Publications (34)88.43 Total impact
-
Article: Flash-powered transilllumination: old concept, new technology.
Archives of dermatology 05/2012; 148(5):Cover 3. · 4.76 Impact Factor -
Article: Topical tacrolimus and 50% zinc oxide paste for Hailey-Hailey disease: less is more.
Acta Dermato-Venereologica 02/2012; 92(4):437-8. -
Article: Letter: the most dangerous type of toe web 'infection'.
International Wound Journal 02/2012; 9(1):108-9. · 1.46 Impact Factor -
Article: Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
[show abstract] [hide abstract]
ABSTRACT: Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, who presented a clinical triad suggestive of NS with variations in inter- and intra-familial disease expression. We identified a new and frequent synonymous mutation c.891C>T (p.Cys297Cys) in exon 11 of the 12 NS patients. This mutation disrupts an exonic splicing enhancer sequence and causes out-of-frame skipping of exon 11. Haplotype analysis indicates that this mutation is a founder mutation in Greece. Two other new deep intronic mutations, c.283-12T>A in intron 4 and c.1820+53G>A in intron 19, induced partial intronic sequence retention. A new nonsense c.2557C>T (p.Arg853X) mutation was also identified. All mutations led to a premature termination codon resulting in no detectable LEKTI on skin sections. Two patients with deep intronic mutations showed residual LEKTI fragments in cultured keratinocytes. These fragments retained some functional activity, and could therefore, together with other determinants, contribute to modulate the disease phenotype. This new founder mutation, the most frequent mutation described in European populations so far, and these unusual intronic mutations, widen the clinical and molecular spectrum of NS and offer new diagnostic perspectives for NS patients.Journal of Investigative Dermatology 11/2011; 132(3 Pt 1):575-82. · 6.31 Impact Factor -
Article: Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
[show abstract] [hide abstract]
ABSTRACT: Heterozygous mutations in TP63 cause a wide spectrum of autosomal dominant developmental disorders variably affecting skin, limbs, and face. TP63 encodes p63, a protein expressed in two main isoforms (Tap63 and ΔNp63) with critical roles in both cell differentiation and development. Some analyses suggest a relationship of the mutation site to the observed clinical picture, although this link is inconsistent. This suggests an appreciable phenotypic continuity within the TP63-related disorders. We report a 3-month-old boy ascertained for congenital scalp erosion and mild features of ectodermal dysplasia. His mother showed full-blown characteristics of Rapp-Hodgkin syndrome plus intense abdominal and popliteal freckling. Molecular investigation identified the novel TP63 mutation c.1697delG. We used a luciferase reporter assay to compare the effects on the p63 transactivation (TA) activity of c.1697delG with that of the p.Arg280Cys and p.Gln634X mutations, associated with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and isolated split hand/foot malformation, respectively. These results demonstrated complex behavior of c.1697delG in the TA of genes involved in epidermal differentiation and development and shed further light in the physiopathology of TP63-related disorders.American Journal of Medical Genetics Part A 11/2011; 155A(12):3104-9. · 2.39 Impact Factor -
Article: Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.
[show abstract] [hide abstract]
ABSTRACT: Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.American Journal of Medical Genetics Part A 08/2010; 152A(8):2043-7. · 2.39 Impact Factor -
Article: Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
[show abstract] [hide abstract]
ABSTRACT: KID syndrome (MIM 148210) is an ectodermal dysplasia characterized by the occurrence of localized erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. KID syndrome is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26). Cx26 is a component of gap junction channels in the epidermis and in the stria vascularis of the cochlea. These channels play a role in the coordinated exchange of molecules and ions occurring in a wide spectrum of cellular activities. In this paper we describe two patients with Cx26 mutations cause cell death by the alteration of protein trafficking, membrane localization and probably interfering with intracellular ion concentrations. We discuss the pathogenesis of both the hearing and skin phenotypes.Biochemical and Biophysical Research Communications 03/2010; 395(1):25-30. · 2.48 Impact Factor -
Article: Systematized organoid epidermal nevus with eccrine differentiation, multiple facial and oral congenital scars, gingival synechiae, and blepharophimosis: a novel epidermal nevus syndrome.
[show abstract] [hide abstract]
ABSTRACT: Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.American Journal of Medical Genetics Part A 01/2010; 152A(1):25-31. · 2.39 Impact Factor -
Article: Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.
[show abstract] [hide abstract]
ABSTRACT: Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bone involvement, but this association has never been sufficiently emphasized. Aniridia is a developmental disorder of the eye due to heterozygous mutations in PAX6. DD and aniridia are Mendelian traits mapping on independent loci and have never been reported in association. Here, we describe a 14-year-old girl showing the unique combination of DD, multiple bone cysts, and bilateral aniridia. Molecular investigations demonstrated that such a complex phenotype is due to double de novo heterozygous mutations in ATP2A2 and PAX6. Review of the literature indicates that, in DD, bone cysts are true developmental abnormalities of the skeleton. This finding suggests a role for ATP2A2 in bone biology. More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation.American Journal of Medical Genetics Part A 09/2009; 149A(8):1768-72. · 2.39 Impact Factor -
Article: Trigeminal neurotrophic ulceration in Wallenberg's syndrome.
International journal of dermatology 05/2009; 48(4):443-5. · 1.18 Impact Factor -
Article: Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.
[show abstract] [hide abstract]
ABSTRACT: Bazex-Dupré-Christol syndrome is a rare X-linked genodermatosis characterized by early-onset nonmelanoma skin cancers, atrophoderma follicularis, hypotrichosis, hypohidrosis, and multiple milia. Its molecular basis remains unknown and nosologic classification is debated. We report a 5-year-old child presenting sparse hair, reduced sweating, ice-pick skin depressions of the dorsum of hands, facial and limb milia, perianal skin hyperpigmentation, and hyperpigmented papules of the axillae and neck. His mother showed similar features but lacked hair involvement. Histologic examination of a skin papule obtained from the index case revealed features consistent with trichoepithelioma. Our findings indicate that trichoepitheliomas are an early sign of Bazex-Dupré-Christol syndrome and may guide the diagnosis even before the development of basal cell carcinomas. The high frequency of hypotrichosis, hypohidrosis and dry skin in Bazex-Dupré-Christol syndrome indicates that it may be better classified as an ectodermal dysplasia. Comparison with other conditions combining features of ectodermal dysplasia and proneness to skin tumors suggests the involvement of a common pathogenic pathway implicated in both skin development and cancer.European journal of medical genetics 01/2009; 52(4):250-5. · 1.57 Impact Factor -
Article: A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome.
[show abstract] [hide abstract]
ABSTRACT: Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly characterized by congenital hypotrichosis, peculiar facial gestalt, short metacarpals, interphalangeal swelling, and growth and mental retardation. Although skin manifestations represent a prominent NBS feature, no particular attention has been paid to this condition in the dermatologic literature. Here, we report on the sixth patient with NBS, who requested dermatologic evaluation because of congenital sparse scalp hair. An integrated approach that involved the dermatologist, clinical geneticist, and radiologist was crucial for diagnostic definition. Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis.Journal of the American Academy of Dermatology 12/2008; 59(5 Suppl):S92-8. · 3.99 Impact Factor -
Article: Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.
[show abstract] [hide abstract]
ABSTRACT: Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. Although an excess of affected males and linkage studies strongly suggest an X-linked pattern of inheritance, an apparently rarer autosomal dominant form with prominent follicular inflammation has also been postulated. We report on a three-generation family with five affected individuals and male-to-male transmission. In addition to widespread keratosis pilaris, cicatricial alopecia and eye involvement, our patients show diffuse facial erythema, recurrent folliculitis, enamel hypoplasia, and thickened nails. A literature review of the last 50 years identified 43 additional KFSD cases. X-linked inheritance is demonstrated in two pedigrees by linkage studies and suspected in five. An autosomal dominant pattern is confirmed in three families, including ours, by male-to-male transmission and considered likely in four. Marked facial erythema, extensive folliculitis, onychodystrophy and multiple caries are frequently reported in the autosomal dominant variant, while palmo-plantar keratoderma and early onset seem more typical of the X-linked form. Moreover, three sporadic male patients showing additional multisystemic abnormalities might be explained by an X-linked contiguous-gene syndrome.European journal of medical genetics 11/2008; 52(1):53-8. · 1.57 Impact Factor -
Article: Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
Journal of Dermatological Science 08/2008; 51(1):58-61. · 3.72 Impact Factor -
Article: Autochthonous creeping eruption in an Italian child.
American Journal of Clinical Dermatology 02/2008; 9(3):205-6. · 1.71 Impact Factor -
Article: Dermatitis Artefacta in a Child
[show abstract] [hide abstract]
ABSTRACT: The high visibility of dermatologic diseases and their easy accessibility make the skin a primary and direct target for dysfunctional behaviors. Self-harm tendencies can frequently be expressed through dermatologic lesions, and dermatitis artefacta falls within this clinical frame. The occurrence of this cutaneous manifestation in children is very rare, with a peak of greater frequency in adolescence. We describe the characteristics of a multidisciplinary intervention—dermatologic and psychologic. Our pediatric patient displays a dermatologic picture that has no etiologic confirmation. The source of this disorder must therefore be found in socio-relational difficulties within the family and school environments, which lead the patient to self-harm behaviors that have a high communication value.Pediatric Dermatology 08/2007; 24(5):E51 - E56. · 1.07 Impact Factor -
Article: Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.
[show abstract] [hide abstract]
ABSTRACT: Sjögren-Larsson syndrome (SLS; MIM#270200) is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase (FALDH), a microsomal enzyme that catalyzes the oxidation of medium- and long- chain aliphatic aldehydes fatty acids. We studied two unrelated Italian SLS patients with ichthyosis, developmental delay, spastic diplegia and brain white matter disease. One patient was homozygous for a novel ALDH3A2 insertion mutation (c.767insA) in exon 5. The other SLS patient was a compound heterozygote for two previously reported mutations: a slice site mutation (c.1094C > T; S365L) in exon 7. Analysis of fibroblast RNA by RT-PCR indicated that the spice-site mutation caused skipping of exons 2 and 3. The c.1094C > T mutation, previously associated with two ALDH3A2 haplotypes, was found on a third distinct haplotype in our patient, which indicates that arose independently in this kindred. These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease.Journal of Human Genetics 02/2007; 52(10):865-70. · 2.57 Impact Factor -
Article: Multiple cutaneous granular cell tumors, joint hypermobility and mild facial dysmorphism in a child.
[show abstract] [hide abstract]
ABSTRACT: The association of multiple cutaneous granular tumors with systemic defects is extremely rare. To date, 14 cases have been described. A 14-year-old boy presented multiple nodular lesions on his arms and legs; facial dysmorphism and joint hypermobility were also present. Histopathologic examination of two nodules showed granular cell tumors. We review the literature regarding multiple granular cell cutaneous tumors in children with associated somatic defects and genetic syndromes. The combination of multiple cutaneous granular tumors with alterations in other organs is not only fortuitous, justifying the proposal of a distinct syndrome, termed "Bakos's syndrome" after the author who first described this association. The relation with neurofibromatosis type 1 is discussed, and an association is suggested with the range of variants of this syndrome.International Journal of Dermatology 08/2006; 45(7):847-50. · 1.14 Impact Factor -
Article: Co-localization of susceptibility loci for psoriasis (PSORS4) and atopic dermatitis (ATOD2) on human chromosome 1q21.
[show abstract] [hide abstract]
ABSTRACT: Psoriasis (PS) is a chronic inflammatory skin disorder characterized by keratinocyte hyperproliferation and altered differentiation. Atopic dermatitis (ATOD) is a chronic inflammatory, pruritic and eczematous disease frequently associated with respiratory atopy. These diseases are associated with distinct immunologic abnormalities and represent typical examples of complex diseases triggered by both genetic and environmental factors, as demonstrated by independent twin studies. Genome wide linkage studies have mapped susceptibility loci on several chromosomes (PSORS1-9; ATOD1-5). Four of them overlap on chromosomes 1q21, 3q21, 17q25 and 20p although ATOD is quite distinct from PS and these two diseases rarely occur together in the same patient. An association fine-mapping study has been performed to refine PSORS4 and ATOD2 susceptibility loci on chromosome 1q21 analyzing two independently collected cohorts of 128 PS and 120 ATOD trios. Genotype and haplotype analysis of PSORS4 and ATOD2 led us to detect significant p value for haplotypes defined by MIDDLE and ENDAL16 markers in both PS (p = 0.0000036) and ATOD (p = 0.0276), suggesting a strict co-localization within an interval of 42 kb. This genomic interval contains a single gene, LOR, encoding for loricrin. Polymorphic markers mapping in regulatory and coding regions did not show evidence of association in neither of the two diseases. However, expression profiles of LOR in skin biopsies have shown reduced levels in PS and increased levels in ATOD, suggesting the existence of a specific misregulation in LOR mRNA production.Human Heredity 02/2006; 61(4):229-36. · 1.79 Impact Factor -
Article: PSORS2 markers are not associated with psoriatic arthritis in the Italian population.
[show abstract] [hide abstract]
ABSTRACT: Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy characterized by the association of arthritis and psoriasis (Ps). The precise etiology of PsA is unknown, but epidemiological studies supported the existence of a genetic component for the disease. Here we report an association study on a large PsA Italian cohort for DNA variants recently reported as associated alleles at PSORS2 (17q25) in Ps cohorts from the US. We focused on discovering a possible involvement of PSORS2 associated SNPs in pathogenesis of PsA. We selected two SNPs (rs7420, rs734232) within the proximal peak and two SNPs (rs869190 and rs1561946) within distal peak of PSORS2. Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA.Human Heredity 02/2006; 61(2):120-2. · 1.79 Impact Factor
Top co-authors
Top Journals
Institutions
-
2008
-
Sapienza University of Rome
- Department of Experimental Medicine
Roma, Latium, Italy
-
-
1998–2003
-
Istituto Dermopatico dell'Immacolata
Roma, Latium, Italy
-
