PubMed Health⌕ Search

Biomedical subjects

C Angelo

Publications and source records attributed to C Angelo.

At least 19 recordsLinked to original sources
PubMed2005

[PTPN11 gene mutation in LEOPARD syndrome].

The multiple lentigines/LEOPARD syndrome (ML/LS) is a rare and complex genetic syndrome. It is an autosomal dominant disorder with a variable expressivity. The syndrome is mainly characterised by growth retardation, multiple lentigines, and congenital heart diseases with electrocardiographic anomalies, dysmorphia of the face and deafness. The incidence of this pathology is still unknown and a familial inheritance is present in 70% of cases. Some of the ML/LS clinical features are the same as those of the Noonan syndrome (NS), such as congenital cardiac abnormalities, dysmorphia and growth retardation. NS and ML/LS are caused by allele mutations of the PTPN11 gene. We report the case of a 3-year-old girl, who was observed for the presence of widespread lentigines, a 1/6-protosystolic murmur at the mesocardium and growth retardation. The diagnosis of ML/LS was made and thus a molecular analysis of the PTPN11 gene was carried out, directly sequencing the codifying region. The molecular analysis revealed a missense mutation (A836G) in hexone 7 (TYR279CYS) of the PTPNII gene. This mutation is has been observed, at present, in a few cases of ML/LS and Noonan syndrome.

Child, Preschool↗
PubMed2004

[Successful treatment of Norwegian scabies with ivermectin in a patient with recessive dystrophic epidermolysis bullosa].

A 14 year-old female born from consanguineous healthy parents was admitted to our institute for the presence of a generalized bullous eruption started at birth. The bullae were asymmetrically distributed all over the cutaneous surface and, over time, evolved into erosions that resolved with scarring areas. On the basis of the clinical picture and the ultrastructural and antigenic studies, a diagnosis of recessive dystrophic epidermolysis bullosa was made. In the following months, the patient began to complain a severe pruritus and the bullae and erosions were accompanied with diffuse erythematous patches and plaques covered by thick scale-crusts situated mostly on the arms. Microscopic examination of the scales revealed the presence of many mites and ova. Since the conventional topical therapies for scabies were uneffective, the patient was treated with a single dose (200 mcg/hg) of ivermectin. Although there was an initial improvement, scabies recurred within 2 months from discontinuation of the therapy. Finally, a further single administration of ivermectin at the same dosage led to the complete and permanent resolution of scabies. The association of recessive dystrophic epidermolysis bullosa and norwegian scabies has been already reported in literature. The case presented suggests that ivermectin represents an effective drug for severe forms of scabies occurring in patients affected by other dermatoses that prevent the use of topical treatments.

Adolescent↗
PubMed2003

Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene.

Atrichia with papular lesions (APL) is a rare autosomal recessive disorder resulting in complete and irreversible hair loss shortly after birth. Affected individuals also develop papular lesions of keratin-filled follicular cysts over extensive areas of the body. Mutations in the hairless gene, a putative single zinc-finger transcription factor protein, have been implicated in the pathogenesis of APL. In this report, we describe a novel missense mutation, E583V, in the hairless gene in an Italian family affected with APL. The mutation resides between the LXXLL motif found in TRIPs (thyroid hormone receptor interacting proteins) in exon 5 and the six-cysteine zinc-finger motif in exon 6. The amino acid sequence neighbouring the LXXLL motif and zinc-finger domain is highly conserved in human, monkey, rat, and mouse hairless proteins. Our finding extends the body of evidence that supports the importance of the zinc-finger and LXXLL domains in the function of the hairless protein. Moreover, we continue to find small APL families without consanguinity from around the world.

Alopecia↗
PubMed2003

[Erythema nodosum induced by kerion celsi in a child with hypomelanosis of Ito].

A 3-year-old boy presented with an 8 week history of inflammatory nodular lesions on the scalp. Shortly afterwards painful subcutaneous nodules developed on the lower legs. Epidermophyton floccosum was isolated from the scalp lesions and a diagnosis of erythema nodosum induced by kerion celsi of the scalp was made. The patient was started on oral therapy with 250 mg/day griseolfuvin, associated with topical eosine and myconazol. Erythema nodosum represents a reaction pattern to a wide variety of inflammatory stimuli. The interest of this case lies in the unusual association of kerion celsi and erythema nodosum and in the identification of Epidermophyton floccosum in the lesions of the scalp.

Child, Preschool↗
PubMed2001

Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition.

Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the three genes (LAMA3, LAMB3, LAMC2) encoding the laminin-5 chains cause junctional epidermolysis bullosa, a clinically and genetically heterogeneous blistering skin disease. Here, we describe a non-Herlitz junctional epidermolysis bullosa patient, compound heterozygote for two novel mutations affecting the LAMC2 gene. The mutation in the paternal allele is a de novo splice site mutation (522-1G-->A) that results in in-frame skipping of exon 4 and synthesis of a mutated gamma2 polypeptide (gamma2Delta4) carrying a 33 amino acid deletion within the N-terminal domain V. The maternal mutation is a one base pair insertion (3511insA) in the 3' terminal exon of LAMC2 resulting in a frameshift and a premature termination codon. Mutation 3511insA is predicted to lead to the synthesis of a gamma2 polypeptide (gamma2t) disrupted in its alpha-helical C-terminal structure and truncated of the last 25 amino acids. Keratinocytes isolated from the patient's skin showed a markedly decreased level of gamma2 chain mRNA and secreted scant amounts of laminin-5, which undergoes physiologic proteolytic processing. To investigate the biologic function of the laminin-5 molecules synthesized by the patient, mutant gamma2 cDNAs were transiently expressed in gamma2-null keratinocytes. Transfection of the gamma2Delta4 cDNA resulted in restoration of laminin-5 deposition onto the culture substrate, which demonstrates that the gamma2 polypeptides carrying a deletion in domain V, upstream of the gamma2 proteolytic cleavage site, are assembled into native laminin-5 that is secreted and extracellularly processed. In contrast, transfection of a mutant cDNA expressing the gamma2t chain failed to restore laminin-5 immunoreactivity, which indicates that integrity of the gamma2 C-terminal amino acid sequences is required for laminin-5 assembly. These results correlate for the first time a functional alteration in a laminin-5 domain with a mild junctional epidermolysis bullosa phenotype.

Amino Acid Sequence↗
PubMed2001

[Tinea faciei in a newborn].

Dermatophytosis in newborns and infants has been regarded as very unusual; a case recently observed of a 2-month-old child affected by tinea faciei is described. Twenty days before, localized erythematous infiltrated patches at the upper left eyelid and eyebrows with papules and pustules, were observed. Rarefaction of the eyebrows and partially loss of the eyelashes associated with scattered areas of erythematopapulous lesions on the face, were seen. Mycological examination was positive and trichophyton rubrum colonies grew. Tinea capitis is more common than tinea faciei in newborn and infants. Differential diagnosis includes: seborrheic dermatitis, atopic dermatitis with associated impetigo, candidiasis, bacterial folliculitis. The interhuman transmission by relatives is the most probable modality of trans-mission, as previously reported in the literature. A widespread of the dermatoses was due to previous application of topical corticosteroids. The lesions resolved completely after treatment with miconazole cream, applied twice daily for three weeks.

Age Factors↗
PubMed2001

[A Pediatric case of lupoid leishmaniasis diagnosed by PCR].

The purpose of this paper is to describe the clinical features of lupoid leishmaniasis in a child and to underline the use of PRC as a necessary and reliable tool in controversial diagnosis. Lupoid leishmaniasis, also known as chronic or relapsing leishmaniasis, is mainly widespread in the Middle East, where it represents up to 5% of all cutaneous Leishmaniasis. It strongly resembles Lupus Vulgaris, both clinically and histologically, and is therefore not usually diagnosed immediately but after a certain period of time. The amastigotic forms are rare or absent. The cutaneous nodules or plaques can slowly enlarge over the years. The case of an eleven-year-old albanian child living in Durazzo (Albania), suffering since three years with a plaque formed by apple-jelly nodules and scars on his right cheek, is presented. Using PCR, the presence of Leishmania infantum DNA led to a diagnosis of lupoid leishmaniasis. The therapeutic strategy of a combination of oral itraconazole and infiltration of metilglucamina antimoniate has been carried out, with good result, as checked through "telemedicine".

Administration, Oral↗
PubMed2001

Becker's nevus syndrome.

Becker's nevus (BN) is a unilateral hyperpigmented, often hairy, cutaneous hamartoma, with geographic borders. It is usually localized on the shoulder, anterior chest, scapula, or upper arm, but there have been reports of BN in other areas (eg, lower extremities, face). In most cases, the lesion appears in late childhood or adolescence, and both congenital and familial cases have been described.

Adolescent↗
PubMed2000

Neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is a rare disease characterized by the transplacental passage from the mother to the fetus of autoantibodies, in particular anti-Ro(SS-A), anti-La(SS-B), or both. The majority of infants with NLE exhibit isolated congenital heart block, cutaneous lesions analogous to those of adult subacute cutaneous lupus erythematosus, or both. We report a case of NLE in a 3-month-old male infant, born to a clinically asymptomatic mother, presenting small, annular, erythematous plaques with sharp, hyperkeratotic borders and central clearing localized at the eyebrow region. Both the infant and the mother were positive for anti-Ro(SS-A).

Adult↗
PubMed1998

Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa.

Laminin-5 is the major adhesion ligand of epithelial cells. Mutations in the genes encoding laminin-5 cause junctional epidermolysis bullosa (JEB), a clinically and genetically heterogeneous group of recessively inherited blistering disease of skin and mucous membranes. In this report, we describe a patient with a non-lethal variant of JEB who is a compound heterozygous for mutations affecting the LAMB3 gene. The paternally inherited mutation is a deletion of a single base (T) leading to a frameshift and premature termination codon. It results in mRNA decay. The maternally inherited mutation is a G-->A transition at the last base of exon 7 (628G-->A) which converts a codon for glutamic acid in a codon for lysine (E210K). The mutation 628G-->A alters the correct splicing of LAMB3 pre-mRNA giving rise to two aberrant mRNA, in addition to the RNA transcript carrying the G-->A substitution. This result is compatible with the reduced expression of mutated laminin 5 molecules with altered biological activity, and the mild JEB phenotype observed in the patient.

Base Sequence↗
PubMed1997

Neutrophilic figurate erythema of infancy.

We describe a transient figurate erythema in an 11-month-old female infant with a 2-month history of arcuate and annular erythematous lesions localized on the face, trunk, and limbs. Constitutional symptoms were absent. Previous medical history was unremarkable. Full blood examination, erythrocyte sedimentation rate, antistreptolysin-O titer, anti-Ro, and anti-La antibodies were within normal limits or negative. Histologic examination revealed a superficial and deep perivascular and interstitial dermatitis constituted mostly of neutrophils and abundant nuclear dust. The lesions resolved spontaneously within a few months without scarring or atrophy. Recurrence has not occurred. This case suggests that figurate erythemas in infants rarely may disclose a neutrophilic histologic pattern, which must be differentiated from that of other neutrophilic dermatoses.

Antibodies, Antinuclear↗
PubMed1997

[Ehlers-Danlos syndrome type I. Ultrastructural study].

Ehlers-Danlos syndrome comprises a very heterogeneous group of collagen diseases characterised in clinical terms by fragility and cutaneous hyperextensability, ligamentous hyperlaxity, ecchymosis, scarring, visceral and neurological manifestations. Having been described in detail by Ehlers in 1899 and Danlos in 1908, it was subsequently classified into various clinical types. At present at least 11 forms are recognised on the basis of their clinical characteristics, methods of transmission and biochemical defect; the first four types of the syndrome account for approximately 95% of cases. Almost all forms are transmitted with a dominant autosomic character. Specific genetic mutations have been ascertained whereas the biochemical defect has been identified in numerous types. Ehlers-Danlos type 1 syndrome is the most frequent and most severe form. The biochemical anomaly underlying the altered deposition of collagen fibre is still unknown and this is responsible for the "storiform" appearance of collagen fibre on ultrastructural examination. The authors have described a typical case of "Ehlers-Danlos type 1 syndrome" in which the diagnosis was confirmed by comparing clinical data and the results of ultrastructural tests which revealed the characteristic "pattern" of collagen fibres.

Adolescent↗
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↗