Farber disease overlapping with stiff skin syndrome: expanding the spectrum

Farber Disease [MIM 228000][1] is a rare AR disorder first described by Sidney Farber in 1952[2]. Farber disease is usually recognized by the presence of three symptoms: Painful and progressively deformed joints, nodules under the skin and progressive hoarseness. Other organ systems may also be involved. As with most lysosomal storage diseases, the course of Farber's Disease is progressive and death typically occurs in infancy. Stiff skin syndrome [SSS] [MIM% 184900][1] was first described by Esterly and McKusick as a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with flexion contractures. Diagnosis and clarification of overlapping in the clinical presentation of the studied case. Clinical report of an atypically presenting Farber case and analyzing the overlapping manifestations between the two syndromes. Histopathological study was the conclusive diagnostic key in our case. Recognition of atypical or abortive cases is of practical importance as it may affect counseling or therapeutic decision making. Orodental manifestations were not previously considered but they may be of future diagnostic help

Egyptian study of a rare autosomal dominant bilateral persistent hyperplastic primary vitreous

Persistent hyperplastic primary vitreous [PHPV] is an idiopathic congenital malformation confined to the eye that has no obvious cause and that is usually unilateral and sporadic. The clinical features of the classic PHPV syndrome include white, vascularized tissue covering some or all of the posterior surface of the lens; centrally dragged ciliary processes; secondary glaucoma caused by swelling of the lens or caused by contracture of the retrolental tissue, with anterior shifting of the lens-iris diaphragm; extensive intravitrael hemorrhaging; persistence of the hyaloid artery; and occasionally retinal detachment. In the present study we describe a patient with bilateral PHPV unassociated with other diseases. A normal milestone of development was reported. Family pedigree analysis revealed similarly affected father, grandfather, 2 aunts, 1 uncle from paternal side, also a grand uncle with 2 affected daughters. On examination; height, weight, skull circumference were in 5[th] percentile. Bilateral B and A eye scan ultrasonography for both the patient and the father revealed picture suggestive of persistent hyperplastic primary vitreous. Cytogenetics study by conventional culture technique using CTG banding technique revealed normal male karyotype [46, XY] for both of them. Review of London Dysmorphology Data Base [LDDB], OMIM, and recent medical literature revealed that this case to our knowledge represents the second report supporting autosomal dominant inheritance of PHPV unassociated with other anomalies