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Biomedical subjects

C Blanchet-Bardon

Publications and source records attributed to C Blanchet-Bardon.

At least 73 records · Page 4Linked to original sources
PubMed1989

Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.

Ectodermal Dysplasia↗
PubMed1989

Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature.

Kindler's syndrome occurred in a 13-year-old boy with parental consanguinity. The patient had acral congenital blistering and photosensitivity, both regressive, at 12 years of age, together with diffuse progressive poikiloderma, marked cutaneous atrophy, mild hyperkeratosis of the palms, gingival hypertrophy and fragility, and anal stenosis. The ultrastructural study of bullae induced by rubbing showed clefts in three levels of the dermoepidermal junction zone. A review of 14 cases in the literature consistent with Kindler's syndrome showed this to be a definite clinical entity among the other bullous hereditary poikilodermas. In two cases, ultrastructural studies showed intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and the other bullous hereditary poikilodermas.

Adolescent↗
PubMed1988

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.

Acitretin↗
PubMed1988

Malignant acanthosis nigricans associated with non-Hodgkin's lymphoma. Report of 2 cases.

Two cases of malignant acanthosis nigricans associated with non-Hodgkin's lymphoma are presented. A 61-year-old negro male with a diffuse large cell non-Hodgkin's lymphoma presented extensive acanthosis nigricans, pachydermatoglyphy and florid cutaneous papillomatosis. No viral particles were observed by electron microscopic studies of the wart-like lesions. Acanthosis nigricans disappeared under chemotherapy. The second case was a 21-year-old caucasian male with non T non B diffuse large cell non-Hodgkin's lymphoma. Very few cases of acanthosis nigricans associated with non-Hodgkin's lymphoma have been reported in the literature, since to our knowledge these two are only the fourth and fifth. Pachydermatoglyphy and florid cutaneous papillomatosis are markers of malignant acanthosis nigricans.

Acanthosis Nigricans↗
PubMed1987

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred.

We report a large kindred in which palmoplantar keratoderma occurred in association with breast or ovarian cancer or both. This kindred consisted of 61 members of four generations. Thirty-five individuals had palmoplantar keratoderma, including eight women who also had breast or ovarian cancer or both. Five of the six women with breast cancer and both the women with ovarian cancer have died. The proband presented with a yellowish, uniform hyperkeratosis surrounded by a red border covering the entire surface of the palms and soles. Light microscopic examination showed features of epidermolytic hyperkeratosis, and ultrastructural examination revealed the typical markers for this entity, cytolysis and clumps of keratin filaments. This kindred is the first, to our knowledge, to have an association of epidermolytic hyperkeratosis and internal malignancy.

Adult↗
PubMed1987

Clinically specific type of focal palmoplantar keratoderma with sensorineural deafness: an entity.

A case of focal palmoplantar keratoderma with associated sensorineural deafness is reported. The palmoplantar keratoderma was sharply marginated by geometric borders, spared the plantar arch and was accompanied by marked hyperkeratosis of palmar flexural creases. This syndrome, consisting of a very particular type of palmoplantar keratoderma associated with sensorineural deafness, appears to be distinctive enough to be considered as a clinical entity.

Adult↗
PubMed1987

[Dowling-Meara dominant epidermolysis bullosa. An intraepidermal epidermolysis bullosa which hides its prognosis well].

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)

Child↗
PubMed1987

[Antenatal diagnosis of hereditary epidermolysis bullosa].

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.

Epidermolysis Bullosa↗