A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

Meshram, Girish Gulab; Kaur, Neeraj; Hura, Kanwaljeet Singh

doi:10.4103/jfmpc.jfmpc_20_17

Cited by 15 publications

(26 citation statements)

References 9 publications

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“…As a result, the treating physician should pay extra attention to newborns and young children. Life expectancy is typical after three years of life [ 2 ]. Management of ED depends on the organ affected and early intervention is of paramount importance to an effective and successful management of such a disease [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…It can also affect the development of other embryonic ectodermal organs such as parts of the eyes, ears, neural and adrenal tissues to various degrees [ 1 ]. Fortunately, ectodermal dysplasia is considered to be a relatively rare disorder, with an estimated incidence of around seven cases per 100,000 people [ 2 ]. There are two main types of ectodermal dysplasia based on the degree of sweat gland function.…”

Section: Introductionmentioning

confidence: 99%

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Ectodermal Dysplasia: A Case Report

Alshegifi¹,

Alamoudi²,

Alrougi³

et al. 2022

Cureus

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Ectodermal dysplasia (ED) is a hereditary genetic disorder that manifests a variety of deformities in one or more of the ectodermal derivatives. Ectodermal derivatives originate from ectodermal layers during embryonic development, such as skin, nails, hair, teeth, and exocrine glands. Over 150 variants of ED are reported in the literature. It has an incidence of seven in every 100,000 live births. There are two types of ED, which are hypohidrotic (anhidrotic) and hydrotic. The types are classified according to the degree of function of the sweat glands. This report discusses the case of a 13-month-old Saudi girl with typical features of ectodermal dysplasia who presented to a dermatology clinic.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Ectodermal Dysplasia: A Case Report

Alshegifi¹,

Alamoudi²,

Alrougi³

et al. 2022

Cureus

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“… 4 The genetic inheritance of HIEDs depends on the underlying genetic anomaly with X‐linked inheritance associated with the ectodysplasin A (EDA, locus Xq12‐q13.1, encoding ligand EDA‐A1) gene and autosomal inheritance with EDA receptor (EDAR) and EDAR‐associated death domain protein (EDARADD). 5 Together, these genes are responsible for EDA production, a critical signalling protein in embryogenesis that discerns the ectoderm and mesoderm. 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 The ectoderm–mesoderm interactions form the basis for development of skin, hair, nails, teeth and sweat glands.…”

Section: Discussionmentioning

confidence: 99%

ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

Thornton

Puttagunta

Helmersen

et al. 2021

Respirology Case Reports

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Ectodermal dysplasias (EDs) are a heterogeneous rare group of disorders with an incidence at 1/100,000 live births. Currently, there are limited case reports of patients requiring lung transplantation. Here, we report two brothers who present with a constellation of features including alopecia, nail dystrophy, ophthalmic complications, thyroid disease, hypohidrosis, ephelides, enteropathy and recurrent respiratory tract infections, known as ANOTHER syndrome, a rare autosomal recessive variant of ED. Both presented in early childhood with progressive respiratory decline and eventual failure. Chronic respiratory decline was refractory to standard therapy. Both patients required lung transplantation for sequelae of end‐stage lung disease. Pathology demonstrated multifocal bronchiectasis with areas of fibrosis and small airway obstruction. ANOTHER syndrome is rare with a paucity of data in the literature. Given the limited therapeutic options available with natural progression towards respiratory failure, lung transplantation may be considered.

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“…There are other ectodermal structures that could be involved in ED, such as mammary glands, thyroid glands, thymus anterior pituitary, adrenal medulla, central nervous system, melanocytes, external ear, lacrimal gland and duct, conjunctiva, cornea, and meibomian glands . The incidence of ED is approximately seven cases per 10, 000 live births …”

Section: Introductionmentioning

confidence: 99%

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

Foo

Khor

Jelani

et al. 2019

The Journal of Gene Medicine

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Background Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder arising from the abnormal development of ectoderm derived structures, including skin, hair, nails, teeth and glands. These patients have sparse hair on the whole body, including the scalp, as well as hypoplastic teeth. They have no resistance to heat as a result of abnormal sweat glands. In total, four genes, namely ectodysplasin A (EDA), ectodysplasin A receptor (EDAR), EDAR‐associated death domain protein (EDARADD) and Wnt family member 10A (WNT10A), are known to be involved in the etiology of HED. Methods In the present study, we investigated two consanguineous Kashmiri families (A &B) with an autosomal recessive form of HED. Using whole exome sequencing and different bioinformatics tools, we detected a recurrent mutation causing severe HED. Results We identified an already known rare homozygous missense (NM_022336 c.1300 T>C; p.W434R; minor allele frequency 0.00007) variant in exon 12 of the EDAR gene. This variant segregated with a homozygous form in all patients and their obligate carriers were heterozygous. A panel of > 100 unrelated ethnically matched controls was screened, and the mutation was not identified outside the families. Furthermore, the candidate variant is predicted to be damaging by in silico software giving a CADD (Combined Annotation Dependent Depletion) score of 25.5, which indicates that the variant is among the top 1% of the deleterious variants in the human genome. Conclusions The identification of the same homozygous mutation segregating with disease in two different families supports the important role of the gene in the development of the disorder and this may contribute to novel approaches, prenatal diagnosis and genetic counseling of families with EDAR related disorders.

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A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

Cited by 15 publications

References 9 publications

Ectodermal Dysplasia: A Case Report

Ectodermal Dysplasia: A Case Report

ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families

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