Papillon-Lefèvre syndrome. Ultrastructural study and successful treatment with acitretin.

Four siblings affected by Papillon-Lefèvre syndrome (PLS) ranged in age from 2 to 11 years. The parents were unaffected and parental consanguinity was present. The 2-year-old girl showed the early manifestations of PLS; that is, slight gingival swelling and erythema occurring simultaneously with minimal scaling of palms and soles. The other siblings, aged 5, 8, and 11 years, showed severe periodontopathy with tooth loss and marked palmoplantar keratoderma with a centripetal extension of the keratoses to the limbs and trunk. These three older siblings were treated with acitretin (Ro 10-1670), the free acid of etretinate, with complete clearing of the skin and healing of gingival pockets. Treatment was given for 16 months; teeth that erupted during therapy were free of periodontopathy and remained firmly anchored to the alveolar bone. In two of the children ultrastructural examination of involved skin was performed before and during acitretin treatment. Before treatment a large number of lipidlike vacuoles were found in corneocytes and in granulocytes; tonofilaments were reduced in number, and keratohyaline granules frequently showed a rectangular or globular shape. During treatment with acitretin these abnormalities diminished markedly. Thus, etretin is effective in treating PLS and, if treatment is started at an early age, should allow patients with PLS to have normal adult dentition.

[Antenatal diagnosis of hereditary epidermolysis bullosa]. / Le diagnostic anténatal des épidermolyses bulleuses héréditaires.

Among the genetic disorders of the skin, the heterogeneous group of epidermolysis bullosa includes some of the most severe. Prenatal diagnosis is of considerable importance to the families who have had an affected child, or in which one of the parents is affected. The prenatal diagnosis is performed using fetoscopy and fetal skin biopsy. Fetal skin samples are taken at 20 weeks of gestation and are examined by light and electron microscopy to determine whether the fetus is affected. We report here the French experience on prenatal diagnosis of the severe inherited epidermolysis bullosae. Given the severity and frequency of Herlitz syndrome, it is not surprising that this is the most frequently encountered disease in our series of prenatal diagnosis (14 of 21 epidermolysis bullosae), followed by Hallopeau-Siemens (6 cases), and Pasini type (1 case). Our exclusion diagnosis of a Pasini fetus was the first prenatal diagnosis of this type of epidermolysis bullosa performed and reported in the literature. We stress here in this paper that observing the site of separation in the epidermal dermal junction is not sufficient to make a positive prenatal diagnosis. Prenatal diagnosis depends on the observation of the specific ultrastructural marker of the disease such as: hypoplasia and absence of hemidesmosomes and sub-basal dense plate in junctional epidermolysis bullosa-Herlitz, collagenolysis in recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens, and absence and hypoplasia of anchoring fibrils in dominant dystrophic epidermolysis bullosa-Pasini. Until biochemical defects are clarified and suitable tests become available, electron microscopy remains the only current means for reliable, genetically useful, diagnosis of epidermolysis bullosa. In 62 per cent of cases of our series a prenatal diagnosis of exclusion of disease was made and we would stress that in high risk families repeated fetoscopies for prenatal diagnosis are possible in consecutive pregnancies thus allowing the family to have only normal children.

[Dowling-Meara dominant epidermolysis bullosa. An intraepidermal epidermolysis bullosa which hides its prognosis well]. / Epidermolyse bulleuse dominante de Dowling-Meara. Une épidermolyse bulleuse intraépidermique qui cache bien son pronostic.

The epidermolysis bullosa simplex (intraepidermal) disorders represent a heterogeneous group of bullous diseases all inherited in an autosomal dominant mode. The prognosis is usually good and the bullous lesions heal without scarring. We present here three patients affected with intraepidermal epidermolysis bullosa of the Dowling-Meara type with varying prognoses. Case n. 1. This 4-year-old girl was first seen at the age of 15 months for numerous bullous lesions distributed over her entire skin surface and on her oral mucosa. The blisters, first noted shortly after birth, showed an herpetiform distribution and a thick and hyperkeratotic roof. A yellowish palmoplantar keratoderma was also present. At the age of four the bullous eruption remained extremely severe. The family history revealed no similar cutaneous disorders. Histology showed focal intraepidermal separation and ultrastructural examination revealed that the split occurred above the dermoepidermal junction within the basal cell cytoplasm. Tonofilament clumping was observed. The dermoepidermal junction was normal with hemidesmosomes and anchoring fibrils showing no significant abnormalities. Case n. 2. This 8-year-old boy presented at the age of 5 with numerous bullous lesions involving most of the skin surface and mucosa. The family history was unremarkable. The blisters, present since birth, were numerous and were often circinate with central healing. Palmoplantar keratoderma was noted. Electron microscopy showed intraepidermal separation occurring in the basal cell layer with tonofilament clumping.(ABSTRACT TRUNCATED AT 250 WORDS)