Clinicopathologic Evaluation of Cardiofaciocutaneous Syndrome: Overcoming the Challenges of Diagnosing a Rare Genodermatosis

Bryan, Zachary; Missall, Tricia A.; Stieren, Stacy; Siegfried, Elaine C.; Burkemper, Nicole M.

doi:10.1111/pde.12494

Cited by 5 publications

(2 citation statements)

References 9 publications

(19 reference statements)

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“…Three cardinal dermatological manifestations of CFCS include KP, hyperkeratosis, and ichthyosis. 11 Around 80% of patients will have follicular keratoses of the arms, legs, and face. 2 Concerning hair, ≥90% of patients typically have sparse, curly, and slow-growing hair, and ulerythema ophryogenes (Figure 1) with sparse eyebrows.…”

Section: Cardio-facio-cutaneous Syndromementioning

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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Section: Cardio-facio-cutaneous Syndromementioning

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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“…CFC and CS also have various clinical similarities and few differences compared with NS (25). Previously, clinical discrimination between these three syndromes was predominantly based on respective characteristic features, including hyperkeratotic skin, ichthyosis and keratosis pilaris in CFC patients; and soft and loose skin, deep palmar/plantar creases, nasal papillomas and an increased risk of developing malignancies in those with CS (31,32). However, as the reported cases of RASopathies increase, these distinct features have also become highly overlapped.…”

Section: The Rasopathies With Calmmentioning

confidence: 99%

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Zhang

Yao

2016

Molecular Medicine Reports

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Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto-oncogene receptor tyrosine kinase and Ras/mitogen-activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone. Furthermore, certain syndromes are clinically overlapping and molecular testing is a vital diagnostic method. The present review aims to provide an overview of these ‘NF1-like’ inherited diseases and recommend a cost-effective strategy for making a clear diagnosis among these diseases with an ambiguous borderline.

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Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options

Wang

Orlow

2018

Am J Clin Dermatol

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Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Histopathologic, genomic, and epidemiologic evidence points to keratosis pilaris as a primary disorder of the pilosebaceous unit as a result of inherited mutations or acquired disruptions in various biomolecular pathways. Recent data highlight aberrant Ras signaling as an important contributor to the pathophysiology of keratosis pilaris and its subtypes. We also evaluate data on treatments for keratosis pilaris and its subtypes, including topical, systemic, and energy-based therapies. The effectiveness of various types of lasers in treating keratosis pilaris and its subtypes deserves wider recognition.

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Clinicopathologic Evaluation of Cardiofaciocutaneous Syndrome: Overcoming the Challenges of Diagnosing a Rare Genodermatosis

Cited by 5 publications

References 9 publications

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

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

Molecular screening strategies for NF1-like syndromes with café-au-lait macules

Keratosis Pilaris and its Subtypes: Associations, New Molecular and Pharmacologic Etiologies, and Therapeutic Options

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