16 research outputs found
PROGERIA IN SIBLINGS: A RARE CASE REPORT
Progeria, also known as Hutchinson-Gilford syndrome, is an extremely rare, severe genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. It is an autosomal dominant disorder. It is not seen in siblings of affected children although there are very few case reports of progeria affecting more than one child in a family. Here we are presenting two siblings, a 14-year-old male and a 13-year-old female with features of progeria, suggesting a possible autosomal recessive inheritance
Naxos Disease in Two Siblings
Naxos disease is a rare cardiocutaneous disorder characterized by palmoplantar keratoderma, woolly hair and arrythmogenic right ventricular cardiomyopathy. We report two siblings with Naxos disease with right middle lobe syndrome in one of them
ALKAPTONURIA
A case of alkaptonuria, a rare disorder with autosomal recessive inheritance, is reported here. The patient had palmar pigmentation in addition to the usual features of alkaptonuria
HYPEREOSINOPHILIC SYNDROME: CUTANEOUS INVOLVEMENT AS THE SOLE MANIFESTATION
Hypereosinophilic syndrome (HES) encompasses a group of leukoproliferative disorders with variable involvement of the internal organs. More than half of all patients have cutaneous involvement. In a minority of the reported cases, skin involvement has been the only manifestation of HES . We report one such rare case of HES, with cutaneous involvement as the sole manifestation