A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I.

Ligneous conjunctivitis with oral mucous membrane involvement and decreased plasminogen level.

Ligneous conjunctivitis (MIM 217090) is a rare autosomal recessive hereditary disorder. We report a case with both ligneous conjunctivitis and ligneous periodontitis in association with plasminogen type I deficiency. Diagnosis was based on the clinical and histological findings and most importantly, decreased serum level of plasminogen type I.

Crude Coal Tar and Ultraviolet (UV) A radiation (Modified Goeckerman Technique) in Treatment of Psoriasis.

Psoriasis is a chronic inflammatory dermatosis that has a substantial impact on the quality of life. Goeckerman's technique (GT) has been implemented for the treatment of psoriasis with high clearance rates and long periods of remission. The objective of this article was to evaluate the efficacy and safety of modified GT (crude coal tar 2.5% plus UVA) as an alternative therapeutic modality for psoriatic patients with skin types III-V. Twenty two patients with moderate, severe, and erythrodermic psoriasis were included in this study. All patients received modified GT (crude coal tar 2.5% plus UVA) six days per week for a period of 3 months. Assessment of the rate of reduction of psoriasis area severity index (PASI) was performed, as well as photographic documentation of each patient at baseline and after completion of therapy. There was a significant reduction in PASI scores after therapy in all patients (P=0.001). The rate of PASI reduction after therapy was >50% in 63.6% of patients; 27.3% of patients achieved >75% reduction and 9.1% of patients achieved 26-50% reduction. No serious side effects were reported in any of the patients. Modified GT is a safe and effective therapeutic option for patients with moderate and severe psoriasis.

Sulfasalazine and pentoxifylline in psoriasis: a possible safe alternative.

BACKGROUND: Conventional therapy of extensive psoriasis is effective but has complications. Biologics are safer but expensive. OBJECTIVE: To assess the efficacy of sulfasalazine and pentoxifylline, which have TNF antagonizing and anti-proliferative action in the treatment of psoriasis. METHODS: In this randomized controlled trial, 32 patients with extensive psoriasis were divided into four groups: group A received sulfasalazine; group B received pentoxifylline; group C received both drugs; and group D received methotrexate. The Psoriasis Area and Severity Index (PASI) score was done at weeks 0, 2, 4, 6 and 8. RESULTS: A significant reduction in PASI score occurred in groups C and D (p = 0.043 and 0.018, respectively). A significantly higher percentage of PASI score reduction occurred in group D compared with groups A, B and C (p = 0.006, 0.003 and 0.030, respectively). An excellent response occurred in one patient (14.3%) in group D. A very good response occurred in two patients (22.2%) in group C, and in five patients (71.4%) in group D. A moderate response occurred in three patients (37.5%) in group A, one patient (12.5%) in group B, and one patient (14.3%) in group D. CONCLUSION: Although incomparable to methotrexate, combined sulfasalazine and pentoxifylline produced a good response in cases of extensive psoriasis. Multicentre studies are needed to validate these results.

Pentoxifylline (anti-tumor necrosis factor drug): effective adjuvant therapy in the control of ocular cicatricial pemphigoid.

PURPOSE: The detection of tumor necrosis factor-a (TNF-a) in conjunctiva affected by ocular cicatricial pemphigoid (OCP) may indicate that this cytokine plays an important role in its pathogenesis. The purpose of this randomized, controlled, comparative, blinded study was to evaluate the effectiveness of adding pentoxifylline as an anti-TNF-a drug to the well-documented therapy of steroids and cyclophosphamide in controlling OCP. METHODS: Thirty patients with different grades of OCP were included. They were randomly divided into 2 equal groups. Group A patients received pulse steroid and cyclophosphamide therapy; in addition, group B patients received intravenous pentoxifylline. Patients were evaluated before and after therapy clinically, histopathologically, and serologically (serum level of TNF-a). Twenty controls were included to compare their serum TNF-a level with that measured in patients with OCP. RESULTS: Group B patients showed a more significant improvement in their clinical and histopathologic evaluation. The serum TNF-a was significantly higher in OCP cases prior to therapy compared to the control group (p = 0.0001). Following therapy, serum TNF-a showed a more significant reduction in group B patients (77.4 ± 26.1 to 19.2 ± 15.6) compared to group A patients (50.3 ± 14.3 to 36.2 ± 18.3). CONCLUSIONS: The significantly increased level of serum TNF-a in OCP as compared to controls proves that TNF-a has an important role in the pathogenesis of this disease. The study illustrates that the addition of pentoxifylline to pulse steroid cyclophosphamide therapy is an effective, safe, and economical method in controlling OCP through directly reducing TNF-a levels, with long periods of remission as detected in our 18-month follow-up period.