ABSTRACT
Background: Harlequin ichthyosis (HI) is a severe and rare autosomal recessive congenital ichthyosis, characterized by severe hyperkeratosis, extensive fissuring and massive, diamond-shaped scales which limit the child’s movements. The term harlequin comes from the baby’s facial expression and diamond-shaped pattern of the scales like the 17th century entertainers, harlequins. The underlying genetic abnormality has been identified as a mutation in the lipid-transporter gene ABCA 12 on chromosome 2q35. Aim and objectives: To provide a comprehensive knowledge of severe forms of congenital ichthyosis, the harlequin ichthyosis and abolish the superstitious notion regarding the appearance of the neonate. Materials and Methods: The present report is case of premature girl baby delivered at MIMS, Mandya. The neonate presented plaques of rigid fixed skin, separated by deep red fissures, facial features were obliterated by thickened skin, undeveloped nose and pinna, severe ectropion and eclabium. Intensive care was given and survival was prolonged by systemic retinoids. The neonate succumbed to respiratory failure few days later. Results and conclusion: The present study gives a comprehensive knowledge of harlequin ichthyosis and provides emphasis on sensitization of the disease to prevent any misconception or superstition. Also lays emphasis on Genetic counseling of the couple to prevent further occurrences.
ABSTRACT
Background and purpose: The sphenoid sinus is characterized by the frequency of anatomical variants that cause operative difficulties and complications during the transphenoidal approach. These variants involve the geographic factor and the type of skin phenotype. Most of the studies have been carried out on European, North African and Asian populations. Some studies have been found in sub-Saharan Africa but not in Côte d’Ivoire. The aim was to determine, from CT data, the anatomical characteristics of the sphenoid sinus in the Ivorian population. Methods: Cranioencephalic computed tomography images of 100 patients (80 men and 20 women aged 16 to 71) were used for the study. These were patients who presented with head trauma without injury to the base of the skull. Were studied the anatomical characteristics of the sphenoid sinus. Results: The type of pneumatization was sellar in 58% sinuses, pre sellar in 41% and conchal in 1% of cases. The presellar type predominated in women (60%) and the sellar type in men (65.5%). Extensions were present in 66.34% of cases, more frequent in men (70%), in the sellar type (79.31%), and in the anterior clinoid process (46.20%). The procidence of vasculo-nervous structures was more frequent in men (52.62%) and in the sellar type (62.07%), the procidence of the internal carotid artery was bilateral in 30.69% of sinuses, that of the optic nerve was mainly unilateral left (07.92%) more frequent in women ( 10%) and in the sellaire type (09.43%). Dehiscence was present in 15% of cases. Dominance was straight in 63.64% of the sinuses. The Onodi cell was present in 65% of sinuses. The ostium was bilateral in (45%) of the sinuses. Conclusion: The Ivorian sphenoid sinus is highly pneumatized, facilitating access to the surgeon; the sellar type is the most frequent. On the other hand, the frequency of procidence and dehiscence of vasculo-nervous elements increases the risk of surgical complications. Differences between genders and between types of pneumatization should be considered in sphenoid sinus procedures.