The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome
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Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the clinicalmanifestations of some patients may overlap with Clouston syndrome. A 34-year-old femalepatient came to our department with a complain of “sparse hair, rough skin, photophobiaand deafness for more than 30 years.” We found that the proband and two other familymembers (57-year-old mother and 4-year-old daughter) had similar clinical manifestations:systemic hair loss, generalized skin hyperkeratosis, especially in the metacarpophalangealarea. Subungual hyperkeratosis, finger/toenail dystrophy, as well as photophobia andepiphora. According to the investigation, one of the family members also had similar clinicalmanifestations (grandfather of the proband) and he’s died. The other three members of thefamily had no hearing impairment, and all patients had typical nail dystrophy, hair loss andpalmoplantar hyperkeratosis, similar like as seen in Clouston syndrome, so we suspected todiagnose the case as Clouston syndrome. However, after genetic testing, it was found that theproband, his mother and daughter all had p.Asp50Asn heterozygous mutations in the GJB2gene, and no mutation was detected in GJB6. The modified diagnosis was KID syndrome.
Abstract
Keratitis-ichthyosis-deafness (KID) syndrome has genetic heterogeneity, and the clinicalmanifestations of some patients may overlap with Clouston syndrome. A 34-year-old femalepatient came to our department with a complain of “sparse hair, rough skin, photophobiaand deafness for more than 30 years.” We found that the proband and two other familymembers (57-year-old mother and 4-year-old daughter) had similar clinical manifestations:systemic hair loss, generalized skin hyperkeratosis, especially in the metacarpophalangealarea. Subungual hyperkeratosis, finger/toenail dystrophy, as well as photophobia andepiphora. According to the investigation, one of the family members also had similar clinicalmanifestations (grandfather of the proband) and he’s died. The other three members of thefamily had no hearing impairment, and all patients had typical nail dystrophy, hair loss andpalmoplantar hyperkeratosis, similar like as seen in Clouston syndrome, so we suspected todiagnose the case as Clouston syndrome. However, after genetic testing, it was found that theproband, his mother and daughter all had p.Asp50Asn heterozygous mutations in the GJB2gene, and no mutation was detected in GJB6. The modified diagnosis was KID syndrome.
참고문헌 (16)
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