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• W2519202233 abstract "Hirschsprung’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. A preterm (33 weeks’ gestation) 1.4 kg Indian baby girl was born to a gravida two mother by caesarean section. At birth, clinical examination revealed total absence of scalp and body hair. On day 3, she had bilious vomiting and a barium study was suggestive of Hirschsprung’s disease. An exploratory laparotomy and intestinal biopsy report revealed aganglionic muscularis propria; a skin biopsy from her scalp was suggestive of alopecia universalis. Postoperatively, she died due to multiorgan failure. Her family history revealed that her elder sibling also had alopecia universalis and esophageal atresia. This child died on day twelve. Our patient’s clinical features and the biopsy reports confirmed our diagnosis of Hirschsprung’s disease with alopecia universalis congenita. A diagnosis of Hirschsprung’s disease should make treating clinicians actively investigate for any associated syndromes and anomalies. Alopecia is an unusual association with Hirschsprung’s disease. Alopecia universalis congenita is the most severe form of alopecia areata. Early diagnosis and classification is essential for appropriate and timely management of such cases." @default.
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• W2519202233 date "2016-09-15" @default.
• W2519202233 modified "2023-09-25" @default.
• W2519202233 title "Hirschsprung’s disease associated with alopecia universalis congenita: a case report" @default.
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• W2519202233 doi "https://doi.org/10.1186/s13256-016-1035-z" @default.
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