50 p. 100 of patients, the lymph nodes in 74 p. 100, the stomach in 38 p. 100, the colon in 31 p. 100. In 8 cases pulmonary involvement was present. Altogether, 55 p. 100 of the patients had visceral involvement. Enlargement of the spleen (16 p. 100) and liver (13 p. 100) was also noted. Nineteen p. 100 of the patients had chronic dermatophytic cutaneous infection, 39 p. 100 had oral candidiasis, 32 p. 100 had seborrheic dermatitis, 6 p. 100 had oral hairy leukoplakia and 26 p. 100 had trimethoprim-sulfamethoxazole eruption. Fifty-five p. 100 developed opportunistic infection (OI) (Pneumocystis carinii 8 cases, intestinal cryptosporidiosis 6 cases, cerebral toxoplasmosis 4 cases, CMV pulmonary infection 3 cases). In 14 cases KS preceded OI and in 3 cases OI preceded KS. Biological results are shown in tables II and III. Main findings were: mild inflammatory syndrome (ESR 33 +/- 24 mm, first hour), polyclonal hypergammaglobulinemia (18.6 g/l +/- 5.8), elevation of plasma factor VIII related antigen (191 +/- 66 U/dl), elevation of serum activity of angiotensin-converting enzyme (23.8 +/- 5 nmol/ml/min), low plasmatic cholesterol (3.77 +/- 1.1 mmol/l).(ABSTRACT TRUNCATED AT 400 WORDS)