May El Hachem

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Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is the defective protein of the ichthyosiform condition Netherton syndrome (NS). Strongly expressed in the most differentiated epidermal layers, LEKTI is a serine protease inhibitor synthesized as three different high-molecular-weight precursors, which are rapidly processed into shorter fragments and(More)
Mucocutaneous diseases are more frequent in HIV/AIDS-infected children than in the normal population. We analyze mucocutaneous disorders with atypical presentations in a large population of HIV-infected children, with or without full-blown AIDS, compared to a population of HIV seroreverted children. The majority of these cutaneous disorders have an(More)
BACKGROUND Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis(More)
Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller-Dieker critical region (MDCR). Presence of the MDCR is associated with a mild phenotype, including growth delay (GD), mental retardation (MR), seizures, cafè au lait skin (CALS) spots and minor facial dysmorphisms. Previous studies have been(More)
BACKGROUND Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to(More)
MEDNIK syndrome-acronym for mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia-is caused by AP1S1 gene mutations, encoding σ1A, the small subunit of the adaptor protein 1 complex, which plays a crucial role in clathrin coat assembly and mediates trafficking between trans-Golgi network, endosomes and the plasma membrane. MEDNIK(More)
Congenital presentation of neonatal lupus erythematous is very rare. We describe an infant who had congenital neonatal lupus erythematosus with atrophic lesions on the face and scarring lesions on the trunk. All radiologic, virologic, and hematologic assays were normal. Skin biopsy specimen and immunofluorescence findings led us to suspect neonatal lupus, a(More)
Nail psoriasis occurs in 7% to 40% of children, with a similar pattern of clinical presentation to that of adults. In 0.6% to 2.3% of the patients nail changes appear as the only sign of the disease, preceding other skin and articular involvement. No pediatric clinical trials are available yet, but considering the successful use of tazarotene for nail(More)
PURPOSE OF REVIEW To investigate the functional role of gut microbiota in diet-modulated diseases, evaluating probiotic administration effects by systems biology-driven approaches. Understanding the role of host-gut microbial and gut microbe-microbe interactions in either allergic and healthy children may assist in selecting effective and targeted(More)
Fig. S2. Results of analysis for the PTCH1 mutation identified in the patient. DNA sequencing analysis showing the splice site mutation c.585-1G>A (denoted with arrow) in heterozygosis (A). RT-PCR analysis (B). A cDNA fragment (431 bp) was amplified with the forward primer Ex2cF:5’TAAAAGCAGCGAACCTCGAG-3’ and the reverse Ex6cR:5’-AAGTTTGTCCACCGCAAAGGA-3’(More)