[The Harlequin Baby syndrome. A new case]. / Le syndrome du bébé arlequin. Une nouvelle observation.

The Harlequin baby syndrome is a rare but lethal ichtyosis. We report a new case of a primiparous woman of 28 years of age who had a pregnancy that progressed normally with the delivery of a child of 2,450 grams whose Apgar was 9 at one minute and 10 at three minutes, but who died after living just 24 hours. The reason for this work is to try to analyse the features that are known about possible treatment and antenatal diagnosis of the Harlequin baby syndrome. It has been suggested that vitamin A supplements should be given for several years because the skin state may be improved. On the other hand morbidity is likely to remain serious particularly from the point of view of growth and psychomotor development. Antenatal diagnosis using skin biopsy can be obtained after 23 weeks of amenorrhoea using a fetoscope; it shows the 25% of cases recur. At present the only treatment if a recurrence does occur is to terminate the pregnancy.

[Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)]. / Syndrome de Richner-Hanhart ou tyrosinose oculo-cutanée. A propos d'un cas.

Richner-Hanhart's syndrome correspond to an hypertyrosinemia due to a deficiency of a soluble tyrosine amino-transferase. This recently described tyrosinosis has been called oculo-cutaneous tyrosinosis. This disease transmitted on a recessive way in amenable to a treatment by a low tyrosine diet. In an infant, 18 months old, presenting a bilateral dendritic keratitis, a punctiform keratosis of the extremities, a patchy leucokeratosis of the tongue and a mental ketardation, the hypertyrosinemia reached 52 mg per 100 ml and the urine demonstrated the presence of phenyl-atonic acids. There was no hepato-renal involvement. The deferency of soluble amino-transferase was studied on the hepatocytes and confirmed. The low tyrosine diet made the clinical and biological signs disappear. The improvement was noticeable from the first week on and continued during the 16 months of the follow-up. There was no ill effect of the special diet on the weight and height growth. The oculo-cutaneous tyrosinosis is similar to the experimental form obtained by Schweizer on the rat. The occurrence of intracellular tyrosine crystals probably damages lysosine membrane and the release lysomie proteases induce the cellular lesions.

[Changes in the keratinocytes in oculo-cutaneous tyrosinosis: Richner-Hanhart syndrome (author's transl)]. / Modification des kératinocytes au cours de la tyrosinose oculo-cutanée: syndrome de Richner-Hanhart.

The Richner-Hanhart syndrome corresponds to a tyrosine elevation in serum due to a defect in soluble tyrosine amino-transferase in liver cells. This new enzymopathy which is transmitted in an autosomal recessive mode is called oculo-cutaneous tyrosinosis. It is curable by a low diet in tyrosine and its precursors. The diagnosis has been clinically suggested in an 18 months old girl, by the association of punctate palmar and plantar keratosis, dendritic ulcerated keratitis, and mental retardation. The diagnosis was established by elevation of tyrosinemia up to 52 mg/100 ml associated with a high urinary elimination of tyrosine and phenylcetonic acid. Absence of anomaly in the metabolism of methionin and hepatorenal lesion is characteristic. The diagnosis was confirmed by the absence of soluble tyrosine aminotransferase in liver cells and by the effectiveness of the diet. The clinical keratosis corresponds histologically to a orthokeratotic hyperkeratosis. The keratinocytes show 2 types of anomalies ranged in the epiderm. Intracytoplasmic vacuoles which include or lead to pseudomyelinic formations extend progressively from the mitochondrial alterations in the epidemial basal layers. Bulky polyhedral electron dense particles are found in the cytoplasm of the superficial keratinocytes. Most of these images have been demonstrates anteriorly in the keratinocytes ant the corned; on the other hand, signs of mitochondrial anomaly had not been observed. The genesis of these cellular alterations based on the liberation of lysosomial enzymes by the action of crystals of tyrosine has been suggested by Goldsmith from experimental facts. However, it seems that the mitochondrial defect occurs outside this mechanism.

[Vitiligoid achromias and severe atopic dermatitis. Apropos of 4 cases]. / Achromies vitiligoïdes et dermatite atopique grave. A propos de quatre cas.

Four patients with important and disabling atopic dermatitis persisting during adulthood have presented leucodermia in certain areas of eczema. As melanosomes and melanocytes have totally disappeared in these regions, this depigmentation corresponds thus to an achromia. Clinically, we noted macular achromia with hyperpigmented border of special topography since touching pleat regions initially present eczema lesions: anterior face of wrists and footnecks. Slight lichenification is noted in achromic regions. In spite of many analogies with vitiligo, we differentiate this achromia from vitiligo on the basis of absence of familial post-history and absence of new localisations after 5 to 6 years cause. A review of depigmentations described during atopic dermatitis does not show similar facts. Depigmentation induced by local steroid therapy does not give such clinical and ultrastructural aspects. In 3 patients, there was no local application of depigmenting agent. In one case, 8-oxyquinoleine was applied transiently. Vitiliginous achromias of pleat regions initially presenting important atopic dermatitis are probably due to multifactorial factors: possible factors are inflammation and secondary epidermal modification due to local steroid therapy and may be some excipients. Being a rare situation in atopy, we have registered it only 14 times in 860 followed atopic dermatitis. The study of series of atopic dermatitis followed on a long-term basis should allow to evaluate the frequency of such incidents and the respective role of aetiological factors with we suspect.

[Generalized congenital fibromatosis (author's transl)]. / Fibromatose congénitale généralisée.

About a spontaneously regressive case of osteo-cutaneous congenital fibromatosis, the authors describe the characteristics of the disease (32 observations). Although the majority of cases are sporadic, 3 familial observations are in favour of a dominant autosomal transmission of low penetrance. Study of the familial cases and analysis of the different localisations demonstrate the unicity of the so-called diffuse forms with visceral involvement and of the so-called generalized forms without visceral involvement congenital fibromatosis is characterized by several fibromas at birth: in two-thirds of the cases, it is a purely cutaneous or osteocutaneous form, which disappears spontaneously; in one third of the cases, it is a cutaneous or osteo-cutaneous form with lethal visceral involvement.

[Erythema annulare centrifugum revealing linear IgA dermatitis of childhood]. / Erythème annulaire centrifuge révélateur d'une dermatite à IgA linéaire de l'enfant.

Linear IgA dermatitis was diagnosed in a 13-year old girl with erythema annulare centrifugum (EAC) on the basis of the criteria laid down by Jablonska: vesiculo-bullous eruption with specific patterns on subsequent flare-ups, subepidermal vesicles and bullae with papillary eosinophilic abscesses in erythematous areas, positive linear IgA antibody response at direct immunofluorescence in the lamina basal, absence of intolerance to gluten and responsiveness to sulfapyridine and dapsone. This patient was followed up for 10 years. During the first 5 years any attempt at withdrawing dapsone resulted in quick relapse which always remained responsive to that drug. After 5 years discontinuing dapsone was no longer followed by relapse, and the girl was considered clinically cured. Yet direct immunofluorescence in healthy skin remained positive for 2 years after treatment was stopped, as has previously been reported. At the age of 23, after 5 years without treatment the patient remained cured. This case demonstrates that linear IgA dermatitis is one of the causes of EAC. Autoimmune bullous diseases, such as pemphigus with eosinophilic spongiosis, bullous pemphigoid and dermatitis herpetiformis, are known to present as EAC. Direct cutaneous immunofluorescence is necessary to the aetiological diagnosis of EAC.

[Pemphigus foliaceus in a child. A two years follow-up under steroid. An immunosuppression therapy (author's transl)]. / Pemphigus foliacé de l'enfant. Evolution sous corticothérapie et immunodépresseurs pendant deux ans.

The observation of pemphigus foliaceus out of endemic zone in a six-year-old child is reported. The rate of anti-ICS antibodies is very high (1/6,400). The direct immunofluorescence shows the common aspect of epidermic network between the cells. Fluorescence basement membrane has been found with monospecific anti-C3 sera, and after remission with the monospecific anti-IgG sera. The clinical, histological and immunological relationship between pemphigus foliaceus in its sporadic and endemic forms and pemphigus erythematosus are discussed. The clinical and immunological regression is obtained by association of prednisone and immunodepressive therapy. After two years of treatment the maintenance dosis is not yet reached. A review of ten previous reported cases of pemphigus foliaceus in children in its sporadic form is presented.

Ki-67 and p53 expression in cutaneous Bowen's disease: an immunohistochemical study of fixed-embedded tissue sections.

The monoclonal Ki-67-specific MIB-1 and p53 protein-specific DO-1 antibodies were used to identify proliferating cell fractions on microwave-pretreated paraffin sections of 7 cutaneous Bowen's disease specimens. A high Ki-67 score was characteristic of all cases examined, and significant p53-positivity was seen in 4 cases. In the peritumoral, histologically normal epidermis, Ki-67- and p53-positive cells were frequently present, in one case with very high scores (89% as well as 82%, respectively). These findings indicate an increase in the proliferative activity of the Bowen cells (high Ki-67 score) and that p53 mutations are frequently found in this disease. The p53 expression was not related to the Ki-67 score. The expression of Ki-67 and p53 in morphologically normal epidermal cells is also discussed. The histologically normal epidermal cells expressing p53 and Ki-67 antigens may correspond to pre-malignant clones.

[Oculo-cutaneous tyrosinosis (Richner-Hanhart syndrome). Histo-pathological study of a case]. / Tyrosinose oculo-cutanée (syndrome de Richner-Hanhart). Etude anatomo-pathologique d'une observation.

The Richner-Hanhart syndrome corresponds to a tyrosine elevation in serum due to deficit in soluble tyrosine aminotransferase in liver cells. This new enzymopathy which is transmitted in an autosomal recessive mode is called oculocutaneous tyrosinosis. It is curable by a poor diet in tyrosine and its precursors. The diagnosis has been invoked in a 18 months old girl, on the association of punctuate palmar and plantar keratosis, dentritic ulcerated keratitis, and mental retardation. The diagnosis is confirmed by elevation of tyrosinemia to 52 mgs/100 mls associated with a high urinary elimination of tyrosine and plenylcetonic acid. Absences of anomaly in the metabolism of methionin and hepatorenal absence of disturbance of hepatorenal system is characteristic. The keratosis accompany orthokeratotic hyperkeratosis. The keratinocytes show 2 types of anomaly ranged in strates in the epiderm. Intracytoplasmic vacuoles which include or lead to pseudomyelinic formations extend progressively from the mitochondrial alterations in the epidemial basal layers. Bulky polyhedral electron dense particles are found in the cytoplasm of the superficial keratinocytes. Most of these aspects have been demonstrated anteriorly in the keratinocytes and the cornea; on the other hand, signs of mitochondrial sulferance had not been observed. The genesis of these cellular alterations based on the liberation of lysosomial enzymes by the action of crystals of tyrosine has been suggested by Goldsmith from experimental facts. However, it seems the mitochondrial defect occurs outside this mechanism.