Sjogren-Larsson Syndrome (SLS) is an inherited autosomal recessive neurocutaneous disorder with congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We report a case of Sjogren-Larsson Syndrome with clinical profile (mental retardation, ichthyosis, spastic diplegia) and MRI findings such as seen in multiple sclerosis (MS). So this rare syndrome can be another differen...

keratoderma is a group of disorders characterized by abnormal thickening of skin. acquired palmar keratoderma has many underlying causes. the association of thyroid disease and palmar keratoderma rarely reported. hypothyroidism, although very rare association, must be suspected in patients with acquired ppk, particularly when it occurs in setting of systemic symptoms or predisposing conditions....

abstract a 2.5 year old girl is presented with both hands constriction bands leading to distal amputations and the rare deformity of shoulder duplication in the right side accompanying constriction skin marking over the affected shoulder. the cephalomedial scapula articulated with the clavicle and the caudolateral scapula articulated with humeral head. the most important physical finding which ...

conclusions the frequency of rls among our patients was remarkable and we conclude that all patients who are undergoing hemodialysis should be screened for rls, which can assist in providing proper attention and treatment. results according to our results, 54.5% of patients were diagnosed with rls, and of those 65.2% and 42.9% were women and men, respectively. rls is seen more often among patie...

purpose: to report two sisters with congenital myasthenic syndrome (cms) masquerading as myasthenia gravis. patients and findings: two six and seven years old sisters presented with variable strabismus, ptosis, and fatigue. all symptoms were aggravated with exercise and improved with rest. intramuscular prostigmin injection decreased their symptoms. a diagnosis of cms was made according to earl...

background thymus species are well known medicinal plants which the previous studies suggested the involvement of the opioid system in them. objectives this study aimed to investigate the effects of methanolic extract and essential oil of aerial parts of thymus daenensis (td), an endemic aromatic medicinal plant of iran, on morphine withdrawal syndrome in mice. materials and methods experiments...

statement of problem: papillon lefevre syndrome (pls) is a rate autosomal recessive disorder, which is characterized by palmar- plantar hyperkeratosis and rapid periodontal destruction of primary and permanent dentitions. purpose: the aim of the present study was to evaluate the peripheral blood neutrophil function including random locomotion, chemotaxis and oxidative mechanism of killing in a ...

premenstrual syndrome (pms) is a hormone dependent pathophysiologic state with known somatic and affective symptoms. vitamin d3 as a secosteroid hormone has different effects on several disorders. in this review, we declared some potential benefits of vitamin d3 regarding alleviation of pms symptoms; also, we have reported the results of literature review about vitamin d and pms.

schwartz-jampel syndrome, (sjs) is a rare disorder characterized by myotonia, joint contracture, facial dysmorphism and growth retardation, we present three siblings (two sisters and one brother) 19,24 and 27 years old from consanguineous healthy parents with sjs. their clinical features were similar to those previously described. motor and sensory nerve conduction study (ncs) were compatible w...

zellweger syndrome (zs) is a peroxisomal disorder with a multiple congenital anomalies, characterized by stereotypical facies, profound hypotonia, organ involvement including cerebral, retinal, hepatic, and renal. herein, a 3-month-old female with zs is presented who was referred because of increased liver enzymes (subclinical hepatitis), which was detected in work-up of her neck cyst, severe h...