Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.

Background: Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous blistering skin disease, but in countries such as Kuwait, there are very limited data on the clinical and molecular pathology of EB. To improve understanding of EB in Kuwait, we report the experience of a local tertiary referral center over a 17.5 year period (January 2000-June 2017) in establishing clinical and molecular diagnoses.

Mycosis fungoides in Arab children and adolescents: a report of 36 patients from Kuwait.

Mycosis fungoides (MF) is rare in children and adolescents. This study was aimed to determine the clinicoepidemiologic features of juvenile onset (≤18 yrs) MF in Kuwait. Thirty-six children and adolescents (≤18 yrs) with MF registered in a referral photobiology unit for cutaneous lymphomas between July 1991 and June 2009 were included in this study.

Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene.

Unlabelled: Allgrove syndrome (or triple-A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency (glucocorticoid in the majority of cases) and autonomic/neurological abnormalities. This disease is now known to be caused by mutation in the AAAS gene located on chromosome 12q13. Diagnosis should be readily available when the full-blown features are there, but it becomes less apparent when presentation is atypical or in the evolving process.

Profiles of activated T lymphocytes in peripheral blood of Kuwaiti psoriasis vulgaris patients.

We have previously reported unexpected immunological features of psoriasis among Kuwaitis, suggesting novel patterns of immune reactivity contributing to the disease. To better define this phenomenon, we herein describe profiles of major populations and immunologically activated subsets of peripheral blood lymphocytes in a cohort of Kuwaiti psoriasis vulgaris patients. Whole venous blood from fifteen psoriatic and twenty eight normal, healthy subjects was analyzed by 2-color flow cytometry for levels of major lymphocyte species and their immunologically activated subsets.

Elevated B-lymphocyte levels in lesional tissue of non-arthritic psoriasis.

Psoriasis is a chronic inflammatory skin disorder characterized clinically by maculopapular skin lesions and on the cellular level by increased T-lymphocyte activation in the peripheral blood and migration of activated T-lymphocyte into the lesions. The lymphocyte subpopulations in peripheral blood from 21 Kuwaiti patients showed elevated levels of the T-lymphocyte activation marker CD25, as well as increased expression of HLA-DR compared with a group of age and sex-matched controls, confirming published findings on psoriasis. In addition, there was a tendency towards a significant increase in the CD4+/CD45RO+ (memory cell) population that was also consistent with peripheral T-lymphocyte activation.

Peripheral T-cell activation in non-segmental vitiligo.

Vitiligo is a hypopigmentary dermatosis of probable autoimmune origin. Previously reported aberrations in peripheral blood mononuclear cells (PBMC), especially T cells and T cell subsets, have been inconsistent. Lymphocyte subpopulations were examined using flow cytometry and monoclonal antibodies against CD4, CD8, CD20, CD25, CD45RA, and HLA-DR in 34 patients with non-segmental vitiligo.

beta-Thalassaemia major in Kuwait.

A combined retrospective and prospective study of 129 beta-thalassaemia major patients seen between 1965 and 1995 in Sabah Hospital, Kuwait has been carried out. The age range at diagnosis was 2 to 84 months, median 9 months. In approximately 80 per cent, the patients were outcomes of first- or second-cousin marriages.

An epidemiologic, clinical, and therapeutic study of childhood Guillain-Barré syndrome in Kuwait: is it related to the oral polio vaccine?

We studied Guillain-Barré syndrome, affecting children 12 years old or less, throughout Kuwait, in the period between January 1, 1992, and March 31, 1997. Nineteen children had the diagnostic criteria of Guillain-Barré syndrome, with an overall annual incidence rate of 0.95/100,000 population at risk.

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone.

Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging.

Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of their peripheral blood lymphocyte cultures.

Genotypic/phenotypic heterogeneity of selective vitamin B12 malabsorption (Grasbeck-Imerslund syndrome) in two Bedouin families.

We report on seven patients in two unrelated consanguineous Bedouin families with Grasbeck-Imerslund syndrome. Pedigree analysis in Family 1 was suggestive of an X-linked mode of inheritance. Intra- and inter-familial heterogeneity was elicited among the affected children in both families.

Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?

We describe a Bedouin boy with multiple congenital anomalies/mental retardation (MCA/MR). He has frontal bossing, ridged metopic suture, bilateral ptosis, right squint, depressed nasal bridge, small nose, anteverted nostrils, lobulated tongue, polydactyly of both hands, microphallus, hypoplastic scrotum, microtestes, dysgenesis of corpus callosum, and a Dandy-Walker variant. This phenotype overlaps both the Varadi-Papp syndrome (OFD VI) and Opitz trigonocephaly (C syndrome).

Febrile urinary tract infection in children: Role of 99MTc-dimercaptosuccinic acid (DMSA) scan and other imaging techniques.

Fifty children (37 females and 13 males) with first febrile urinary tract infections were studied to assess the value of 99MTc-dimercaptosuccinic acid (DMSA) scan in detecting inflammatory changes of acute pyelonephritis (APN). These findings were compared with renal ultrasonography (US). We also evaluated the reliability of clinical and laboratory observations in diagnosing acute pyelonephritis (APN).

Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

HLA antigens in Arab children with steroid-responsive nephrotic syndrome.

Forty-eight Arab patients with steroid-responsive childhood nephrotic syndrome were studied for the frequency of HLA-A, -B, -C and -DR antigens. HLA-DR7 was significantly increased in the patient group (63% vs. 28%, P = 0.

Cutaneous leishmaniasis in Kuwait. Clinical experience with itraconazole.

Twenty-four patients suffering from single or multiple lesions of cutaneous leishmaniasis were included in this study. Most of the lesions were on the extremities. The patients were randomly divided into two groups.

Clinical report of Blastocystis hominis infection in children.

During a 9-month hospital-based survey, the intestinal parasite Blastocystis hominis was detected in high numbers (five or more organisms per oil immersion field) in faecal specimens from 39 (2%) of 1960 children under 13 years old. Abdominal pain or discomfort with or without diarrhoea was present in 32 children categorized as acute (14), subacute (7) or chronic (11) cases with respective mean ages of 6.4, 7.

Trends in pediatric casualties in a regional hospital of Kuwait.

The purpose of this study was to statistically analyze the emergency care services of the Paediatric Department of Farwania Hospital, Kuwait. The study was conducted from 1 July 1987 until 30 June 1988, during which a total of 77,497 cases were recorded (41,594 [53.7%] males; 35,903 [46.

Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome?

Two siblings of consanguineous Arab parents were found to have cystic fibrosis and gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anaemia, subnormal mentality and minor anomalies. The association of H. pylori and megaloblastic anaemia has not been described in patients with cystic fibrosis.

Successful pregnancies following remission in childhood acute lymphoblastic leukaemia--case report.

We report two successful pregnancies in a 17-year-old Arab girl who had received modern combination chemotherapy and central nervous system minimal disease therapy for childhood acute lymphoblastic leukaemia at the age of 9.5 years.