Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature

Hajjar, Waseem; Alrajeh, Areej; Alturki, Lulwah S; Alnassar, Sami; Hajjar, Adnan W

doi:10.4103/atm.atm_402_17

Cited by 2 publications

(3 citation statements)

References 8 publications

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“…• Ataxia-telangiectasia 6 • Brain-lung-thyroid syndrome 7,8 • Cystic fibrosis 9 • Dyskeratosis congenita/short telomere syndromes 2,10 • FLNA-associated periventricular heterotopia 11 • Gaucher disease 12 • Hermansky-Pudlak syndrome 13,14 • Interstitial lung and liver disease 15 • Marfan syndrome 16 • Myhre syndrome 17 • Niemann-Pick disease 18,19 • Primary ciliary dyskinesia 20 • Primary immunodeficiencies* , 21 • Protein alveolar proteinosis 22 • Surfactant deficiencies 23 • Williams syndrome 24 • Autosomal recessive polycystic kidney disease 25,26 • Birt-Hogg-Dubé syndrome 27,28 • Cutis Laxa 29 • Cystic fibrosis 30 • DICER1-related disorders 31 • FLNA-associated periventricular heterotopia 11 • Homocystinuria 32 • Loeys-Dietz syndrome 33 • Marfan syndrome 34 • Primary ciliary dyskinesia 35 • Tuberous sclerosis 36 • Vascular Ehlers Danlos syndrome 37 • 22q11.2 Microdeletion syndrome 38 • Ataxia-telangiectasia 39 • Bloom syndrome 40 • Chediak-Higashi syndrome 41 • Hermansky-Pudlak syndrome 42 • Hypohidrotic ectodermal dysplasia 43 • Nijmegen breakage syndrome 44 • Primary immunodeficiencies* , 21 • Trisomy 21 45 Respiratory distress of the newborn Bronchiectasis Pulmonary arterial hypertension…”

Section: Diffuse Lung Diseasementioning

confidence: 99%

“… Autosomal recessive polycystic kidney disease 25,26 Birt‐Hogg‐Dubé syndrome 27,28 Cutis Laxa 29 Cystic fibrosis 30 DICER1 ‐related disorders 31 FLNA ‐associated periventricular heterotopia 11 Homocystinuria 32 Loeys‐Dietz syndrome 33 Marfan syndrome 34 Primary ciliary dyskinesia 35 Tuberous sclerosis 36 Vascular Ehlers Danlos syndrome 37 …”

Section: Test Selectionmentioning

confidence: 99%

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The future is here: Integrating genetics into the pediatric pulmonary clinic

Hawley

Moschovis

et al. 2020

Pediatric Pulmonology

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Recognition of underlying genetic etiologies of disease is increasing at an exponential rate, likely due to greater access to and lower cost of genetic testing. Monogenic causes of disease, or conditions resulting from a mutation or mutations in a single gene, are now well recognized in every subspecialty, including pediatric pulmonary medicine; thus, it is important to consider genetic conditions when evaluating children with respiratory disease. In the pediatric pulmonary clinic, genetic testing should be considered when multiple family members present with similar or related clinical features and when individuals have unusual clinical presentations, such as early-onset disease or complex, syndromic features. This review provides a practical guide for genetic diagnosis in the pediatric pulmonary setting, including a review of genetic concepts, considerations for test selection and results in interpretation, as well as an overview of genetic differential diagnoses for common pediatric pulmonary phenotypes. Genetic conditions that commonly present to the pediatric pulmonary clinic are reviewed in a companion article by Yonker et al. K E Y W O R D S DNA/RNA technologies, genetics/genome-wide association studies, immunology and immunodeficiency, interstitial lung disease, pulmonary vascular disorders

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Section: Diffuse Lung Diseasementioning

confidence: 99%

Section: Test Selectionmentioning

confidence: 99%

The future is here: Integrating genetics into the pediatric pulmonary clinic

Hawley

Moschovis

et al. 2020

Pediatric Pulmonology

View full text Add to dashboard Cite

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“…CL can be congenital or acquired. 1 Congenital type is accompanied by systemic complications, such as pulmonary, cardiac and vascular complications. 2 Cutis laxa is very rare, with an estimated incidence of one in 4 million.…”

Section: Introductionmentioning

confidence: 99%

Congenital cutis laxa with multi-system involvement

2020

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<p class="abstract">Cutis laxa is a heterogeneous group of inherited and acquired rare connective tissue disease characterized by loose, wrinkled, and inelastic skin. It clinically presents as loose skin with folds giving a premature aged appearance. Cutis laxa is very rare, with an estimated incidence of one in 4 million. There are many case reports on acquired cutis laxa but very few on “congenital” cutis laxa. Authors report a 15 years old female presenting with a history of recurrent respiratory tract infections since the age of 2 years associated with flaccid skin all over her body and extensive loose folds of skin over face, neck, abdomen, arms and thighs since birth. Cutis laxa has been diagnosed based on the clinical picture and histopathological appearance. No medical treatment is available for correction of the pathology of disease. Plastic surgery remains the only modality of treatment to improve the cosmetic appearance. Systemic abnormalities need specific treatment depending upon the condition. The purpose of this report is due to its rarity and involvement of skin, hairs, respiratory, cardiovascular and genitourinary system in a single patient.</p>

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Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature

Cited by 2 publications

References 8 publications

The future is here: Integrating genetics into the pediatric pulmonary clinic

The future is here: Integrating genetics into the pediatric pulmonary clinic

Congenital cutis laxa with multi-system involvement

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