Hay-wells syndrome of ectodermal dysplasia
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《美国医学杂志》
Department of Pediatrics, JJMMC, Devangere, Karnataka, India
Clinical Details
A newborn term was born to a consanguineously married couple, with characteristics (Ankyloblepharon filiforme adenatum) of Hay-Wells syndrome. The baby also had alopecia, with no eyebrows and eyelashes, fused upper and lower eyelids, microphthalmia (left), microcornia (left), hypertelorism, depressed nasal bridge, broad flat nose with anteverted nares, cleft upper lip(right side), right preauricular tag, low set crumpled ear on left side, dry peeling skin and dysplastic nails.
Discussion
Hay-Wells syndrome, also known as Ankyloblephron-ectodermal dysplasia-clefting (AEC) syndrome (OMOM 106260), is a rare autosomal dominant disorder characterized by broad nose, cleft lip lateral, coarse/thick hair, decreased sweating, lid adhesions/ ankyloblepharon, dysplastic/thick/grooved toe nails, sparse/absent scalp hair (genralised), cleft palate enamel anomaly, tooth shape anomaly, anodontia/ oligodontia, absent/decreased lashes, micrognathia/ retrognathia, abnormal dental position, absent/ decreased eyebrows, palmoplanter hyperkeratosis and increased skin pigmentation.[1]
Differential diagnosis includes Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), acro-dermato-ungual-lacrimal tooth syndrome (ADULT).[1],[2] Mutation in p63 gene which is required for craniofacial and limb development is suggested as a likely gene accounting for AEC phenotype.[3]Figure1
References
1. McGrath JA, Duijf P HG, Doetsch V et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 Hum Molec Genet 2001; 10 : 221-229.
2. Hay R J, Wells R S. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Brit J Derm 1976; 94 : 287-289.
3. Fomenkov A, Huang YP, Topaloglu O et al. P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 2003; 278 : 23906-14.(Kulkarni ML, Deshmukh Shi)
Clinical Details
A newborn term was born to a consanguineously married couple, with characteristics (Ankyloblepharon filiforme adenatum) of Hay-Wells syndrome. The baby also had alopecia, with no eyebrows and eyelashes, fused upper and lower eyelids, microphthalmia (left), microcornia (left), hypertelorism, depressed nasal bridge, broad flat nose with anteverted nares, cleft upper lip(right side), right preauricular tag, low set crumpled ear on left side, dry peeling skin and dysplastic nails.
Discussion
Hay-Wells syndrome, also known as Ankyloblephron-ectodermal dysplasia-clefting (AEC) syndrome (OMOM 106260), is a rare autosomal dominant disorder characterized by broad nose, cleft lip lateral, coarse/thick hair, decreased sweating, lid adhesions/ ankyloblepharon, dysplastic/thick/grooved toe nails, sparse/absent scalp hair (genralised), cleft palate enamel anomaly, tooth shape anomaly, anodontia/ oligodontia, absent/decreased lashes, micrognathia/ retrognathia, abnormal dental position, absent/ decreased eyebrows, palmoplanter hyperkeratosis and increased skin pigmentation.[1]
Differential diagnosis includes Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), acro-dermato-ungual-lacrimal tooth syndrome (ADULT).[1],[2] Mutation in p63 gene which is required for craniofacial and limb development is suggested as a likely gene accounting for AEC phenotype.[3]Figure1
References
1. McGrath JA, Duijf P HG, Doetsch V et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63 Hum Molec Genet 2001; 10 : 221-229.
2. Hay R J, Wells R S. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Brit J Derm 1976; 94 : 287-289.
3. Fomenkov A, Huang YP, Topaloglu O et al. P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 2003; 278 : 23906-14.(Kulkarni ML, Deshmukh Shi)