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

Abstract 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 alope...

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Autores principales:	Christina S. Thornton, Lakshmi Puttagunta, Douglas Helmersen, Mitesh V. Thakrar, Jayan Nagendran, Dale Lien, Rhea A. Varughese
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	ANOTHER syndrome ectodermal dysplasia lung transplantation Diseases of the respiratory system RC705-779
Acceso en línea:	https://doaj.org/article/d4a840a6c88c47e89e2c6716ef1d7ad7
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spelling	oai:doaj.org-article:d4a840a6c88c47e89e2c6716ef1d7ad72021-11-25T13:46:30ZANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review2051-338010.1002/rcr2.872https://doaj.org/article/d4a840a6c88c47e89e2c6716ef1d7ad72021-12-01T00:00:00Zhttps://doi.org/10.1002/rcr2.872https://doaj.org/toc/2051-3380Abstract 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.Christina S. ThorntonLakshmi PuttaguntaDouglas HelmersenMitesh V. ThakrarJayan NagendranDale LienRhea A. VarugheseWileyarticleANOTHER syndromeectodermal dysplasialung transplantationDiseases of the respiratory systemRC705-779ENRespirology Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ANOTHER syndrome ectodermal dysplasia lung transplantation Diseases of the respiratory system RC705-779
spellingShingle	ANOTHER syndrome ectodermal dysplasia lung transplantation Diseases of the respiratory system RC705-779 Christina S. Thornton Lakshmi Puttagunta Douglas Helmersen Mitesh V. Thakrar Jayan Nagendran Dale Lien Rhea A. Varughese ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
description	Abstract 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.
format	article
author	Christina S. Thornton Lakshmi Puttagunta Douglas Helmersen Mitesh V. Thakrar Jayan Nagendran Dale Lien Rhea A. Varughese
author_facet	Christina S. Thornton Lakshmi Puttagunta Douglas Helmersen Mitesh V. Thakrar Jayan Nagendran Dale Lien Rhea A. Varughese
author_sort	Christina S. Thornton
title	ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
title_short	ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
title_full	ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
title_fullStr	ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
title_full_unstemmed	ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
title_sort	another syndrome—familial presentations of progressive lung disease leading to double lung transplantation: a case report and literature review
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/d4a840a6c88c47e89e2c6716ef1d7ad7
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ANOTHER syndrome—Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review

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