Juvenile hemochromatosis in iran: a case report with 5-year follow-up after treatment

Juvenile hemochromatosis is a rare autosomal recessive disorder that typically occurs in the first to third decades of life. Its symptoms are more acute and severe than classic hemochromatosis. We describe a 27-year-old man who was referred to the gastrointestinal clinic with a probable diagnosis of fatty liver and was finally diagnosed as having juvenile hemochromatosis. A review of the scientific literature reveals that recently only three siblings suffering from the disease have been reported in Iran

Dyskeratosis congenita without oral involvement: a rare hereditary disease

Dyskeratosis congenita [DC] is a rare, progressive, multi-system, inherited disorder of telomere biology, first described in 1906 as the Zinsser-Engman-Cole syndrome. The condition presents with the classic triad of nail dystrophy, reticulate skin pigmentation, and oral leukoplakia. Variable somatic abnormalities may be present; these include pulmonary, gastrointestinal, genitourinary, cerebral, and dental complications. Pancytopenia eventually develops, progressing to bone marrow failure. In our patient, the progression of DC did not follow the [classic triad] typically seen in the condition. Here we report the case of a 27-year-old male who had features consistent with this syndrome but who had a normal oral cavity associated with aplastic anemia for which longstanding nail dystrophy and reticular pigmentation were the dominant clinical features. The patient was advised to avoid smoking and severe exposure to the sun, and to return regularly for follow-up. Because all symptoms of this disorder are not necessarily seen collectively in any one patient, physicians should consider it as a probability in all patients showing signs of reticular hyperpigmentation, especially accompanied by aplastic anemia. Our report emphasizes the fact that not all components of the syndrome need to be present and in all cases of genodermatosis, pleomorphism may be expected with variable clinical manifestations. Even though many variants have been described in literature, sparing of the oral cavity as in our patient is extremely uncommon. Therefore, physicians should be aware of the mucocutaneous manifestation of DC and its diagnosis and refer the patient for better evaluation

Hypocalcemic seizure and related factors after neonatal period; A single-center, retrospective study

Seizures are the most common disorder of the central nervous system in childhood and constitute a significant number of admissions to the pediatric emergency departments. The aim of this study is evaluate the etiology of hypocalcemic seizures in pediatrics. A single-center, hospital based descriptive study was done in the academic referral center for hypocalcemic seizure of Tehran University of Medical Sciences, Iran. Data was evaluated based on the medical records of each patient. Case files of these children's were analyzed for age at presentation, sex, weight, clinical features, biochemical parameters [serum calcium, magnesium, phosphorus and alkaline phosphatase] ,type of seizure, history of previous seizure and history of drug intake. A total 38 children with hypocalcemic seizure, consisting of 19 boys and 19 girls, with ages ranging from one month to 14 years, were enrolled in this study. The most common patterns of seizures were generalized seizures [83.8%]. the mean levels of serum alkaline phosphatase was significantly greater in patients under the age of 2 years [1234 +/- 541.03] rather above than 7 years of age [922.75 +/- 147.45] [p = .021]. Rickets was the commonest cause of seizures rickets were diagnosis in 80.8% subjects under 2 years of age, whereas none of those over 7 years old had not rickets , these results were statistically significant [p = .015]. Current observational study indicates that rickets could be a major cause of hypocalcemic convulsion in infants and children. Screening children presenting with hypocalcemic convulsions for rickets and/or other cause of hypocalcemia can help in early diagnosis and institution of specific therapy

Thinking outside the skin: Look at the thyroid for true diagnosis

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. We report first case of acquired plantar keratoderma associated with undiagnosed hypothyroidism in Down syndrome

Orf disease following "Eid ul Adha": a rare cause of erythema multiforme

Orf, also known as contagious pustular dermatitis, is anexanthemous disease caused by a parapox virus. It is usuallya benign locally self-limiting illness; it can have systemiccomplication or progressive infected locations can include thefinger, hand, arm, and face. Development of erythema multiforme following Orf infection is very rare. In Islamic populations suchas those of Iran, Orf can be observed in individuals who are notoccupationally involved, but may be in contact with sheep or goatsafter the Islamic worship as an "Eid ul-Adha." Here we reportan erythema multiforme associated with multiple lesion of Orfdisease following the "Eid ul-Adha" in Iranian housewives