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ANOTHER syndrome

Field	Value
name	ANOTHER syndrome
synonyms	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
image	Autosomal recessive - en.svg
image_size	160px
caption	This condition is inherited in an autosomal recessive manner
field	dermatology
symptoms	sparse hair, abnormal dentition and hypohidrosis
onset	Presents in early childhood with progressive respiratory decline and eventual failure
treatment	Supportive therapy with consideration of lung transplantation and dental implants

ANOTHER syndrome consists of alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides and enteropathy, and respiratory tract infections. It is an autosomal recessive variant of ectodermal dysplasia.

Epidemiology and pathogenesis

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. 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.

Pathology

Lung biopsy often demonstrates multifocal bronchiectasis with areas of peribronchial fibrosis.

Symptoms

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.

Diagnosis

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 genetic testing for mutations in the described genes above, and the distribution and number of sweat pores and amount of sweat produced.

Treatment

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.

References

James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
(2021-11-05). "ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review". Respirology Case Reports.
(2012). "Ectodermal Dysplasia: A Genetic Review". International Journal of Clinical Pediatric Dentistry.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

endocrine-related-cutaneous-conditions rare-syndromes

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