Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds.

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.

Background: Palmoplantar keratoderma (PPK) refers to a large group of disorders characterized by extensive genetic and phenotypic heterogeneity. PPK diagnosis therefore increasingly relies upon genetic analysis.

Aim: To delineate the genetic defect underlying a case of diffuse erythematous PPK associated with peeling of the skin.

SAM syndrome is characterized by extensive phenotypic heterogeneity.

Severe skin dermatitis, multiple allergies and metabolic wasting (SAM) syndrome is a rare life-threatening inherited condition caused by bi-allelic mutations in DSG1 encoding desmoglein 1. The disease was initially reported to manifest with severe erythroderma, failure to thrive, atopic manifestations, recurrent infections, hypotrichosis and palmoplantar keratoderma. We present 3 new cases of SAM syndrome in 2 families and review the cases published so far.

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis. Whole-exome sequencing of affected individuals from a consanguineous Tunisian family and a large Israeli family revealed a homozygous frameshift mutation, c.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Objective: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients.

Design: Multicenter, retrospective, questionnaire-based survey.

Setting: Dermatology research institute.

Treatment outcome of acne vulgaris with oral isotretinoin.

Objective: To determine the clinical efficacy of oral isotretinoin in the treatment of severe acne and assess its effect on total serum cholesterol, triglycerides, HDL-cholesterol and Low-Density Lipoprotein-cholesterol (LDL-cholesterol).

Study Design: A cohort, descriptive, hospital-based study.

Place And Duration Of Study: Al-Ain Medical District, Tawam Hospital, United Arab Emirates, from 1994 to 2002.

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

Congenital ichthyosis encompasses a heterogeneous group of disorders of cornification. Isolated forms and syndromic ichthyosis can be differentiated. We have analyzed two consanguineous families from the United Arab Emirates and Turkey with an autosomal recessive syndrome of diffuse congenital ichthyosis, patchy follicular atrophoderma, generalized and diffuse nonscarring hypotrichosis, marked hypohidrosis, and woolly hair (OMIM 602400).

The angiotensin-converting enzyme (ACE) gene insertion/deletion dimorphism tracks with higher serum ace activities in both younger and older subjects.

Background: The absence of a 287 base pair alu sequence in the ACE gene (D allele) is associated with higher ACE levels than its presence (I allele) in adults. We carried out a case-control study of the ACE*I/D dimorphism in relation to circulating ACE activities to evaluate associations between the two variables in adults, compared to younger (18 years or less) individuals.

Materials And Methods: Genotypes of the ACE*I/D dimorphism were determined on DNA samples from a population of 164 random (unrelated) Emirate nationals, composed of two groups: 112 subjects above 18 years of age (range=20-77 years), and 52 subjects of 18 years or less (range=1-18), and analyzed for putative associations with serum ACE activities.

Analysis of the apolipoprotein B gene 3' hypervariable region among nationals of the Abu Dhabi Emirate and comparisons with other populations.

Background: Among all the polymorphic markers available to date, a hypervariable region located in the 3' of the human apolipoprotein B gene has been extensively studied in global populations throughout the world.

Patients And Methods: Using a polymerase chain reaction-based assay, we investigated the allele and genotype frequency distributions of the alleles (corresponding to repeats of a 30 base-pair core DNA sequence) of this hypervariable region in a group of 367 unrelated nationals (201 males, 166 females) from the United Arab Emirates.

Results: We found 18 different alleles, ranging from 21 to 55 repeats, making up 51 genotypes that occurred in Hardy-Weinberg proportions and were associated with a heterozygosity index of 80.

[Cutaneous leishmaniasis following military deployment to Iraq].

Cutaneous leishmaniasis (CL) is a parasitic disease of the tropics and subtropics, transmitted by bites of infected female phlebotonine sandflies. Although CL lesions are normally self-healing they may be disfiguring or potentially disabling, and in field conditions may become secondarily infected; clinical intervention is appropriate in these circumstances. We describe two soldiers normally stationed in British Forces Germany who following deployment to Iraq presented with Leishmania tropica infection.

Xeroderma pigmentosum in four siblings with three different types of malignancies simultaneously in one.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease characterized by marked sensitivity to ultraviolet radiation that leads to the development of multiple skin malignancies. The authors describe four XP siblings in a consanguineous Pakistani family. The first patient was a boy who died at age 2 years.

Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia.

Genetic mutations in alpha6beta4 integrin cause junctional epidermolysis bullosa with pyloric atresia, a genodermatosis characterized by blistering of the skin and pyloric occlusion. The lethal form of junctional epidermolysis bullosa with pyloric atresia has been mainly associated with the presence of premature termination codons in the mRNA encoding either the alpha6 or beta4 subunit causing rapid decay of the mutated transcript and absence of alpha6beta4 integrin. In this study, we disclose the genetic background of lethal junctional epidermolysis bullosa with pyloric atresia in a patient presenting absent expression of alpha6 integrin despite normal steady-state level of the alpha6beta4 mRNA.

Associations between the human insulin gene 5' VNTR and clinical variables of the renin-angiotensin system.

Background: Blood pressure regulation is a complex process influenced by numerous environmental and genetic factors. Consequently, there's no cookie-cutter approach for the elucidation of of the genetic mechanism involved. One of the goals of molecular geneticists in the field of hypertension is to unravel the genetic architecture of blood pressure regulation.

Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions.

Background: Congenital atrichias represent a complex and heterogeneous group of genodermatoses, which have been shown in several consanguineous families to result from homozygous mutations in the hairless gene (HR).

Objectives: To identify the molecular basis of congenital atrichia in a non-consanguineous family.

Methods: Genetic analysis was carried out in a two-generation family with two children with congenital atrichia and one healthy child.

Etiology of toe-web disease in Al-Ain, United Arab Emirates: bacteriological and mycological studies.

We examined and sampled 45 patients with toe-web intertrigo for bacteriological and mycological studies. Prominent isolated pathogens were the genus Candida (57.7%), genus Aspergillus (28.

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Mal de Meleda (MDM) or keratosis palmoplantaris transgrediens of Siemens is an autosomal recessive skin disorder characterized by diffuse palmoplantar keratoderma (PPK) and transgressive keratosis with an onset in early infancy. There is no associated involvement of other organs; however, a spectrum of clinical presentations with optional and variable features has been described. Mutations in the ARS (component B)-81/s gene ( LY6LS) on chromosome 8q24-qter, which encodes SLURP-1, have recently been identified in patients with MDM.

An analysis of skin prick test reactions in asthmatics in a hot climate and desert environment.

Background: Studies have shown that allergens are very important sensitizing agents in patients with asthma. Respiratory disorders such as asthma and allergic rhinitis are common in the United Arab Emirates, (UAE).

Objectives: The aim of this study was to investigate the relationship between allergen specific IgE antibodies and skin test reactivity in patients with asthma in hot climate and desert Arabian country.

L-2-hydroxyglutaric aciduria in two siblings.

Two Pakistani siblings with L-2-hydroxyglutaric aciduria are reported herein. A 6-year-old male and a 2-year-old female, born to consanguineous parents, had chronic slowly progressive neurodegenerative disorder with insidious onset after infancy. Mental regression and seizures were evident in both patients, whereas cerebellar dysfunction was the main motor handicap in the male and pyramidal symptoms were prominent in the female.

Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

Background: Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone. This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored.

Association of acanthosis nigricans with risk of diabetes mellitus, and hormonal disturbances in arabian females: case-control study.

Objective: To aim of the present study is to determine the association of acanthosis nigricans(AN) with risk of diabetes mellitus, and hormonal levels in female subjects from the United Arab Emirates (UAE).

Design: Matched case-control study.

Setting: Tawam Teaching Hospital of Faculty of Medicine and Health Sciences.

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation.

Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1.