Affiliation: Istituto Dermopatico dell'Immacolata
- Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stressMauro Paradisi
VII Divisione, Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
BMC Cell Biol 6:27. 2005..The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT), within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein...
- [A Pediatric case of lupoid leishmaniasis diagnosed by PCR]M Paradisi
VII Divisione Dermatologia Pediatrica, IDI IRCCS, Roma
Minerva Pediatr 53:33-7. 2001..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"...
- Atrophia maculosa varioliformis cutis: a pediatric caseM Paradisi
VII Division of Pediatric Dermatology, Istituto Dermopatico dell Immacolata, IRCCS, Rome, Italy
Pediatr Dermatol 18:478-80. 2001..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...
- [PTPN11 gene mutation in LEOPARD syndrome]M Paradisi
Sezione di Dermatologia Pediatrica, Istituto Dermopatico dell Immacolata IDI, Rome
Minerva Pediatr 57:189-93. 2005..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...
- Annular lichenoid dermatitis of youthGiorgio Annessi
Servizio di Istopatologia, Istituto Dermopatico dell Immacolata, IRCCS, Via Monti di Creta 104, 00167 Rome, Italy
J Am Acad Dermatol 49:1029-36. 2003..Lichenoid dermatoses are composed of a wide spectrum of disorders with a common histopathologic interface pattern but diverse causes and pathophysiology...
- Dermatitis artefacta in a childEnzo D Finore
Clinical Psychology and Psychosomatic Psychotherapy Service, Istituto Dermopatico dell Immacolata IRCCS, Rome, Italy
Pediatr Dermatol 24:E51-6. 2007..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...
- Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosaRita Gardella
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Italy
J Invest Dermatol 119:1456-62. 2002..Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations...
- Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaKarl Heinz Grzeschik
Department of Human Genetics, University of Marburg, Bahnhofstr 7, 35033 Marburg, Germany
Nat Genet 39:833-5. 2007..The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN...
- Reproducibility of severity rating for atopic dermatitisEva Mazzotti
Acta Derm Venereol 88:60-1. 2008