Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

We present a female infant exhibiting congenital cutis laxa with retardation of growth and motor development, ligamentous laxity and congenital dislocation of the hips. This connective tissue disorder was associated with Dandy-Walker malformation, atrial and ventricular defect and minor bone abnormalities including multiple wormian bones, abnormal tubulation of long bones and absent twelfth pair of ribs. This association is believed to be unique.

[Hereditary elastolysis].

Several inherited syndromes characterized by abnormal elastic fibers decreased in number and size could be collected under the heading of inherited elastolysis. This morphological concept does not prejudge the causal mechanisms of the elastolysis involving dermis and/or other organs. The elastic fibers anomalies result mainly from elastin crosslinking defects, developmental disturbances or excessive proteolysis.

Clinical and immunologic response to Isoprinosine in alopecia areata and alopecia universalis: association with autoantibodies.

Twenty patients with alopecia universalis, alopecia semiuniversalis and alopecia areata were studied for their immune parameters. Fourteen of them received an oral treatment with Isoprinosine, a synthetic immunomodulator. Ten patients showed the presence of several autoantibodies.

[Dermatofibromas, elastomas and deafness: a new case of the Buschke-Ollendorff syndrome].

The authors propose a new case of Buschke- Ollendorff syndrome: a female patient aged 54 years presents 17 tumoral lesions out of which some are dermatofibromas and other elastomas . Deafness appeared 5 years after the cutaneous lesions and seems to be the result of a pathological condensation of petrous bones.

[Classification and pathogenesis of cutaneous paraneoplastic syndromes].

The associations between skin conditions and malignant tumours are reviewed and classified in two groups: indirect associations (predisposing genetic factor or carcinogenic agent), and direct associations with parallel evolutions corresponding to the true paraneoplastic syndromes. Occasional associations are also mentioned. The cutaneous paraneoplastic syndromes can be classified according to their pathogenic mechanisms, although these are mostly hypothetical, allowing those of secretory, immunological, deficient and neurovascular origins to be distinguished.

[Acquired immunodeficiency syndrome (AIDS) manifested as severe genital herpes. Apropos of 2 cases].

The authors present 2 cases of AIDS revealed by severe recurrent genital herpes simplex. The patients are 2 young, previously healthy, African women without histories of homosexuality or drug abuse. The first patient died after 5 months of follow-up (post mortem findings: viral bronchopneumonia with positive cultures for herpes and cytomegalovirus (CMV), viral colitis due to CMV).

Cutis laxa, congenital form with pulmonary emphysema: an ultrastructural study.

A case of a congenital, autosomal recessive form of generalized cutis laxa with pulmonary emphysema was histologically and ultrastructurally investigated. The cutaneous abnormalities observed seem to result mainly from a developmental defect of the elastic network which is absent in the papillary dermis and blocked at an early state of its formation in the upper and mid-reticular dermis. The union between the two elastic fibre components appears to be defective; the vectorial synthesis is non-existent and the elastic fibres remain in the state of dystrophic elastic units.

Juvenile elastoma (Weidman). An ultrastructural study.

Two cases of juvenile elastoma (nevus elasticus in disseminated tumors) were histologically and ultrastructurally investigated. The predominant components of this disseminated dysembryoplasia are abnormal elastic fibers. Both cases showed numerous large elastic fibers with an abundant background matrix.

Pinguecula and actinic elastosis. An ultrastructural study.

Three cases of pinguecula (conjunctival elastosis) were ultrastructurally investigated. Findings were compared with the features described in cutaneous actinic elastosis. Changes observed were not uniform.

[Complete alpha-1-antitrypsin deficiency in a patient with Ehlers-Danlos syndrome].

Complete alpha-1-antitrypsin deficiency of the type PiOO associated with chronic obstructive lung disease, cutaneous hyperextensibility and hyperlaxity of joints were found in a nineteen-year-old Moroccan boy. On a nosological point of view, this patient could be included as a 8th form, in the Ehlers-Danlos syndrome which now groups seven clinical variants. A causal relationship between the biological deficiency and the clinical alterations (pulmonary, cutaneous and articular) could be assumed according to the biological and ultrastructural findings.

Graft versus host reaction. An ultrastructural study.

Graft versus host reaction (GvH) following leukocytic transfusions occurred in a 34-year-old man with a generalized lymphosarcoma. Histologic and ultrastructural studies were performed, with special reference to dyskeratotic cells scattered in the epidermis. These cells are usually considered to be a constant and important feature of GvH reaction.

alpha1-Antitrypsin deficiency and skin abnormalities.

A 19-year-old Moroccan male was found to have total absence of serum alpha1-antitrypsin, a major inhibitor of elastase. This patient had chronic obstructive lung disease, hyperextensibility of the skin over the cheeks and wrists, and hyperlaxity of the hand joints. Microscopic sections of the skin revealed a thickened dermis with shortened and rarefied elastic fibers.