["Pseudo-lupus" eruptions in a mother carrying X chromosome-linked chronic septic granulomatosis]. / Eruption "pseudo-lupique" chez und mère transmettrice de la granulomatose septique chronique liée à l'X.

We report the case of a young woman whose son had X-linked chronic granulomatous disease (CGD) while she was gene transmitter and presented with erythematous-squamous dermatosis predominant in unprotected regions, photosensitivity and oral ulcerations. The diagnosis of discoid lupus erythematosus, suggested by the clinical complex, was not confirmed by paraclinical examinations. CGD is an X-linked or, less often, autosomal recessive disease underlain by a selective deficiency of intraleucocytic bactericidal ability. Its clinical manifestations are repeated and severe infections involving most of the body organs. A review of the literature yielded 20 cases resembling that of our patient; all concerned mothers or sisters of children with X-linked CGD. The skin disease usually begins during childhood. The authors describe cutaneous manifestations as a photosensitive infiltrating erythema, frequently suggestive of lupus erythematosus, and oral ulcerations. At light microscopy, these skin lesions show a lymphohistiocytic infiltrate which sometimes erodes the basement membrane or remains at a distance from it. Such images suggest lupus erythematosus or, for some authors, a Jessner-Kanoff syndrome or a lichenoid infiltrate. Direct immunofluorescence was negative in all but one case, and there was usually no laboratory evidence of autoimmunity. In women who transmit the X-linked form of the disease, the bactericidal activity of granulocytes is reduced by 50 p. 100, but infection is not a major problem. The pathogenesis of these disorders is not yet fully understood. However, we would like to draw attention to the studies by Roberts et al. who demonstrated a defective degradation of bacterial DNA by circulating monocytes in patients with systemic or discoid lupus erythematosus.(ABSTRACT TRUNCATED AT 250 WORDS)

Cowden disease in a young girl: gynecologic and immunologic overview in a case and in the literature.

There is an increased risk of cancer (mainly breast cancer) in patients with Cowden disease. Little is known of the etiopathogenic mechanisms of this condition, but immunologic abnormalities may be evoked. A young patient with Cowden disease was submitted for gynecologic examination and immunologic investigations. Although no neoplastic disorder had appeared, laboratory investigations disclosed abnormalities of the humoral and cellular immune compartments in the peripheral blood. This rare observation of gynecologic involvement in a very young girl with family antecedents of Cowden disease prompted a review of the gynecologic features and etiopathogenic bases of Cowden disease. The possible role of neoplasia such as breast cancer in this syndrome makes early diagnosis a criterion for good prognosis.

[Rheumatologic effects of etretinate]. / Effets rhumatologiques de l'étrétinate.

The effects of chronic hypervitaminosis A and long-term isotretinoin treatment on bone include cortical hyperostosis, ligament calcification and premature epiphyseal closure. Similar effects have now been reported in patients under maintenance treatment with etretinate in high doses. Etretinate, an oral, aromatic, synthetic vitamin A derivative, is widely used in Europe for disorders of keratinization. We report the cases of two patients--one with lamellar ichthyosis, the other with pachyonychia congenita--who developed such bone diseases during treatment with etretinate over 2 and 6 years respectively. The doses ranged from 0.5 to 1 mg/kg/day. Two years after starting treatment (total dose 25 g), the patient with lamellar ichthyosis complained of mechanical pain in the lumbar region and hips. Radiography showed calcification of the extraspinal tendons and ligaments and hyperostosis of the calcaneus bone at the insertion of the plantar ligament. After six years of etretinate treatment (total dose 50 g), the patient with pachyonychia congenita presented with scoliosis and limb length discrepancy. The musculoskeletal abnormalities resembled chronic hypervitaminosis A, with such osseous changes as demineralization, thinning and increased curvature of long bones with osteopenia, and premature closure of the epiphyses. Acroosteolysis was also present. Etretinate has been implicated in the formation of spinal hyperostoses and calcification of extraspinal ligaments in patients who had taken the drug for many years. The occurrence of premature epiphyseal closure in children certainly is a consequence of therapy with relatively high doses of etretinate for six years. But premature epiphyseal closure may also result from trauma to a fragile bone.(ABSTRACT TRUNCATED AT 250 WORDS)

[Bullous amyloidosis]. / Amylose bulleuse.

The patient, a 75-year old man, was admitted in May, 1986 for separation of the epidermis and extensive ecchymotic patches. Physical examination showed numerous haemorrhagic erosions on the extensor aspect of the limbs, feet and hands, and wide patches of epidermal separation in the axillary and dorsal regions. Ecchymotic purpura was present on the limbs, abdominal wall, neck and right orbital region. Nikolsky's sign was positive at the periphery of the lesions. Epidermal cysts, 1 to 5 mm in diameter, were visible on the back of the hands and on the upper part of the neck. There was no macroglossia. Several biopsies were performed in both diseased and healthy skin. Light microscopy of the diseased skin showed, at the junction of the papillary and middle dermis, a band of eosinophilic deposit in which were true intradermal bullae containing red cells. Congo red and thioflavine T stainings were positive, forming a dermal band. At direct immunofluorescence IgG, IgA, IgM as well as the C3 and C9 components of complement were absent. At electron microscopy there was no bullous separation at the dermoepidermal junction; the dermal deposits had a dense amyloid-like fibrillar structure without ramifications. Laboratory examinations showed lambda-2 monoclonal gammopathy with normal levels of IgG and IgA and slightly decreased IgM. Bence-Jones protein was found in the ruin. Bone marrow examination showed 8 p. 100 plasmocytes. The diagnosis was: non myelomatous lambda-2 monoclonal dysglobulinaemia. Amyloid deposits were found in biopsies of the gums and rectum. Other investigations gave negative results. Bullous lesions have been reported in about 20 cases of primary amyloidosis.(ABSTRACT TRUNCATED AT 250 WORDS)

[Cutaneous accidents caused by self-defense sprays]. / Accidents cutanés aux bombes d'autodéfense.

The free sale of "self-defence sprays" and the use of such weapons by the police and riot squads account for the increase observed in the frequency of cutaneous accidents. Tear gases. 1. CN, or chloracetophenone, is a compound insoluble in water and soluble in alcohol, ether and carbon sulphide. MACE is CN dissolved in methylchloroform. 2. CS, or orthochlorobenzylidene malononitrile is also insoluble in water and can be used in sprays in concentrations of 2 to 8 p. 100, propelled by such gases as freons. Clinical effects. 1. Experimental. When these gases are suspended in air they mostly act on the eyes, producing blepharospasm, conjunctivitis and photophobia; they have only minor effects on the skin. When applied directly onto the skin they produce extreme irritation with erythema and vesicles. The higher the degree of humidity, the more severe the lesions. In animals and in man CN and CS behave as potential allergens on repeated exposures. 2. Accidental. Tear gases may have two effects: they usually produce irritant dermatitis, but also sometimes a genuine eczema. In aggressors exposed to these sprays the lesions develop in two stages: first, redness and burning sensation on the face--which characteristically is only affected on one side owing to the lateral projection of the tear gas--then, on the following day there appears an oedema similar to Quincke's oedema, with swelling of the eyelids. Oozing rapidly turns to crusts, and in the absence of treatment infection is the rule. Cure requires as many as 10 to 15 days of treatment.(ABSTRACT TRUNCATED AT 250 WORDS)

Candida folliculitis in heroin addicts.

Three heroin addicts had Candida folliculitis of the scalp, beard, and pubis associated with fever, chills, headache, and fatigue. In each case, pseudohyphae were found within a hair and yeasts around it and Candida was recovered from urine. These facts support a systemic dissemination. Since serious ocular and osteoarticular lesions have been described with this type of skin lesion, prompt diagnosis may be important to initiate treatment and prevent sequelae.