Abstract
Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis–ichthyosis–deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.
Highlights
Two rare congenital disorders, keratitis–ichthyosis–deafness (KID) syndrome [OMIM 148210] and Clouston syndrome [OMIM 129500], are caused by mutations in genes coding connexin proteins (GJB2 and GJB6, respectively), and both of them have skin manifestation.Despite the malfunctioning of proteins from the same family and some overlapping of such clinical features as nail dystrophy, hair loss, and palmoplantar keratoderma, the clinical picture of these syndromes differs significantly.KID syndrome is a very rare congenital autosomal dominant disorder of keratinization with abnormal differentiation of the epidermis and aberrant formation of the cornified layer
There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis–ichthyosis–deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively
KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma
Summary
Keratitis–ichthyosis–deafness (KID) syndrome [OMIM 148210] and Clouston syndrome (hidrotic ectodermal dysplasia 2) [OMIM 129500], are caused by mutations in genes coding connexin proteins (GJB2 and GJB6, respectively), and both of them have skin manifestation.Despite the malfunctioning of proteins from the same family and some overlapping of such clinical features as nail dystrophy, hair loss, and palmoplantar keratoderma, the clinical picture of these syndromes differs significantly.KID syndrome is a very rare congenital autosomal dominant disorder of keratinization with abnormal differentiation of the epidermis and aberrant formation of the cornified layer. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma.
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