Juvenile Xanthogranuloma Presented with Buphthalmos and Corneal Clouding in Neonatal Period: A Case Report.

Aim: To report an ocular juvenile xanthogranuloma (JXG) case presented with buphthalmos, corneal cloudiness, and normal intraocular pressure (IOP) in the neonatal period and treated with Ahmed glaucoma valve (AGV) implantation.

Background: JXG is a rare disorder predominantly seen in infants, but the neonatal presentation is extraordinary. Although spontaneous hyphema is a common presenting sign in JXG, buphthalmos and corneal opacity in the neonatal period were reported only in one case, which had high IOP values at presentation.

Acute generalized exanthematous pustulosis due to ceftriaxone: Report of a pediatric case with recurrence after positive patch test.

Acute generalized exanthematous pustulosis (AGEP) is seen uncommonly in children and sometimes shows atypical clinical features in this population. Patch testing can be used effectively in children for the confirmation of the culprit drug in cases of multiple drug use. Here, we report a rare, pediatric case of ceftriaxone-induced AGEP confirmed by patch testing with subsequent recurrence of the skin eruption.

Autoimmune Bullous Disease in Childhood.

Background: Autoimmune bullous disorders (AIBDs) are a heterogeneous group of diseases which are rarely seen in children. Studies concerning the immunobullous diseases in pediatric patients are scarce.

Aims And Objectives: In this study, we aimed to investigate the clinical features and treatment outcomes of AIBDs in children.

House Dust Mites Confer a Distinct Immunological Feature among Dermatitis.

Atopic dermatitis (AD) is a heterogeneous disease with regard to clinical phenotype and natural history. We investigated T cell subtypes and cytokine responses in peripheral blood and skin lesions of AD patients with various sensitivities. Immunological studies were performed in 27 subjects: 9 house dust mite (HDM)-sensitized; 6 subjects with sensitizations other than HDM; 7 non-allergic AD patients and 5 healthy controls.

Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutation.

Papillon-Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C.

Interstitial Mycosis Fungoides With Lichen Sclerosus-Like Clinical and Histopathological Features.

Mycosis fungoides (MF) simulates a variety of dermatologic disorders histopathologically and clinically, well deserving the designation of a great mimicker. Interstitial MF is a rare, but well-recognized histopathological variant resembling the interstitial form of granuloma annulare or the inflammatory phase of morphea. From a clinical standpoint, MF can have a wide array of manifestations, including an anecdotal presentation with lesions clinically suggestive of lichen sclerosus (LS).

Intravascular/Intralymphatic Histiocytosis: A Report of 3 Cases.

Intravascular/intralymphatic histiocytosis (IV/ILH) is a rare, reactive cutaneous condition, with uncertain pathogenesis. It may be associated with various inflammatory and neoplastic diseases. Although the clinical presentation is various, the biopsies reveal dilated vessels, mostly lymphatics, containing aggregates of histiocytes within their lumina.

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.

Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4-year-old Turkish boy with a cardio-cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.

Background: Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused by C16orf57 mutations. To date 17 mutations have been identified in 31 PN patients.

Results: We characterize six PN patients expanding the clinical phenotype of the syndrome and the mutational repertoire of the gene.

KID syndrome patient with toe walking: a case report.

Objective: To report on a 10-year-old boy with KID syndrome who presented with a new onset unilateral toe walking.

Method: This patient's equinus contracture was evaluated clinically. The patient underwent to surgical lengthening of Achilles tendon.

Phacomatosis pigmentovascularis type IIIb.

Phacomatosis pigmentovascularis (PPV) is a group of syndromes comprising coexistent vascular and pigmentary nevi, which is first classified into five subtypes and then further categorized according to the absence or presence of associated systemic findings as type (a) and (b), respectively. This case report is of an 11-year-old Turkish girl with extensive vascular nevus and nevus spilus. Because of coexistent scoliosis, the patient represents an example of PPV type IIIb.

Frontal linear scieroderma (en Coup de Sabre): a case report.

En coup de sabre is a type of linear scleroderma which presents on the frontal or frontoparietal scalp. En coup de sabre in children is associated with asymmetric growth and progressive facial disfigurement. The purpose of this report was to present the case of a 4-year-old girl with a 2-year history of en coup de sabre.

Oral-clinical findings and management of epidermolysis bullosa.

Epidermolysis bullosa (EB) is a diverse group of disorders that have as a common feature blister formation with tissue occuring at variable depths in the skin and/or mucosa. This article reports two cases of EB and review oral-clinical findings of the EB types and approaches for managing the oral-clinical manifestations. While systemic treatment remains primarily palliative, it is possible to prevent destruction and subsequent loss of the dentition through appropriate interventions and dental therapy.