ABSTRACT
Background: Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis. Hyalin-like material is deposited in multiple organs, including the skin, oral mucosa, larynx, and brain. Only about 300 cases have been reported in the literature so far. Occurrence of LP in siblings is also rare. The reasons for relatively large number of cases, the clinical features of the patients, and the association of LP with other clinical conditions are described in this article. Aims: The aim of this study is to show that LP is not rare in Turkey and consanguineous marriage is still a social problem. Methods: We included patients between the years of 2008-2011 with lesions resembling LP. Based on the findings of clinical and histological examination of all cases, a diagnosis of LP was made. Results: We presented six different families with multiple family members suffered from LP. In total, we determined eight children and six adult patients. Three of eight children were from the same family (sisters), the other three children belonged to another family (brothers), two children were from another family (brother and sister), and the adult patients were from three different families. Conclusions: Patients with LP are likely to present first to a dermatologist because of the appearance of their skin; therefore, it is important that the dermatologic diagnosis is not to be missed. We described patients with LP and discuss the salient features of this disease.
ABSTRACT
Background: Consanguinity describes a relationship between two people who share an ancestor, or share blood. These consanguineous marriages are a major risk to the health of offsprings till the extent that they can cause various craniofacial abnormalities, orofacial pigmentations and other abnormal birth defects. We conducted a study on patients visiting a dental college in North India to accesses the possible deleterious effects of consanguineous marriages on oral and craniofacial structures. Methodology: The study group comprised of all the patients visiting outpatient department of Kotiwal Dental college and Research centre, Moradabad in North India from March 2009 to February 2010. 200 patients showed positive history of consanguinity. They were carefully evaluated and all the diagnostic information was noted. Results: 66 out of 200 patients had systemic disorders like cardiovascular, pulmonary and renal disturbances. 56 patients had orofacial manifestations like orofacial pigmentations, craniofacial syndromes and occlusal abnormalities with or without systemic disorders. Conclusion:The prevalence of consanguineous marriages is still high. Consanguineous marriages are a major risk to the health of offsprings till the extent that they can cause various craniofacial abnormalities, orofacial pigmentations and other abnormal birth defects. They increase the autosomal recessive conditions through the expression of recessive deleterious alleles, especially in the offspring of first degree cousins