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M Paradisi

Publications and source records attributed to M Paradisi.

At least 37 records · Page 2Linked to original sources
PubMed1996

A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermis bullosa is ultrastructurally characterized by the absence of anchoring fibrils, and genetic analyses have revealed that recessive dystrophic epidermolysis bullosa results from mutations in the type VII collagen gene (COL7A1). The mutations disclosed thus far are largely family specific, with no evidence for mutational hotspot(s). In this study, we report a recurrent premature termination codon mutation detected in two apparently unrelated Italian families in different regions of the country. This mutation, 497insA in exon 4 of COL7A1, was found in combination with two different premature termination codon mutations in these families. Haplotype analysis suggested a shared genetic background in the allele containing the mutation 497insA, suggesting that this genetic lesion may represent an ancestral mutation within the Italian gene pool.

Adult↗
PubMed1996

Three-dimensional distribution of basement membrane components in dystrophic recessive epidermolysis bullosa.

Absent or defective collagen VII at the dermo-epidermal junction is the hallmark of dystrophic recessive epidermolysis bullosa. Little is known of the alterations of other collagenous and non-collagenous components of the basement membrane; it is likely that their assembly may be disturbed by the lack of collagen VII molecules. The spatial relationship of collagen IV and laminin has been studied, both in bullous and in non-bullous areas. Skin biopsies from five patients affected by severe dystrophic recessive epidermolysis bullosa were rapidly frozen and freeze-dried. Collagen IV and laminin were labelled with specific monoclonal antibodies and FITC- or TRITC-conjugated secondary antibodies. Sections were observed with conventional light/fluorescence microscopy and with confocal laser scanning microscopy. Collagen IV and laminin were not co-localized: the former displayed a split image, being present at the floor and the roof of the blister, while the latter was confined to the roof. Confocal microscopy also allowed three-dimensional (3D) reconstruction of the dermo-epidermal junction from a series of optical sections, with viewing of the reconstructed specimen from a sequence of angles. By this procedure, laminin exhibits an irregular, coarsely granular distribution, both in affected and in apparently non-affected areas, while collagen IV appears as a homogeneous sheet. These results show that freeze-drying is the technique of choice for high-resolution immunofluorescence of skin samples and suggest that in dystrophic recessive epidermolysis bullosa, a complex disruption of the extracellular matrix assembly exists even before blister formation, probably due to the lack of collagen VII.

Basement Membrane↗
PubMed1995

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa.

We recently demonstrated strong genetic linkage between the type VII collagen gene (COL7A1) and both the dominant and recessive forms of dystrophic epidermolysis bullosa. In this study, we searched for mutations in dominant dystrophic epidermolysis bullosa using polymerase chain reaction amplification of segments of COL7A1, followed by heteroduplex analysis. Examination of the polymerase chain reaction corresponding to exon 73 revealed a heteroduplex resulting from a G-to-A transition at nucleotide 6127 in the triple-helical domain of COL7A1, which converted a glycine residue to an arginine (G2043R). The dominant dystrophic epidermolysis bullosa phenotype in this family probably arose because of a dominant negative effect of this mutation in COL7A1, resulting in the formation of structurally abnormal anchoring fibrils.

Arginine↗
PubMed1995

Lipoid proteinosis: clinical, histologic, and ultrastructural investigations.

The case of a 12-year-old boy with lipoid proteinosis is reported. Physical examination revealed long-standing varicella-like scars and areas of hyperpigmentation on the face and upper limbs with no evidence of photosensitivity, hoarseness, small papules along the free margins of eyelids, tongue firmness with short frenulum, and widespread papular lesions of the oral cavity. Histologic and ultrastructural examination revealed the characteristic skin changes: pink, hyaline-like, strongly periodic acid-Schiff-positive material in the dermis, surrounding blood vessels, and sweat glands; thin (30 to 35 nm) collagen fibrils interspersed in abundant amorphous material; blood vessels surrounded by thickened, multilayered basement membranes, in which layers of typical, homogeneous basement membrane material were alternating with electronlucent areas filled by various amounts of thin, cross-striated fibrils, arranged perpendicularly. These findings are of great interest since they show a complex relationship between type IV and type III-like collagen components.

Child↗
PubMed1994

Dubowitz syndrome with keloidal lesions.

The case of a 7-year-old boy affected by Dubowitz syndrome is described. The characteristic features of the syndrome--intrauterine growth retardation, low neonatal weight, short stature, characteristic facies, atopic dermatitis and mental retardation--are discussed with reference to the absence of microcephaly and the presence of spontaneous keloids.

Abnormalities, Multiple↗
PubMed1994

Perianal streptococcal dermatitis: two familial cases.

Two familial cases of perianal streptococcal dermatitis in a 3-year-old girl and her 5-1/2-year-old brother are reported. The clinical features of well-demarcated perianal erythema variably associated with itching, painful defecation with subsequent constipation, rectal bleeding, and proctitis are reviewed, together with suggestions for the best therapy.

Anus Diseases↗
PubMed1994

[Perianal streptococcal dermatitis].

Perianal streptococcal dermatitis is a childhood disorder caused by group A beta-hemolytic streptococci which was first described by Amren in 1966. The incidence of this dermatosis, characterized by well defined erythema in the perianal area, has certainly been underestimated and to the authors' knowledge there have still been no reports of this pathology in Italy. Perianal streptococcal dermatitis merits attention given that affected subjects do not always receive appropriate treatment and on average there is a 6-month lapse between the appearance of symptoms and diagnosis. The authors present two cases which were recently referred to their attention and discuss the methods of contagion, the difficulties of clinical diagnosis, associations with other streptococcal disorders and the treatment of this morbid condition.

Anus Diseases↗
PubMed1993

[Treatment of condyloma acuminatum in children. Comment on 20 cases observed in the past 10 years].

The treatment of condyloma acuminatum in children is still controversial. The ideal treatment should take into account the efficacy of eradicating infection, but also the child's tolerance of treatment and its ease of use. Twenty cases observed by the authors over the course of the past 10 years are described. A treatment protocol is drawn up on the basis of a review of the latest reports on this topic and the availability of new products.

Adolescent↗
PubMed1993

[Condyloma acuminatum in children: etiopathogenesis and a review of the literature].

The authors review the literature on the subject of the questions raised by the finding of condyloma acuminatum in children. These questions concern its epidemiology, the methods of transmission, the existence or otherwise of sexual abuse and predisposing conditions, its relationship with various viral serotypes and with the onset of neoplasia in adulthood. The most appropriate modes of behaviour in relation to individual cases are also discussed and the authors make a few comments regarding prevention.

Adolescent↗
PubMed1992

Infantile condylomata of the oral cavity.

A child had condylomata acuminata localized to the oral cavity. Main points of interest were this exclusive localization, the extremely high number of papillary lesions, not reported in the literature until now, and the excellent response to interferon and local applications of podophyllin. Histologic, ultrastructural, and in situ molecular hybridization techniques were performed to make a correct diagnosis. Transmission of the etiologic agent and therapeutic approaches are discussed.

Cheek↗
PubMed1988

Angiokeratoma corporis diffusum (Fabry's disease) with unusual features in a female patient. Light- and electron-microscopic investigation.

A case of clinically apparent angiokeratoma corporis diffusum (Fabry's disease) in an adult female carrier is presented. The patient had biochemical evidence of the disease, and showed multiple cutaneous lesions, in the absence of other major organ involvement. Ultrastructural examination of tissue fragments obtained by skin biopsies demonstrated the presence of a few typical electron-dense lamellar structures in endothelial cells, but not in smooth muscle cells. Electron microscopy proved to be the only effective way of detecting the intracytoplasmic inclusions, since light-microscopic histochemistry failed to reveal small amounts of the stored glycolipid. The exclusive involvement of endothelial cells suggests that they are more prone to store glycolipid than are all other types of cells usually involved in the disease. The abundance of intermediate filaments in the cytoplasm of endothelial cells is related exclusively to the high blood pressure in angiomatous arteriovenous shunts.

Adult↗
PubMedDate not supplied

Perianal cutaneous larva migrans in a child.

Cutaneous larva migrans (CLM) is a dermatosis characterized by the presence of parasites which migrate into the skin, forming linear or serpiginous lesions. We report a child with cutaneous larva migrans of interest because of the involvement of an unusual site and the patient's age. We confirm the efficacy of therapy consisting of administration of albendazole by mouth.

Anal Canal↗
PubMedDate not supplied

Atrophia maculosa varioliformis cutis: a pediatric case.

Atrophia maculosa varioliformis cutis was described in 1918 by Heidingsfeld as a type of idiopathic noninflammatory macular atrophy typically occurring in young individuals. Only 13 cases have been reported since the first description. Considering that atrophia maculosa varioliformis cutis can be mistaken for a scarring and artifact dermatitis, it is important for physicians to distinguish this condition. We report a new case in a 5-year-old boy.

Atrophy↗
PubMedDate not supplied

Association of piebaldism and neurofibromatosis type 1 in a girl.

We report an 11-year-old girl with both piebaldism and neurofibromatosis type 1 (NF1). The patient had large depigmented patches on her lower limbs and a white forelock since birth. In addition, some café au lait spots were present on her trunk at birth and had increased in number and size during childhood in concomitance with the appearance of axillary and inguinal freckling. Neither neurofibromas nor Lisch nodules were detected and the patient was otherwise healthy. Pedigree analysis revealed inheritance for piebaldism on the paternal side. To our knowledge, the association of piebaldism and NF1 has been described previously in only three patients. Awareness of this rare association is relevant to ensure early diagnosis and adequate follow-up for NF1.

Child↗
PubMedDate not supplied

Eruptive pseudoangiomatosis.

Eruptive pseudoangiomatosis is a rare, benign, spontaneously regressive disease. The term was recently coined to describe a dermatosis characterized by the sudden onset of a few to several bright red angioma-like papules with histopathologic findings distinct from that of true angiomas. We describe a 7-year-old patient with the typical lesions of eruptive pseudoangiomatosis.

Angiomatosis↗
PubMedDate not supplied

Epidermolysis bullosa of the Dowling-Meara type: clinical and ultrastructural findings in five patients.

Clinical and pathologic features of five cases of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), are described. Four patients were children, and two were related (father and daughter). Clinical history revealed blistering at birth in three patients; in all of them the signs and symptoms improved with age. Histopathologic and ultrastructural examinations showed cytolysis of the basal cells and clumping of the tonofilaments within the cytoplasm of keratinocytes. Two distinct types of clumps were observed: round (3 patients) and whisklike (2 patients). Two patients had both types of clumps. The presence of both types in the same patient suggests that subtyping of the disease is still premature.

Child↗
PubMedDate not supplied

[Study of tolerance and efficacy of cosmetic preparations with lenitive action in atopic dermatitis in children].

PURPOSE: In AD (atopic dermatitis), the barrier function of skin is impaired, causing dryness and vulnerability: the first-end point to achieve is restoring skin's function to avoid relapses. Our aim was to assess tolerability and effecacy of two cosmetics with moisturizing and lenitive action in subjects affected by AD. PATIENTS AND METHODS: We used a topical preparation (product A) and a new formulation of it (product B) containing glycyrrhetinic acid, alpha-bisabolol, squalene, oryzanol and hohoba-oil. Product B was then compared with a third one (product C), also based on glycyrrhetinic acid and bisabolol. 30 subjects, aged between 4 months and 16 years, were included in the study (13 girls and 17 boys), suffered from mild-moderate AD, not treated with steroids. Patients were treated twice a day for 21 days, as follows: 12 product A (Decortil lipocrema IDI Farmaceutici); 9 product B (Decortil crema, IDI Farmaceutici); 9 product B on the right and product C (Lichtena AI crema UCB Pharma) on the left. We also did: photografic documentation, SCORAD Index, evaluation of objective (erythema, exudation, excoriation, dryness) and subjective (itching and burning) simptomatology (scoring 0-3) and physiopatological cutaneous tests as TEWL (Trans Epidermal Water Loss), corneometry and pHmetry at beginning and at end of treatment. RESULTS: All groups improved both clinically and instrumentally. Corneometry increased, TEWL lowed and pH turned to normality. CONCLUSIONS: Product A is better for restoring cutaneous physiology, B resulted more efficient in rehydration, in acute phase and as emollient agent, whereas C has more lenitive action.

Adolescent↗