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Case Report
Genetics and Metabolism
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma
Azita Tavasoli, Shirin Sayyahfar, Babak Behnam
Clin Exp Pediatr. 2016;59(6):276-279.   Published online June 30, 2016

Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder with worldwide incidence of 0.4 per 100,000 people. It is characterized by the triad of congenital ichthyosis, spastic diplegia or quadriplegia, and mental retardation. Herein we report a 2-year-old male child with SLS, asthma, and recurrent pneumonia. SLS was confirmed by a molecular genetics study that revealed a deletion mutation...

A Case of Keratitis, Ichthyosis and Deafness(KID) Syndrome
Lan Kim, Dong Hwan Lee
Clin Exp Pediatr. 2003;46(11):1135-1138.   Published online November 15, 2003
KID syndrome was named after the initials of the major three symptoms of the disease; keratitis, ichthyosis, and deafness. The syndrome was first introduced by Dr. Burns in 1915 who described one of his patients with those symptoms. In 1981, Dr. Skinner and his colleagues reported 17 patients who had keratitis, ichthyosis, and deafness. They also called the disease KID...
Original Article
A Case of Lamellar Ichthyosis.
Yeon Seung Lim, Sang Joo Han, Won Il Park, Kyung Ja Lee
Clin Exp Pediatr. 1990;33(7):1018-1023.   Published online July 31, 1990
We observed a case of lamellar ichthyosis who was 4 day-old boy with the chief complaints of poor feeding, exessive lamellated scale covering entire body. Diagnosis of lamellar ichthyosis was estab- lished by clinical features and histopathological study. A brief review of literature was made.
Case Report
Two Cases of the Rud Syndrome in Siblings.
Mi Jeong Lee, Myung Geul Yum, Jung Hwan Choi, Chong Ku Yoon, Hyung Ro Moon
Clin Exp Pediatr. 1985;28(6):610-615.   Published online June 30, 1985
The Rud syndrome, which is characterized by ichthyosis, mental retardation, seizure, dwarfism, sexual infantilism, etc., was described by Rud in 1927 at first. It is hereditary disorder whose mode of inheritance is autosomal recessive. Because the incidence of this syndrome is very rare, the Rud syndrome has not been reported till now in Korea. We experienced two cases of the...
A Case of Collodion Baby.
Jae Gye Ryoo, Hong In Eum, Sang Cheal Lee, Jung Hee Lee
Clin Exp Pediatr. 1983;26(11):1115-1119.   Published online November 30, 1983
Ws expsrienced a ca.ss of Collodion Baby of 6 hours old female infant who was suffering from excs33ive lamellated scale, tight looking appearance and covering entire, body, typical features of parchment like skin, ectropion of upper and lower eyelids and fixed semiflexion position of the limb3. Diagnosis of Collodion Baby was established by clinical features and histopathological studies. A brief review of literature was made.
A case of lamellar ichthyosis.
Dong Whan Cha, Kwan Sup Chung, Kwang Ho Kim, Duk Hyun Kim
Clin Exp Pediatr. 1982;25(9):967-971.   Published online September 30, 1982
One case of rare form of lamellar ichthyosis was reported. On admission, the entire skin surface of this infant was covered with parchment-like membrane especially below both ears and extensor surface of upper arms. Masked face, eversion of both lips and fixed semiflexion attitude of the upper limbs were also noted. Diagnosis of lamellar ichthyosis was made by clinical features, histcpathological and laboratory studies. A brief review...
A Case of Harlequin Fetus.
Eun Hee Bak, Ai Sunn Choi, Elizabeth M Nicholson, Young Shin Kwark, Jung Hee Lee
Clin Exp Pediatr. 1981;24(10):1009-1013.   Published online October 15, 1981
The Harlequin fetus-ichthyosis fetalis-is known to be rare. Recently, we experienced a case of Harlequin fetus in stillborn infant due to autosomal recessive inheritance likely. A review of literature was done briefly.