Cardiac manifestations of cutaneous disorders

O’Neill, Jenna L.; Narahari, Swetha; Sane, David C.; Yosipovitch, Gil

doi:10.1016/j.jaad.2012.06.016

Cited by 10 publications

(28 citation statements)

References 69 publications

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“…While the hair phenotype is observed very early in life (first months) and the keratodema develops around 1 year of age, cardiac symptoms appear only during adolescence and can lead to sudden cardiac death. Therefore, the combination of woolly hair and palmoplantar keratoderma should lead to immediate cardiac evaluation (eg, ECG, echocardiography) and the implantation of a defibrillator 21. This is one of the few cases where the dermatologist or the geneticist can save lives by proper evaluation and diagnosis.…”

Section: Introductionmentioning

confidence: 99%

The twisting tale of woolly hair: a trait with many causes

Ramot

Zlotogorski

2015

J Med Genet

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Woolly hair is an uncommon condition among non-black people, which may be an isolated finding or associated with additional clinical symptoms. When woolly hair is accompanied by palmoplantar keratoderma, it may herald a deadly cardiomyopathy, and therefore this condition should alert the physician for a heart disorder. Until recently, the underlying causes for this rare phenotype were obscure, and only three genes were associated with this condition. However, in recent years, many more genes were found to underlie this disorder, uncovering new molecular pathways. Better knowledge of the different mechanisms that control the curliness of hair may offer new treatment options for this condition, and may also make it possible to affect hair texture in general.

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Section: Introductionmentioning

confidence: 99%

The twisting tale of woolly hair: a trait with many causes

Ramot

Zlotogorski

2015

J Med Genet

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“…www.odermatol.com Carney complex, previously reported as NAME (Nevi, Atrial myxoma, Myxoid neurofibromas, and Ephelides) and LAMB (Lentigines, Atrial myxoma, Mucocutaneous myxoma, and Blue nevi) syndromes, is inherited as either an AD or X-linked disorder as a result of mutations in the PRKAR1A gene [3]. Our patient did not have Carney's complex as his cutaneous tumor was not associated with non-cutaneous myxomas, pigmentation of the skin or mucous membrane, or endocrine disorders.…”

Section: Discussionmentioning

confidence: 99%

An unusual case of superficial (Cutaneous) angiomyxomas

Nagaraja¹,

Jampani²,

Peddireddy³

et al. 2014

Our Dermatol Online

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“…predominant gene affected in NS is PTPN11 (50%), followed by the SOS1, KRAS, RAF1, BRAF, and MAPK2K1 genes. 1,3,4 Cutaneous manifestations encountered in NS consist of multiple melanocytic nevi, 2 keratosis pilaris (KP), cutis verticis gyrata, ulerythema ophryogenes, transient lymphedema, a webbed neck with a low hairline, and dystrophic nails. 1,[3][4][5][6] Though no clear genotypephenotype relationship exists in NS, patients with the SOS1 gene mutation present with more cutaneous findings (ie, KP or curly hair) as compared to those with mutations in the PTPN11 gene.…”

mentioning

confidence: 99%

“…1,3,4 Cutaneous manifestations encountered in NS consist of multiple melanocytic nevi, 2 keratosis pilaris (KP), cutis verticis gyrata, ulerythema ophryogenes, transient lymphedema, a webbed neck with a low hairline, and dystrophic nails. 1,[3][4][5][6] Though no clear genotypephenotype relationship exists in NS, patients with the SOS1 gene mutation present with more cutaneous findings (ie, KP or curly hair) as compared to those with mutations in the PTPN11 gene. 3 Congenital heart defects occur in two-thirds of patients, with pulmonary valve stenosis being the most common, 7,8 followed by hypertrophic cardiomyopathy (HCM) and atrial septal defects (ASD).…”

mentioning

confidence: 99%

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

Jones

Patel

Valikodath

et al. 2021

Pediatric Dermatology

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Often dermatologists are the first providers to examine patients presenting with cutaneous manifestations of an occult cardiovascular disease. Significant morbidity and mortality exist between conditions with comorbid cardiovascular and cutaneous findings, and clinicians should be cognizant of such associations. From a cardiology standpoint, an initial workup will vary based on the reason for referral but frequently consists of upper and lower extremity blood pressure, a focused history of present illness (ie, associated symptoms of exertional chest pain, exertional syncope or syncope of unknown etiology, positional chest pain), family history (rule out cardiomyopathy, sudden cardiac death, etc), and a focused physical examination with an emphasis on cardiopulmonary systems. If any concerning findings are present, a complete echocardiogram will be performed to assess for pathology, which will guide the next steps. Given the care needed to treat these patients, this review aims to provide the tools needed to aid dermatologists in detecting underlying cardiovascular diseases by their associated cutaneous findings. | CONG ENITAL C ARDIOVA SCUL AR DISE A SE | RAS/MAPK pathway disordersRas is a small but important GTPase that induces the mitogen-activated protein kinase (MAPK) cascade, a critical mechanism for all cells during embryological development. Dysregulation of the Ras-MAPK pathway leads to the characteristic craniofacial phenotypes with underlying cardiac, cutaneous, musculoskeletal, and ocular abnormalities.Mutations in the Ras/MAPK pathway result in numerous syndromes, the most common of which include Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, neurofibromatosis type 1, and Noonan with multiple lentigines. These are discussed below. | Noonan syndromeNoonan syndrome (NS) is characterized by congenital heart defects and cutaneous manifestations, among other clinical findings. 1,2 The

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Cardiac manifestations of cutaneous disorders

Cited by 10 publications

References 69 publications

The twisting tale of woolly hair: a trait with many causes

The twisting tale of woolly hair: a trait with many causes

An unusual case of superficial (Cutaneous) angiomyxomas

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart

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