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P de Giacomoni

Publications and source records attributed to P de Giacomoni.

13 recordsLinked to original sources
PubMed1992

[The Harlequin Baby syndrome. A new case].

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.

Abortion, Therapeutic↗
PubMed1986

[Erythema annulare centrifugum revealing linear IgA dermatitis of childhood].

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.

Adolescent↗
PubMed1980

[Oculo-cutaneous tyrosinosis (Richner-Hanhart syndrome). Histo-pathological study of a case].

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.

Female↗
PubMed1980

[Pemphigus foliaceus in a child. A two years follow-up under steroid. An immunosuppression therapy (author's transl)].

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.

Age Factors↗
PubMed1979

[Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)].

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.

Child, Preschool↗
PubMed1977

[Generalized congenital fibromatosis (author's transl)].

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.

Bone Neoplasms↗
PubMed1970

[Lupoid hepatitis].

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Antibodies, Antinuclear↗