[Diffuse milia in an infant indicative of Bazex-Dupré-Christol syndrome]. / Grains de milium diffus chez un nourrisson révélateurs d'un syndrome de Bazex, Dupré et Christol.

BACKGROUND: We report two cases of Bazex-Dupré-Christol syndrome in a father and daughter with divergent clinical pictures at two different ages. PATIENTS AND METHODS: A 6-month-old infant was seen with her parents for profuse milia which had appeared when she was 2 months old and persisted ever since. The remainder of the dermatological examination and the psychomotor development tests were normal. Dermatological examination of the father showed atrophic cutaneous lesions with follicular punctuated depressions (like "ice-pick marks") on the back of the hands and the forearms. He also presented diffuse hypotrichosis and hypohydrosis. In addition, he had a history of basal cell carcinoma with surgery before the age of 35 years. Finally, questioning revealed the existence of numerous similar cases in the family. In view of all these factors, a diagnosis of Bazex-Dupré-Christol syndrome was made. DISCUSSION: Bazex-Dupré-Christol syndrome is a genodermatosis with X-linked dominant inheritance. Diagnosis is based on association of follicular atrophoderma, congenital hypotrichosis, hypohydrosis and early basal cell carcinoma. Other than fragile skin and cosmetic blemishes, these tumors are the only complication of the disease and require regular dermatological surveillance and solar protection. Common initial signs of the disease are abnormally profuse milia in neonates that tend to persist throughout childhood. Several differential diagnoses may be evoked.

[Bullous pemphigoid sparing acquired lymphedema]. / Une pemphigoïde bulleuse épargnant un lymphoedème acquis.

BACKGROUND: Bullous pemphigoid is an autoimmune disease, common in the elderly and generally of symmetrical and systemic localization. We report a case with sparing of the lower limb and acquired lymphedema secondary to lymph node surgery. CASE REPORT: A 74-year-old woman was hospitalized for a bullous eruption. The left lower limb was completely spared and was unaffected by pruritus. Acquired lymphedema was seen in this limb secondary to lymph node surgery. Standard histopathology tests confirmed the diagnosis of bullous pemphigoid with subepidermal blistering, while a direct immunofluorescence antibody test showed linear binding of IgG and C3 throughout the basement membrane. Western blotting revealed anti-BPAg2 antibodies. Skin biopsy on the lymphedema spared by the disease revealed no inflammatory infiltrate in the dermis. However, linear binding of anti-IgG and anti-C3 autoantibodies was observed. DISCUSSION: Other cases of localized bullous pemphigoid appearing on body areas treated by UV or radiotherapy have been reported. Cases of bullous pemphigoid with predilection for areas of lymphedema have also been previously described: the hypothesis has been advanced of reduced lymphatic flow, with increased antigen-antibody contact enabling better binding. Our case is original and, given the protective nature of this lymphedema, suggests two hypotheses. There could be deterioration of local cellular immunity, with decreased activation of T lymphocytes. They could also be impairment of nervous conduction, as suggested by the absence of pruritus, with partial or total inhibition of neurogenic inflammation.

[Lymphangioma with epithelial hyperplasia included in a Bardet-Biedl syndrome]. / Lymphangiome avec hyperplasie épithéliale associé à un syndrome de Bardet-Biedl.

INTRODUCTION: The Bardet-Biedl syndrome is a rare autosomal recessive disorder, which associates obesity, pigmentary retinopathy, hexadactyly, hypogenitalism, renal dysfunction and mental retardation. Other abnormalities can be observed in the Bardet-Biedl syndrome, but few cutaneous abnormalities have been described. CASE REPORT: A 41 year-old woman, suffering from a Bardet-Biedl syndrome diagnosed when she was 7 Years old, presented with an atypical pseudo verruca-like, dark red lesion of the interbuttock area that had developed over fifteen Years and had become a handicap. The histological examination revealed a double component: epithelial, papillomatous and acanthosic on the one hand and vascular and lymphatic on the other, suggesting a lymphangioma with epidermal hyperplasia. Magnetic resonance imaging of the sacral area revealed a median subcutaneous lesion, extending deeply to the third coccygial vertebra. DISCUSSION: Such a lymphangioma is unusual. Because it occurred during a rare polymalformative syndrome, we suggest that it may represent a new clinical sign that can be observed during the Bardet-Biedl syndrome.

[Treatment of familial erythermalgia with the association of lidocaine and mexiletine]. / Traitement de l'érythermalgie familiale par l'association lidocaïne-mexilétine.

INTRODUCTION: Erythermalgia is a rare acrosyndrome characterized by reddening of the skin, local increase heat and pain. The disease is frequently resistant to treatment. Recently, Kuhnert et al. presented very favorable results using a combination of lidocaine and mexiletine. We used this treatment in 4 patients suffering from familial erythermalgia. OBSERVATIONS: In a family exhibiting severe familial erythermalgia involving 5 members over 3 generations, we treated 4 patients aged 41, 39, 19 and 15 years. In these patients, the erythermalgia known since early childhood, progressed in the form of multiple flares (6 to 7/day) during the day and at night, lasting several hours and often accompanied by headaches. The impact of the disease on their quality of life was major. Only cold-water baths provided temporary relief, obliging them to live with their "feet in cold water". After they had been informed of the modalities of treatment and in the absence of any contraindication, notably cardiologic, 200 mg (100 mg in the youngest patient) of lidocaine were infused in 4 hours in a single intravenous injection on the first day. Mixelitine was introduced on the second day at the dose of 600 mg in 3 oral intakes (200 mg in the youngest patient). The painful paroxistic symptomatology rapidly improved and the flares had disappeared on the 3dr day, thus permitting the progressive reduction in analgesics and major improvement in quality of life. This beneficial effect persisted with oral mexiletine alone, 2 years after the infusion of lidocaine in the first patient treated (and one year after in the other patients). COMMENTS: Primary familial erythermalgia is highly resistant to treatment. The combined action of lidocain and mexiletine, usually well tolerated (class IB antiarrythmic), blocks the sodium channels. The mechanism of action of their analgesic effect is peripheral or central or even mixed. This benefit warrants confirmation in other forms of erythermalgia.

Scleroderma-like cutaneous lesions induced by paclitaxel: a case study.

Paclitaxel is a recent antineoplastic agent that belongs to the taxane family. Its activity has been demonstrated in advanced and refractory ovarian, breast, lung, and head and neck cancer. Adverse cutaneous reactions to paclitaxel have been reported, namely bullous fixed drug eruption, onycholysis, acral erythema, erythema multiforme, and pustular eruption. We report the first case of scleroderma-like changes after paclitaxel administration. A 63-year-old patient presented with an edematous and infiltrated erythema of the head, neck, axillae, and left hand 10 days after administration of paclitaxel and paraplatin for primitive peritoneal cancer. Cutaneous lesions improved after a change from paclitaxel to cyclophosphamide. Cutaneous lesions recurred 3 months later, after reintroduction of paclitaxel, and progressively evolved to cutaneous sclerosis. Skin biopsy showed a dermal fibrosis. Biologic tests revealed no autoimmunity. Scleroderma-like lesions of this patient were reminiscent of previously reported cases that occurred after administration of docetaxel, which also belongs to the taxan family. Thus, scleroderma-like syndromes seem to represent a unique cutaneous adverse event caused by taxanes.

[Severe cutaneous Streptococcus pyogenes infections in the child: results of a multicenter survey]. / Infections cutanées sévères à Streptococcus pyogenes chez l'enfant: résultats d'une enquête multicentrique.

UNLABELLED: To assess pediatric cases of severe cutaneous infections due to Streptococcus pyogenes. Since the beginning of 1980, the incidence of cellulitis and necrotizing fasciitis due to S. pyogenes has increased in adults. Serotyping of obtained isolates are in most cases M1, M3 or M5 protein. PATIENTS AND METHOD: A retrospective (1990-2000) survey was carried out in pediatric hospital centers. RESULTS: Three cases of necrotizing fasciitis and 15 of cellulitis were observed. In 30% of the cases, vancella lesions were associated; in the other cases, minor wounds were the site of the infection. Bacteriologic diagnosis was made by local samples in 14 cases; blood cultures were positive in four cases. In 11 cases, initial intravenous treatment consisted of third generation cephalosporin, in six cases of penicillin M or G and in one case of fusidic acid. In the second time, penicillin M was perfused in the majority of the cases. Mean duration of intravenous antibiotics perfusion was 15 days. There were no sequelae or death in this survey. CONCLUSIONS: Despite this study had limited epidemiological characteristics, it confirms that these two infections are rare. The frequency is probably underestimated, due to the difficulty in performing a diagnosis. The major site of infection was the varicella lesion. These two infections are so similar that it is frequent to mistake one infection for the other. Nonsteroidal anti-inflammatory drugs and site of infections did not influence prognosis. The treatment of cellulitis is penicillinotherapy whereas in necrotizing fasciitis early major surgery is often correlated with the rate of survival.

[Medium-term renal involvement in adult patients with Henoch-Schönlein purpura]. / Purpura rhumatoïde de l'adulte: evaluation de l'atteinte rénale a moyen terme.

INTRODUCTION: The aim of this study was to estimate the frequency of medium-term renal involvement, in a series of adult patients with Henoch-Schönlein purpura treated in a dermatology department. PATIENTS AND METHODS: Seventeen patients with Henoch-Schönlein purpura followed from 1991 to 1997 in the department of dermatology were included in the study. Renal tests included: research of microscopic hematuria, proteinuria, plasma creatinine levels and calculated creatinine clearance which were measured during initial hospitalization and at the date of the study in May 1998. RESULTS: 10 men and 7 women (mean-age 51 years) were followed up for 39 months (6 to 79 months). Initial renal involvement was observed in 11 patients (65 p. 100). A microscopic hematuria was also observed in 9 patients (53 p. 100), a proteinuria in 6 (35 p. 100), an association of hematuria and proteinuria in 4 (23.5 p. 100). No patient had renal failure. In May 1998, only 2 patients (11.7 p. 100) had renal involvement, that consisted of proteinuria: 3.3 and 3. 9 g/d respectively, with no renal failure. DISCUSSION: The 65 p. 100 frequency of renal involvement discovered during the acute phase of HSP in our series was similar to other series mentioned in the literature, which mainly consisted of hematuria and/or proteinuria. The frequency of long-term renal involvement depends on the origin of patient recruitment. Nephrological studies have reported high levels of renal involvement, that probably overestimated the true frequency. In the present study, as well as in two other studies from a non-nephrological recruitment, the frequency of long-term renal involvement was estimated between 11 p. 100 and 16 p. 100 and was primarily persistent proteinuria. CONCLUSION: The frequency of renal involvement in the adult patient with HSP during the acute phase of the disease and after a medium-term follow-up was approximately 50 p. 100 and between 11 p. 100 to 16 p. 100 respectively.

[Evaluation of histological criteria for bullous pemphigoid. Correlation with antigens recognized by immunoblotting of anti-epidermal autoantibodies]. / Evaluation des critères histologiques de pemphigoïde bulleuse. Relation avec les antigènes reconnus en immunotransfert par les auto-anticorps anti-épiderme.

The aim of this study was to evaluate the histological findings observed in patients with bullous pemphigoid in whom the diagnosis of bullous pemphigoid could be confirmed by direct immunofluorescence and immunoblot serum analysis. Seven histological criteria were considered for selection of skin biopsy specimens: 1) cleavage of dermal epidermal junction; 2) migration of eosinophils along dermal epidermal junction; 3) presence of intra epidermal eosinophils (with or without associated spongiosis); 4) absence of keratinocyte necrosis; 5) absence of acantholysis; 6) absence of dermal fibrosis; 7) absence of vasculitis. Depending on the number of criteria observed the histological picture was considered as: highly suggestive, suggestive or poorly suggestive of bullous pemphigoid. The histological picture was considered as highly suggestive in 50% of cases, suggestive or poorly suggestive in 37% and 13% of cases respectively. Migration of eosinophils along dermal epidermal junction was observed in 23 biopsy specimens (50%). Histological findings considered as poorly suggestive of bullous pemphigoid consisted of a prurigo-like or an eczematous-like or a drug induced-like picture or no specific cutaneous erosions. An histological picture highly suggestive of bullous pemphigoid was observed in 67% of patients whose serum contained anti-BPAG2 antibodies and in only 36% patients of without anti-BPAG2 antibodies (p=0,04). On the contrary, only one bullous pemphigoid patient (4%) with circulating anti-BPAG2 antibodies had a histological picture poorly suggestive of bullous pemphigoid. These findings are in accordance with the pathogenic properties of anti-BPAG2 antibodies demonstrated in animal models. This study showed that: 1) typical histological findings of bullous pemphigoid are only observed in 50% of skin biopsy specimens. 2) The diagnosis of bullous pemphigoid should be considered in elderly patients even when a poorly specific prurigo-like or eczematous-like histological picture is observed. Moreover, it underlines the usefulness of direct immunofluorescence of skin biopsy specimens and indirect immunofluorescence and immunoblot analysis of serum in such atypical cases of bullous pemphigoid.

Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease.

Two lysosomal storage diseases, cystinosis and Fabry disease, were diagnosed clinically in different members of a single sibship. The possibility that the affected sister and brother might have related disorders with disparate manifestations was pursued. The four principal family members were tested for heterozygote status with respect to serum and leukocyte alpha-galactosidase A activity, urinary trihexosylceramide excretion, and the capacity to engage in cystine counter-transport across leukocyte lysosome membranes. Results were consistent with classical autosomal recessive inheritance in the case of cystinosis and X-linked inheritance for Fabry disease, confirming that this family represents an example of two rare disorders occurring in the same sibship.