The case of a neonate with cutaneous lesions consistent with epidermal naevi is presented. In addition to typical epidermal naevi, this baby had an unusual, bullous form of aplasia cutis congenita. Although aplasia cutis has been described as bullous and has been found in association with the epidermal naevus syndrome, both of these occurrences are rare in medical publications. This case illust...

Background: Congenital anomalies of the kidney and urinary tract, also known as CAKUT, represents a spectrum conditions from complete bilateral renal aplasia (i.e. agenesis), to unilateral aplasia, hypoplasia (defined small kidneys < 2SD below expected mean), dysplasia where fail differentiate normally. CAKUT are present in 3 7 out 1000 births, accounting for 20-30% all detected prenatal period...

Bronchocentric granulomatosis developed in a patient with previously diagnosed pure red cell aplasia and lymphadenopathy. There was an excellent response to corticosteroid treatment. An immunological pathogenesis common to bronchocentric granulomatosis and pure red cell aplasia is suggested.

mal cells having a better capacity to protect themselves.2 In CML patients developing severe BM aplasia the normal progenitor cells compartment loses the ability to adapt and the BM reservoir is severely compromised. In our case the patient received hydroxyurea for only 4 weeks and developed severe aplasia ten months later. Therefore in our case IFNplayed a pivotal role in the development of BM...

The mechanistic interplay between pesticide exposure and development of marrow aplasia is not yet well established but there are indices that chronic pesticide exposure in some instances causes marrow aplasia like haematopoietic degenerative condition in human beings. Canonical Hedgehog (Hh) signalling has multiple roles in a wide range of developmental processes, including haematopoiesis. The ...

A Bedouin infant born to consanguineous parents and grandparents is reported. She had Müllerian aplasia and the phenotypic features of the limb/pelvis-hypoplasia/aplasia syndrome (MIM 276820). Phenotypic variability of this newly recognised syndrome is briefly discussed.

Aplasia cutis congenita is a rare skin condition characterized by the absence of localized or widespread areas of skin at birth. We are reporting a variant aplasia cutis congenita, which involved over 90% of the body surface area, which occurred in a baby born to a mother with pemphigus vulgaris who was on oral prednisolone and azathioprine. A case of extensive aplasia cutis congenita was seen ...

pulmonary agenesis is a very rare condition and many of them are associated with a variety of cardiac and non-cardiac malformations. we report an eight-month old girl with chronic lung infection due to right sided pulmonary agenesis without any associated major cardiac or non-cardiac abnormalities. the case brings in forth the importance of investigating any infant presenting with features of c...

INTRODUCTION Pure red cell aplasia due to anti-epoetin antibodies is a known complication of epoetin therapy for anemia due to chronic kidney disease. This disease has not previously been well described in the setting of therapy for chronic hepatitis C virus infection. While treatment for pure red cell aplasia due to anti-epoetin antibodies is usually with immunosuppressive therapy such as calc...