Acute hemorrhagic edema of infancy (AHEI) is an unusual form of leukocytoclastic vasculitis with dramatic distinguishing skin lesions that occurs in infants ages 4 to 24 months old. The disease presents with skin eruptions that usually start with large (1-5 cm), symmetrically distributed, hemorrhagic lesions in a characteristic cockade pattern. The lesions are typically located on the lower extremities, face (in particular the ears, cheeks, and eyelids), and gluteal area. Fever may accompany skin eruptions. Clinical presentation at onset requires clinical and laboratory examination to distinguish it from more serious diseases and other vasculitis. The main differential diagnosis of AHEI is Henoch-Schönlein purpura. AHEI is generally a self-limiting disease, so a conservative approach should be considered. Topical or systemic corticosteroid therapy has been reported to be beneficial, as well as antihistamines and dapsone, although AHEI usually resolves completely with or without treatment. We report two cases of AHEI and an update of the literature.

Background Neonatal Lupus Erythematosus (NLE) is an uncommon autoimmune disease characterized by cutaneous, hepatic, hematological, neurological and cardiac involvement.Case presentationHere we report four cases of cutaneous NLE which were referred to our department in the last 10 years and update literature. The newborns presented with different skin, clinical and laboratory features. This underlines the phenotypic variability of NLE. We investigated the passage of maternal antinuclear antibodies (ANA) and extractable nuclear antigen antibodies (ENA) - particularly anti-Ro/SSA, anti-La/SSB and anti-U1 ribonucleoprotein RNP - through the placenta. Despite the positive family background, cutaneous NLE and serological data improved in infants within 4 months without treatment.ConclusionThe evolution of cutaneous NLE may be the spontaneous regression of lesions within six months without progression to Systemic Lupus Erytehmatosus.

BackgroundBullous pemphigoid (BP) is a blistering skin disorder infrequent in infancy and rarely reported in medical literature.Case PresentationHere we describe three cases of BP which were referred to our department in the last 15 years. Two of them developed an eruption of bullous lesions just a few days after vaccination for diphtheria, tetanus, pertussis, poliomyelitis, hepatitis B and Haemophilus influenzae B. The third patient developed the same blistering lesions shortly after herpetic stomatitis. In all three cases, clinical diagnosis was confirmed by histological examination which showed subepidermal bullae with a dermal inflammatory infiltrate, and direct immunofluorescence of perilesional skin showed linear IgG and C3 deposits along the basement membrane zone. Immunoblot assay was positive for BP antigen 180. Treatment with oral prednisone was instituted and the lesions resolved in two out of three patients; the third one was treated with an immunosuppressive agent (tacrolimus) and corticosteroid and subsequently with intravenous immunoglobulin and plasmapheresis, due to an underlying complex autoimmune disease.ConclusionAlthough the mechanism of induction of BP is still unclear, the close relationship between trigger events (immunization or viral infection) and onset of the disease arises a possible association.

a della salute e della Scienza, Regina Margherita, Children's Hospital, Turin (TO), Italy c ; Laboratorio di Microbiologia e virologiaeAOU Maggiore della Carit a di Novara (NO), Italy d ; Pediatric and Pediatric Emergency Unit, Children's Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria (AL), Italy g ; and Department of Pediatrics, Ospedale Castelli Verbania (VB). h Funding sources: None.

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Pseudoverrucous papules and nodules can be observed on skin surrounding urostomies and colostomies. These lesions appear to be uncommon, and sometimes can be misdiagnosed, even leading to surgical removal. We report the case of a 12-year-old boy whose lesions appeared in crops in an area subjected to urine leakage and spontaneously regressed in time. In this patient, anogenital warts had to be ruled out, but many skin diseases must be considered in the differential diagnosis of these misunderstood lesions. We stress the importance of a skin examination by a trained professional aware of these problems to avoid unnecessary investigations and treatments.

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Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by heterozygous germline activating pathogenic variants in mammalian target of rapamycin (MTOR) on chromosome 1p36. A few patients with disseminated mosaicism have been described so far and they seem to display a different phenotype when compared to germline cases. Here we report the sixth case with a disseminated mosaic MTOR pathogenic variant, a 7‐year‐old boy with hemimegalencephaly, epilepsy, developmental delay, hypomelanosis of Ito, and lateralized overgrowth. Genetic testing revealed a pathogenic variant (c.4448G > A, p.Cys1483Tyr) in MTOR with a frequency of 32% in the DNA extracted from a skin sample, 3% in saliva and 0.46% in blood. The clinical features observed in our patient further corroborate the existence of differences in phenotypic presentation of germline and mosaic SKS cases. Moreover, lateralized overgrowth, a finding never described so far in SKS, further expands the phenotypic spectrum of SKS and allows the inclusion of MTOR pathogenic variants among the several causes of asymmetric body overgrowth.