1,720,977 research outputs found
An Unusual Case of Meyerson Phenomenon Around an Infantile Hemangioma
No full textAn Unusual Case of Meyerson Phenomenon Around Infantile Hemangiom
A Case of Bullous Rash Apparently Triggered by Meningococcal and Rotavirus Vaccines in an Infant: Focus on Infantile Bullous Pemphigoid
Full text linkBullous pemphigoid (BP) is an autoimmune bullous disease and is a rare condition in childhood. Acquired tense acral bullae and fixed urticarial annular lesions on the trunk are diagnostic clues of infantile BP. Diagnosis is supported by immunosorbent assay (IgG anti-BP180 and BP230) and direct immunofluorescence (linear deposition of IgG at the dermo-epidermal junction). Topical and/or systemic corticosteroids are the first-line treatment. The prognosis is good with a self-limited clinical course. Differential diagnoses include impetigo and other bullous diseases in children, such as dermatitis herpetiformis, linear IgA bullous dermatosis and erythema multiforme. The etiopathogenesis is still unknown, and the role of antigen stimuli such as infections, drugs and vaccination is still debated
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
No full textAutosomal recessive congenital ichthyosis (ARCI) is a clinically and genetically heterogeneous group of genodermatoses characterized by disorders of cornification. ARCI11 (MIM #602400) includes two syndromes caused by mutations in the ST14 (suppression of tumorigenicity 14) gene: IFAH (autosomal recessive congenital ichthyosis, follicular atrophoderma and hypotrichosis) and ARIH (autosomal recessive ichthyosis and hypotrichosis).
All the reported ARCI11 cases so far belonged to consanguineous Turkish or Arab families].
We describe a novel p.Glu519Gln missense mutation in a patient affected by IFAH from a non consanguineous Rumanian family
Severe hidradenitis suppurativa in a patient affected by Hermansky-Pudlak Syndrome type 9: possible shared pathogenetic aspects
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Plaque-like myofibroblastic tumor, a rare entity of childhood: Possible pitfalls in differential diagnosis
No full textPlaque-like myofibroblastic tumor is a rare and benign pediatric soft tissue tumor. It presents as a slowly growing plaque reaching several centimeters in diameter, made up of multiple nodules. The clinical and histological features of this benign entity are similar to other fibrohistiocytic or myofibroblastic tumors occurring in childhood, so the diagnosis can be difficult. The correlation between clinical data, histopathology, and immunohistochemistry is necessary for the correct diagnosis
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