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Biomedical subjects

H Perrot

Publications and source records attributed to H Perrot.

At least 91 records · Page 5Linked to original sources
PubMed1980

Xeroderma pigmentosum. Ultrastructural study with special reference to abnormalities of the melanin pigmentary system.

Unusual changes in the melanin pigmentary system were observed on a warty papule biopsy taken from a patient with xeroderma pigmentosum (XP). Degenerated melanocytes full of lipids were observed from the basal layer up to the middle of the epidermis. The melanosomes were polymorphous, variable in size and shape with very strange aspects, such as spider-like and whirling configurations. The structure of the macromelanosomes suggests that they are large autophagosomes. These findings are discussed and compared with previous studies.

Child↗
PubMed1980

Urinary porphyrin excretion in various types of porphyria. Thin-layer chromatographic study.

A new method of thin-layer chromatography was used for the study of urinary porphyrins in 42 porphyric patients (27 cases of porphyria cutanea tarda (PCT), 5 cases of porphyria variegata, 4 cases of acute intermittent porphyria, 2 cases of hereditary coproporphyria and 4 cases of erythropoietic protoporphyria), 21 of their clinically normal relatives and 5 controls. The results are compared to previously published data and discussed for the diagnosis of the porphyrias. If urinary porphyrin pattern seems sufficiently pathognomonic for PCT, it appears often unable to allow exact diagnosis of the acute porphyrias; faecal studies and sometimes enzymatic determinations are necessary.

Chromatography, Thin Layer↗
PubMed1980

[Granuloma gluteale infantum: ultrastructural study (author's transl)].

Intracytoplasmic structures resembling rickettsia-like bodies are observed in the dermal macrophages of a case of granuloma gluteale infantum. The cells which contained these bodies show severe necrotic changes. No yeast and nor crystalline structures were observed in the dermal infiltrate. The relevance of these observations is discussed.

Buttocks↗
PubMed1980

[Diagnostic value of café-au-lait spots (author's transl)].

Clinical, histological and ultrastructural studies of café-au-lait spots (C. L. S.) are summarized, in order to establish a differential diagnosis between isolated C. L. S. and C. L. S. associated with polymalformative syndromes. The differential of C. L. S. include nevus spilus and Becker's melanosis. Distinctive clinical and histological features usually differentiate these entities. The incidence of C. L. S. in the general population is about 10 p. 100. It is significantly increased in neurofibromatosis (90 to 100 p. 100), Albright's syndrome (35 p. 100), ataxia telangiectasia (20 p. 100), Silver-Russel syndrome (45 p. 100), Watson's syndrome (60 p. 100), Léopard syndrome (38 p. 100) and Fanconi's anemia. An increased incidence of C. L. S. has been reported in tuberous sclerosis. C. L. S. have been observed in isolated patients with bony skeletal and muscular abnormalities, in Westerhof's syndrome, Leschke's syndrome, Cowden's disease, nevoid basal cell carcinoma syndrome, epidermal nevus syndrome, Gaucher's disease, Hunter's disease, Turner syndrome. Several clinical features of C. L. S. (number, size, distribution, family history) allow to distinguish isolated C. L. S. from C. L. S. associated with polymalformative syndromes. However, the distinction between "normal" and "abnormal" is not always clear cut. A study on the cellular and subcellular characterization of C. L. S. in a case of neurofibromatosis, tuberous sclerosis, Albright's syndrome and ataxia telangiectasia is reported. In each case, the number of epidermal melanocytes, the size of melanosomes and their mode of distribution within epidermal keratinocytes were evaluated. The authors emphasize that no specific histological or ultrastructural "marker" can be helpful for the differential diagnosis between the various forms of C. L. S. (C. L. S. of neurofibromatosis, Albright...).

Ataxia Telangiectasia↗
PubMed1980

[Immunosuppressive therapy and Kaposi's sarcoma: two case reports (author's transl)].

The authors report 2 cases of Kaposi's sarcoma in whose immunosuppressive therapy is implicated. In a 47-year-old Italian man, cutaneous lesions were rapidly aggravated after a renal transplant and treatment with corticosteroids and azathioprine; new lesions appeared close to an arteriovenous fistula of the forearm. In a 83-year-old Algerian man, Kaposi's sarcoma appeared during steroid therapy for bullous pemphigoid. The role of acquired immunosuppression, local predisposition and genetical factors are reviewed and discussed for the pathogenesis of Kaposi's sarcoma.

Aged↗
PubMed1980

Cutaneous hypermelanosis and intramelanotic lipid droplets.

Intramelanocytic lipid droplets have been observed in 12 patients with different types of hypermelanosis of the skin. These include drug-induced hypermelanosis, hypermelanosis secondary to use of physical agents, hypermelanotic morphea, generalized scleroderma with diffuse hypermelanosis, a hyperkeratotic tumor in xeroderma pigmentosum, aberrant mongolian spot, and methoxsalen-ultraviolet-A-induced hypermelanosis. Lipid storage was selectively observed in melanocytes. Most of the melanocytes with lipid vacuoles showed ultrastructural signs of hyperactive melanosome synthesis and certain cytoplasmic abnormalities such as melanosomal autophagic vacuole formation and mitochondrial alterations. The importance and the origin of the lipid droplets remain unclear.

Adult↗
PubMed1980

Idiopathic guttate hypomelanosis. Ultrastructural study.

Idiopathic guattate hypomelanosis (IGH) has been studied histochemically (split-dopa) and ultrastructurally in three patients. Affected skin was compared to normal surrounding skin. Argentic stains revealed a decrease in the melanin content of affected epidemis and pigment granules were irregularly distributed. Split-dopa preparations showed a decrease in the the number of dopa-positive melanocytes in hypomelanotic macules. Most of the melanocytes were rounded in from and either lacked dendrites or had fragmented ones. Ultrastructural study confirmed the progressive loss of epidermal melanocytes in skin affected by IGH and revealed two types of melanocytes, healthy melanocytes with normal melanogenic activity and melanocytes containing few or no immature melanosomes but showing no cellular alterations. Depigmentation in IGH seems to occur in two stages, loss of melanogenic activity in certain malanocytes and elimination of inactive melanocytes. The basic defect in IGH melanocytes may reflect the aging process.

Aged↗
PubMed1979

Ichthyosis nigricans: ultrastructural study of the melanin pigmentary disturbances.

Hyperpigmented skin from a 10-year-old white boy with ichthyosis nigricans has been studied. Histological and ultrastructural studies reveal that the hyperpigmentation is related to both epidermal and dermal hypermelanosis. Melanocytes are hyperactive. The different stages of melanosome synthesis and melanisation appear to be normal. Increased dermal pigmentation probably results from a dischargement of the melanin granules into the dermis secondary to melanocyte alterations. Ichthyosis nigricans is a typical example of melanin pigmentary disturbances of the skin, resulting from disturbances in the normal interactions between melanocytes and keratinocytes.

Child↗
PubMed1979

[Fabry's disease: two patients improved by fetal liver cells (author's transl)].

The first patient reported was a 33 years old male with clinical manifestations of Fabry's disease. The diagnosis was confirmed by ophthalmologic, histological and enzymatic studies. Because of inefficacity of treatment with plasma transfusions and of symptomatic therapies, a transplant of cells with normal enzymatic activities was envisioned. In this patient without renal failure, a renal transplant was not justified and a transplant of fetal liver cells was decided. The improvement of extra-renal manifestations of the disease with this new treatment was comparable to that obtained with kidney transplantation. In particular, objective and subjective clinical symptoms were significantly improved: sweating appeared became normal, cutaneous lesions appeared slightly decreased and pains disappeared. This improvement was still persistent 3 years after the fetal liver transplant, the viability of which was initially followed using dosages of circulating alphafoetoprotein. The second case-report is comparable. Fabry's disease was diagnosed in a 26 years old male on the clinical manifestations, the histological lesions and the enzyme deficiency. After failure of one plasma transfusion, the patient received a fetal liver transplant. It is still too early to evaluate the efficacy of the transplant in this second case, especially as the patient had normal sweating and relatively few pains except at the cold season. The mechanism which may be held responsible for possible improvement in our patients, as in recipients of a kidney transplant, is not completely elucidated. The cells, rather than steroids or azathioprine, seemed to support the efficacy. Was the enzyme activity exerted in situ? Was there a "colonization" by lysosomial enzymes? From the results observed after several years will derive the significance of this therapeutic approach in Fabry's disease, more generally, in many diseases associated with a genetic enzyme deficiency.

Adult↗
PubMed1979

Paracolloid of the skin.

A 51-year-old Caucasian man presented with a yellowish lesion containing multiple protuberances over his right cheek. Light and electron microscopic examination revealed an anhistic substance lacking definite characteristics of either amyloid or collid milium. The term paracolloid degeneration of the skin is introduced to designate this substance which is believed to derive from collagen. A review of the literature showed similar cases previously published under the names of nodular amyloidosis or disseminated colloid.

Amyloid↗
PubMed1979

[Cutaneous reactions to propranolol (author's transl)].

A 17-year-old male patient with eczematous and psoriasiform eruption that developed during long-term therapy with Propanolol (Avlocardyl) has been studied. This eruption disappeared after removal of the drug; oral challenge was soon followed by a vesiculous and bullous eruption of face and extremities; five months later, sun exposure was followed by a severe eczematous eruption in these areas; nails changes were then observed. Most of side-effects of beta-adrenergic blocking drugs have been reported with Practolol: lichenoid, exanthematous, eczematous, psoriasiform rashes; exfoliative dermatitis; oculo-muco-cutaneous reactions; fibrosing polyseritis and drug induced systemic lupus erythematosus manifestations. Adverse effects of other beta-adrenergic blocking agents are less frequent. The pathogenetic mechanism responsible for these adverse reactions is still obscur: these changes might be caused by blockade of the epidermal cells (and T-lymphocytes) beta-receptors, more than by a direct immunologic, allergic or toxic mechanism.

Adolescent↗
PubMed1979

Foetal liver transplant in Fabry's disease.

Two patients, 33 and 26 years old, presented with Fabry's disease and minimal renal involvement. They were treated with a transplant of foetal liver cells exhibiting normal enzymatic activities, after plasma transfusions and symptomatic therapies had proved ineffective. In the first patient, objective and subjective clinical symptoms were significantly improved: sweating appeared, cutaneous lesions seemed slightly decreased and pains disappeared. In the second patient, pains were also seemingly decreased. The mechanism which may be held responsible for improvement of our patients, as of recipients of a kidney transplant, is not completely elucidated. The cells, rather than steroids or azathioprine, seemed to be responsible for the improvement.

Adult↗