Hirschsprung’s disease associated with alopecia universalis congenita: a case report

摘要

BackgroundHirschsprung’s disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung’s disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down’s syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage–hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies. In our patient, Hirschsprung’s disease was associated with alopecia universalis. Alopecia universalis congenita is a rare disorder of skin characterized by generalized absence of hair at or shortly after birth. The inheritance patterns range from autosomal recessive, dominant or X-linked recessive forms. The autosomal recessive form is the most common and severe type in which patients present with complete absence of hair development, affecting the entire scalp and body. Alopecia universalis congenita occurs either in isolation or as a part of congenital syndromes. Here, we report the case of a neonate who presented with Hirschsprung’s disease with alopecia universalis congenita, an association which has not been reported before.