Ottobre 2012 - Volume XXXI - numero 8
Pagine elettroniche
1U.O.C di Pediatria e Neonatologia, Azienda Ospedaliera di Ravenna; 2Scuola di Specializzazione in Pediatria, Università di Ferrara; 3Pediatria di Famiglia, Faenza; 4U.O. di Medicina Molecolare, Azienda Ospedaliera Stella Maris di Pisa; 5UO di Gastroenterologia Pediatrica, Dipartimento di Medicina Clinica e Sperimentale, Università di Pisa, Azienda Ospedaliera Universitaria Pisana
Indirizzo per corrispondenza: federico.marchetti@ausl.ra.it
Key words: Hypertransaminasemia, Glycogen storage disease type IX, Molecular analysis, Case report
The case of an 8-year-old girl with an isolated hypertransaminasemia asymptomatic without cholestasis and with moderate hypercholesterolemia and hepatomegaly with steatosis and glycogen storage in biopsy is described. Once excluded the commonest causes of hypertransaminasemia, because of hepatosteatosis, the differential diagnosis is between a possible Wilson’s disease and glycogen storage disease VI and IX. Genetic research has revealed a glycogen storage disease type IX from mutation of PHKB gene. This mutation is associated with a good prognosis and it may cause hepatic fibrosis only very rarely. Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.
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Pagine elettroniche
1Unità Operativa di Dermatologia, Azienda Ospedaliera di Ravenna
2Dipartimento di Medicina Interna, dell’Invecchiamento e Malattie Nefrologiche, Sezione di Dermatologia, Università di Bologna.
Indirizzo per corrispondenza: paola.sgubbi@gmail.com
Key words: Napkin dermatitis, Irritant dermatitis, Detergents
The case of a 3-month-old boy that was visited because of a brownish, hyperkeratotic and slightly desquamative dermatitis of the inguinal folds, perineum and perianal area is reported. The patient was healthy, asymptomatic and the remaining physical examination was normal. Anamnesis revealed frequent and thorough washings of the diaper area with a synthetic pH acid detergent. A diagnosis of pigmented and hyperkeratotic napkin dermatitis was made. Complete healing was obtained within 5 days using a delicate detergent instead of the previous one and using a moisturizing cream containing omega 3 and omega 6 fatty acids. Pigmented and hyperkeratotic napkin dermatitis is a peculiar, under-reported type of irritant contact dermatitis that falls within differential diagnosis with many other dermatitis of the diaper area.
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