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Mutations in the EDA, EDAR, and EDARADD genes are known to cause HED, encoding for proteins critical during the embryonic development of the ectoderm and mesoderm. The gene EDA accounts for 95% of cases of HED. The genes EDAR and EDARADD are also known to cause rare autosomal dominant and recessive forms of HED, which ANOTHER syndrome falls under. This subclass of mutations accounts for 5% of HED.
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Ectodermal
Dysplasia has a rare incidence estimated between 1/10,000 – 1/100,000 births. The most common subclass is HED, characterized by absence or significantly reduced exocrine glands. The mode of inheritance is usually X-linked recessive traits carried by a female carrier manifesting in males.
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Clinical diagnosis occurs in the setting of episodes of hyperpyrexia with associated physical exam findings of hypodontia, sparse hair, unexplained allergic skin rashes and recurrent respiratory infections. Definitive diagnosis occurs based on
Molecular
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Multidisciplinary, collaborative supportive therapy that may include close follow up with ENT, SLP, pulmonologist, and dentists. Cases involving severe pulmonary complication can be considered for lung transplantation.
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Symptoms present in early childhood and can include sparse hair, abnormal dentition and hypohidrosis, heat intolerance, asthma, eczema, glaucoma, recurrent respiratory infections, and recurrent unexplained fevers.
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Thornton, Christina S.; Puttagunta, Lakshmi; Helmersen, Douglas; Thakrar, Mitesh V.; Nagendran, Jayan; Lien, Dale; Varughese, Rhea A. (2021-11-05).
228:"ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review"
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for mutations in the described genes above, and the distribution and number of sweat pores and amount of sweat produced.
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Lung biopsy often demonstrates multifocal bronchiectasis with areas of peribronchial fibrosis.
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Presents in early childhood with progressive respiratory decline and eventual failure
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Supportive therapy with consideration of lung transplantation and dental implants
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Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
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This condition is inherited in an autosomal recessive manner
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James, William; Berger, Timothy; Elston, Dirk (2005).
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International
Journal of Clinical Pediatric Dentistry
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292:"Ectodermal Dysplasia: A Genetic Review"
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121:Epidemiology and pathogenesis
180:List of cutaneous conditions
107:respiratory tract infections
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232:Respirology Case Reports
205:. (10th ed.). Saunders.
115:ectodermal dysplasia
111:Autosomal recessive
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175:Skin lesion
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130:Pathology
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270:34765225
169:See also
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