Il neonato con gli occhi socchiusi. La displasia ectodermica legata al gene TP63

2021 ◽  
Vol 24 (4) ◽  
pp. 101-104
Author(s):  
Mandy Schierz ◽  
Giovanni Corsello
Keyword(s):  
Genetic Analysis ◽  
Cleft Palate ◽  
Epidermolysis Bullosa ◽  
Ectodermal Dysplasia ◽  
Maxillary Hypoplasia ◽  
Distal Phalange ◽  
Target Sequencing ◽  
Wells Syndrome ◽  
Congenital Ichthyosiform Erythroderma ◽  
Short Philtrum

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.

Cleft Lip and Palate Repair in Hay-Wells/Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

2007 ◽  
Vol 44 (3) ◽  
pp. 335-339 ◽  
Author(s):  
David S. Cabiling ◽  
Albert C. Yan ◽  
Donna M. McDonald-McGinn ◽  
Elaine H. Zackai ◽  
Richard E. Kirschner
Keyword(s):  
Wound Healing ◽  
Cleft Palate ◽  
Cleft Lip ◽  
Autosomal Dominant ◽  
Cleft Lip And Palate ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Autosomal Dominant Disorder ◽  
Palate Repair ◽  
Wells Syndrome

Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome is a rare autosomal dominant disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. Mutations in the p63 gene recently have been shown to be etiologic in the majority of cases of ankyloblepharon-ectodermal dysplasia-clefting syndrome. To date, there have been no reports to document wound healing after cleft lip and/or palate repair in ankyloblepharon-ectodermal dysplasia-clefting patients. We describe two patients with ankyloblepharon-ectodermal dysplasia-clefting syndrome and provide a review of the literature. There have been no reported instances of wound healing complications in affected patients. Seventeen percent (3/18) of reported patients required revisions or repair of oronasal fistulae. Cleft lip and palate repair can be performed safely in patients with Hay-Wells syndrome.

Disorders of The Epidermis: Differentiation and Kinetics

2012 ◽  
Author(s):  
Virginia P. Sybert
Keyword(s):  
Epidermolysis Bullosa ◽  
Chondrodysplasia Punctata ◽  
Palmoplantar Keratoderma ◽  
Epidermolysis Bullosa Simplex ◽  
Lipid Storage Disease ◽  
Netherton Syndrome ◽  
Epidermolysis Bullosa Dystrophica ◽  
Pityriasis Rubra Pilaris ◽  
Epidermolytic Hyperkeratosis ◽  
Congenital Ichthyosiform Erythroderma

Ichthyoses – Bullous Congenital Ichthyosiform Erythroderma – Continual Peeling Skin – Harlequin Fetus – Ichthyosis Bullosa of Siemens – Ichthyosis Hystrix – Ichthyosis Vulgaris – Lamellar Exfoliation of the Newborn – Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma – Netherton Syndrome – Restrictive Dermopathy – X-linked Recessive Ichthyosis – Erythrokeratodermas – Erythrokeratodermia Variabilis – Pityriasis Rubra Pilaris – Progressive Symmetric Erythrokeratoderma – Acrokeratoderma – Acrokeratoelastoidosis – Acrokeratosis Verruciformis (HOPF) – Hereditary Palmoplantar Keratodermas – Hereditary Palmoplantar Keratoderma with Deafness – Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis – Hereditary Palmoplantar Keratoderma Howel-Evans – Hereditary Palmoplantar Keratoderma Olmsted – Hereditary Palmoplantar Keratoderma Punctate – Hereditary Palmoplantar Keratoderma Striata – Hereditary Palmoplantar Keratoderma Unna-Thost – Hereditary Palmoplantar Keratoderma Vohwinkel – Keratolytic Winter Erythema – Mal de Meleda – Papillon-Lefèvre – Scleroatrophic and Keratotic Dermatosis of the Limbs – Porokeratoses – Porokeratosis of Mibelli – Other Disorders of the Epidermis – Absence of Dermatoglyphics – Acanthosis Nigricans – Darier-White Disease – Hereditary Painful Callosities – Keratosis Follicularis Spinulosa Decalvans – Knuckle Pads – Kyrle/Flegel Disease – Ulerythema Ophryogenes – Syndromic Disorders – CHILD Syndrome – Chondrodysplasia Punctata – Ichthyosis with Hypogonadism – KID Syndrome – Neu-Laxova Syndrome – Neutral Lipid Storage Disease with Ichthyosis – Refsum Disease – Richner-Hanhart Syndrome – Sjögren-Larsson Syndrome – Cohesion – Epidermolysis Bullosa – Epidermolysis Bullosa Simplex Dowling-Meara – Epidermolysis Bullosa Simplex Generalized – Epidermolysis Bullosa Simplex Localized – Epidermolysis Bullosa Junctional Generalized – Epidermolysis Bullosa Junctional Generalized Atrophic Benign – Epidermolysis Bullosa Dystrophica Cockayne-Touraine – Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens – Epidermolysis Bullosa Dystrophica Pretibial – Transient Bullous Dermolysis of the Newborn – Hailey-Hailey Disease

scholarly journals Case report of dystrophic epidermolysis bullosa confirmed by genetic analysis

2015 ◽  
Vol 3 ◽  
pp. 200-202
Author(s):  
Danielius Serapinas ◽  
Egle Aukstuoliene ◽  
Marius Sukys
Keyword(s):  
Case Report ◽  
Genetic Analysis ◽  
Epidermolysis Bullosa ◽  
Dystrophic Epidermolysis Bullosa

Hay-wells syndrome of ectodermal dysplasia

2006 ◽  
Vol 73 (1) ◽  
pp. 101-101 ◽  
Author(s):  
M. L. Kulkarni ◽  
Shilpa Deshmukh ◽  
Deepa Matani ◽  
K. Gayatri
Keyword(s):  
Ectodermal Dysplasia ◽  
Wells Syndrome

Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families

2013 ◽  
Vol 72 (1) ◽  
pp. 72-74 ◽  
Author(s):  
Muhammad Farooq ◽  
Mazen Kurban ◽  
Ryo Iguchi ◽  
Ossama Abbas ◽  
Atsushi Fujimoto ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Epidermolysis Bullosa
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