Delhi Journal of Ophthalmology

Hay-Wells Syndrome

Akshar Vasantkumar Soni, Ashok Kumar Meena, Jaishree Singh, Neeraj Agarwal
Department of Ophthalmology, Government Medical Collage, Kota, Rajasthan, India

Corresponding Author:

Akshar Vasantkumar Soni
Resident Department of Ophthalmology,
Government Medical Collage, Kota, Rajasthan, India
Email id: soniakshar@yahoo.co.in

Received: 12-MAY-2016

Accepted: 02-MAR-2017

Published Online: 29-MAR-2017

DOI:http://dx.doi.org/10.7869/djo.274

Abstract

Keywords :

Hay-Wells syndrome, also known as AEC syndrome (ankyloblepharon-ectodermal-dysplasia-clefting syndrome), is a rare genetic disorder, initially described by Hay and Wells[1] in 1976 with a pattern of autosomal dominant inheritance of varying degrees of penetrance but sporadic cases have, also been described.[2] It is caused by missense mutations in the Tumor suppressor gene TP63.[3] Most authors consider the presence of ankyloblepharon filiforme adnatum, cleft lip and/or palate and findings consistent with ectodermal dysplasia to constitute essential criteria for a diagnosis of Hay-Wells syndrome.[4]

Case Report

A 3 year old female was brought with inability to open the left eye equal as her right eye (Figure 1 & 2). She was born with Cleft lip and Cleft palate (Figure 3 & 4), cleft lip was repaired by surgery performed when she was 9 days old and cleft palate was repaired by surgery performed when she was 1 year old. She had camptodactyly (Figure 5), dental malformation (Figure 6). Her parents also reported that she has heat intolerance. She was full term normal delivery. There was no history of consanguinity or family history. Rest of systemic examaination was normal. Ocular examination ankyloblepharon filiforme adnatum (Figure 1 & 2).













Laboratory tests including complete blood count, electrolytes, liver and kidney function tests, chest radiography, USG abdomen with pelvis were within normal limits. Orthopantomography (OPG) (Figure 7) was suggestive of Dental malformation. She was operated for left eye ankyloblepharon.



Discussion

Normally, the eyelids remain fused until the fifth week of pregnancy at which time they separate. Therefore, anomalies that occur between the 7th and 15th weeks of pregnancy may result in palpebral abnormalities.[5] Ankyloblepharon may also be present in trisomy 18 and CHAND (Curly Hair-Ankyloblepharon-Nail Dystrophy) syndrome, and is associated with cardiac defects, hydrocephaly, imperforate anus and glaucoma; therefore, its presence should always serve as an alert to the possibility of another important concomitant disorder. Ectodermal dysplasias refers to a group of diseases in which defects occur in the development of the hair, teeth, nails, sweat glands and other structures originating from the ectoderm. These abnormalities, when associated with other malformations, constitute a group of ectodermal dysplasia syndromes that includes the ectrodactyly-ectodermal dysplasiaclefting (EEC) syndrome, Rapp-Hodgkin syndrome and the CHAND syndrome, which represent the principal differential diagnoses for the presently reported syndrome. Patients with Hay-Wells syndrome may present various degrees of alopecia, sparse, fair hair, onychodystrophies, palmoplantar hyperkeratosis, skin pigmentation disorder, hypohidrosis, hypodontia, dental malformations and auricular deformities, supernumerary nipples, otitis media, hypospadia, midfacial hypoplasia, hypertelorism, low stature, intellectual impairment, hypoacousia and ocular abnormalities. AEC syndrome is caused by missense mutations in the TP63 gene, a homologue of the p53 tumor suppressor gene (TP53),[2,3] Thus residing on the long-arm of chromosome 3, the Tumor Protein 63 (TP63) gene is critical for proper development and homeostasis of stratified epithelia. About 70% of cases are caused by a de novo mutation in TP63. In case of family history, prenatal diagnosis is possible by genetic testing of amniocentesis or chorionic villus sampling. The importance of the early diagnosis of this syndrome should be emphasized in order to implement appropriate genetic counselling for parents.

Overall prognosis is good with most having normal life expectancy and only mild impact on quality of life and psychosocial functioning.

References
  1. Hay RJ, Wells RS. The syndrome of ankyloblepharon, ectodermal defects, and cleft lip and palate: an autosomal dominant condition. Br J Dermatol 1976; 94:277-89.
  2. Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, et al. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome - a skin fragility phenotype. Arch Dermatol 2005; 141:1567-73.
  3. McGrath JÁ, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 2001; 10:221-9.
  4. Macias E, de Carlos F, Cobo J. Hay-Wells syndrome (AEC): a case report. Oral Dis 2006; 12:506-8.
  5. Mohamed YH, Gong H, Amenyra T. Role of apoptosis in eyelid development. Exp Eye Res 2003; 76:115-23.

CITE THIS ARTICLE

Akshar Vasantkumar Soni, Ashok Kumar Meena, Jaishree Singh, Neeraj AgarwalHay-Wells Syndrome.DJO 2017;27:299-300

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Akshar Vasantkumar Soni, Ashok Kumar Meena, Jaishree Singh, Neeraj AgarwalHay-Wells Syndrome.DJO [serial online] 2017[cited 2020 Sep 30];27:299-300. Available from: http://www.djo.org.in/articles/27/4/hay-wells-syndrome.html