1985
DOI: 10.1001/archderm.121.6.799
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Keratitis, ichthyosis, and deafness syndrome with glycogen storage

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Cited by 16 publications
(15 citation statements)
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“…These include most commonly Scheibe malformations, however, nonspecific cochlear malformations as in the present case, have also been reported [12]. There are several reports associating KID Syndrome with DandyWalker malformation [13][14][15][16] as well as several additional reports on the occurrence of left cerebellar atrophy and hypoplasia of the inferior vermis in KID Syndrome [17,18]. GJB2 analysis was not carried out however in any of the above studies and this report is the first to detail Dandy-Walker malformation in the setting of KID Syndrome where an underlying abnormality of GJB2 has been identified.…”
Section: Discussionsupporting
confidence: 50%
“…These include most commonly Scheibe malformations, however, nonspecific cochlear malformations as in the present case, have also been reported [12]. There are several reports associating KID Syndrome with DandyWalker malformation [13][14][15][16] as well as several additional reports on the occurrence of left cerebellar atrophy and hypoplasia of the inferior vermis in KID Syndrome [17,18]. GJB2 analysis was not carried out however in any of the above studies and this report is the first to detail Dandy-Walker malformation in the setting of KID Syndrome where an underlying abnormality of GJB2 has been identified.…”
Section: Discussionsupporting
confidence: 50%
“…In addition, an increased susceptibility to mucocutaneous infections and squamous cell carcinoma has been noted (Caceres-Rios et al, 1996). The rare occurrence of partial leukonychia or knuckle pads in KIDS (Jurecka et al, 1985;Shiraishi et al, 1994;Kone-Paut et al, 1998) emphasizes the clinical overlap with Bart-Pumphrey syndrome (BPS). The molecular cause of both Vohwinkel and KID syndrome are distinct germline mutations in GJB2 encoding the gap junction protein connexin-26 (Cx26) (Maestrini et al, 1999;Kelsell et al, 2000;Richard et al, 2002;van Steensel et al, 2002).…”
mentioning
confidence: 99%
“…3 Increased glycogen storage has been reported in one case, which was interpreted as evidence of an underlying inborn error of metabolism. 4 We report the first case of KID syndrome occurring in association with carotenaemia.…”
Section: Reportmentioning
confidence: 88%
“…Metabolic disturbance of glycogen has been previously reported in KID syndrome. 4 Three types of carotenaemia have been described (Table 1): 10 (i) carotenaemia may arise from excessive dietary intake of carotene containing foods. This is the most common cause of carotenaemia, particularly in individuals with eating disorders.…”
Section: Reportmentioning
confidence: 99%