Sweating ability of patients with p63-associated syndromes

Ferstl, Paul; Wohlfart, Sigrun; Schneider, Holm

doi:10.1007/s00431-018-3227-6

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…Most affected patients have nail dystrophy and dental abnormalities, including hypodontia and conical teeth [ 10 , 11 ]. Sweating may be decreased, with resultant thermal intolerance [ 12 ]. Cleft palate with or without cleft lip occurs in all AEC syndrome patients.…”

Section: Discussionmentioning

confidence: 99%

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

et al. 2021

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Introduction Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare genetic syndrome with ectodermal dysplasia. About 100 patients have been reported to date. It is associated to a heterozygous mutation of the tumor protein p63 (TP63) gene, located on chromosome 3q28. Typical clinical manifestations include: filiform ankyloblepharon adnatum (congenital adherence of the eyelids), ectodermal abnormalities (sparse and frizzy hair, skin defects, nail alterations, dental changes and hypohidrosis), and cleft lip/palate. Diagnostic suspicion is based on clinical signs and confirmed by genetic testing. Patient’s presentation We hereby report on a female newborn with erythroderma, thin lamellar desquamations, extensive skin erosions, sparse and wiry hair, filiform ankyloblepharon adnatum, agenesis of the lachrymal puncta, cleft palate and nail dysplasia. Her phenotype was compatible with AEC syndrome. Then, based on the clinical suspicion, sequencing analysis of the TP63 gene was performed, and revealed a de novo novel missense mutation. Eyelids adherence and cleft palate underwent surgical correction, while skin erosions were treated with topical antibiotics/antifungals and emollient/re-epithelizing creams. A surgical reconstruction is presently planned for the agenesis of the lachrymal puncta. The infant currently is 17 months of age and is included in a multidisciplinary follow-up. At present shows growth impairment and mild developmental delay, and typical signs of ectodermal dysplasia with small areas of dermatitis lesions on the scalp, without further abnormalities. Conclusions Our report underlines the relevance of an early and careful clinical evaluation in neonates with ankyloblefaron, facial dysmorphism, and signs of ectodermal dysplasia. In these cases, the suspicion of AEC syndrome must be promptly raised, and sequencing analysis of TP63 early performed as well. An individualized, multidisciplinary and long-term follow-up should be guaranteed to affected subjects and their families, also to identify associated morbidities and prevent possible serious complications and adverse outcomes.

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Section: Discussionmentioning

confidence: 99%

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

et al. 2021

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“…Hay-Wells or AEC syndrome is an autosomal dominant genetic disease characterized the presence of ankyloblepharon, ectodermal abnormalities (including sparse and frizzy hair, skin defects, nail alterations, dental changes, and hypohidrosis) associated with a clefting of the lip and/ or the palate. The majority of authors consider these as the cardinal features suggestive of this syndrome [ 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. It has been reported that AEC syndrome includes erythroderma at birth with desquamation, superficial erosion and crusting [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

Tajir

Lyahyai

Guaoua

et al. 2020

Balkan Journal of Medical Genetics

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Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare genetic disease with an autosomal dominant transmission, characterized by several congenital anomalies. Clinical features include ectodermal defects affecting the skin, hair, teeth, nails and sweat glands, associated with typical eyelid fusion in addition to a cleft lip and/or palate. The diagnosis is based on clinical criteria and molecular genetic testing of TP63 gene, the gene related to AEC syndrome. In this context, most reported mutations induce an amino acid change in the sterile alpha motif (SAM) domain, and are predicted to disrupt protein-protein interactions. We here describe the case of a 2-year-old Moroccan girl diagnosed with AEC syndrome on the basis of clinical features. The molecular studies and bioinformatics tools revealed a novel heterozygous missense mutation c.1798G>C (p.Gly600Arg) in exon 14 of the TP63 gene, that was not found in her parents. The molecular analysis and the early diagnosis of this syndrome are important to offer appropriate genetic counseling and management to patients and their families.

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“…Characteristic features include split hand/foot deformity (ectrodactyly),[ 50 ] light-colored hair that is sparse, coarse, and dry, sparse eyebrows and eyelashes, thin, brittle nails, xerosis with variable sweating[ 51 ] and cleft lip/palate [ Figure 4 ]. Other features include dental anomalies, midface hypoplasia, syndactyly, oligodactyly, absent lacrimal puncta (leading to keratitis, blepharitis, dacrocystitis, corneal ulcers), genitourinary anomalies[ 52 ] and endocrine abnormalities.…”

Section: (C) Disorders Of the Tp63 Pathwaymentioning

confidence: 99%

Ectodermal Dysplasia – An Overview and Update

Dev,

Malhi,

Mahajan

2024

Indian Dermatology Online Journal

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Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.

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Sweating ability of patients with p63-associated syndromes

Cited by 6 publications

References 9 publications

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up

Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

Ectodermal Dysplasia – An Overview and Update

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