All issues > Volume 39(9); 1996

Case Report

J Korean Pediatr Soc. 1996;39(9):1315-1320. Published online September 15, 1996.

Two Cases of Congenital Atrichia Associated with the Gastrointestinal Anomaly in Siblings

Jin Kyung JK Jung¹, Sang Ho SH Baik¹, Sa Young SY Kim¹, Eui Tak ET Oh¹, Hong Ja HJ Kang¹, Kil Seo KS Kim¹

¹Department of Pediatrics, Dae Dong Hospital, Pusan, Korea

Abstract

Congenital atrichia is an anomaly characterized by congenital absence of hair in varying degrees as well as the hypopigmentation & poor development of the abnormal residual hair on the scalp, eyebrows, eyelashes & body. Two cases of congenital atrichia in siblings were reviewed. The first case was associated with congenital megacolon and skin biopsy of scalp (esp. parietal region) was non-specific. The second case was associated with bilateral inguinal hernia. Congenital atrichia is inherited by autosomal dominant or recessive. Acording to the limited pedigree data, our cases were X-linked recessive inheritance We report these cases with a review of related literatures.

Keywords :Congenital atrichia, Congenital megacolon, Inguinal hernia