6533b85bfe1ef96bd12bbce9
RESEARCH PRODUCT
Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63
Mandy SchierzGiovanni Corsellosubject
0301 basic medicine03 medical and health sciences030104 developmental biology0302 clinical medicinebusiness.industryGeography Planning and DevelopmentMedicineManagement Monitoring Policy and Lawbusiness030217 neurology & neurosurgerydescription
An Italian female newborn presented with cleft palate, erythroderma, desquamations, skin erosions, ankyloblepharon filiforme adnatum, broad nasal root, short philtrum, thin vermillion border, maxillary hypoplasia, microstomia, microglossia, cupped ears, hypoplasia of the distal phalange of left index, widely spaced nipples and polythelia. The hallmarks of ankyloblepharon-ectodermal dysplasia-clefting syndrome (or Hay-Wells syndrome) as well as persistent scalp erosions led to exclude more frequent skin disorders like congenital ichthyosiform erythroderma or epidermolysis bullosa and to diagnose Hay-Wells syndrome by genetic analysis. Target sequencing of the tumour protein p63 (TP63) gene revealed a novel heterozygous missense mutation I576T in exon 13 (c. 1727T>C) in the sterile alpha motive domain. The paper reports the clinical features, differential diagnoses and prognosis in TP63-related ectodermal dysplasia.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2021-04-30 | Medico e Bambino pagine elettroniche |