Omenn's disease.
The importance of accurate pathological diagnosis is emphasised in the case of a newborn infant who presented with alopecia, a generalised erythrodermatous skin eruption, and hepatosplenomegaly. She subsequently developed generalised lymphadenopathy and recurrent septicaemia and died aged 2 months. The histological findings of widespread lymphocytic, histiocytic, and eosinophilic tissue infiltration, associated with thymic hypoplasia, were consistent with autosomal recessive Omenn's disease.
Dyke
M P
MP
Department of Child Health, University of Bristol.
Marlow
N
N
Berry
P J
PJ
D000505:Alopecia / Q000235:genetics; D001853:Bone Marrow / Q000473:pathology; D003873:Dermatitis, Exfoliative / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006529:Hepatomegaly / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008198:Lymph Nodes / Q000473:pathology; D008206:Lymphatic Diseases / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013163:Splenomegaly / Q000235:genetics; D013577:Syndrome