Pigmentierte Flecken als mögliche Frühzeichen genetischer Syndrome

Hamm, Henning; Emmerich, K.; Olk, J.

doi:10.1007/s00105-019-4416-6

Cited by 7 publications

(8 citation statements)

References 29 publications

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“…1 Cardiovascular disease in psoriasis has been previously studied using techniques such as positron emission tomography (PET) and cardiac computed tomography (cCT). 2 Ionizing radiation makes these less-appealing modalities, particularly in younger patients and for repeated measures. Our goal was to determine whether myocardial oedema and inflammation are differentially increased in psoriasis patients, consistent with what has been detected in patients with myocarditis and systemic lupus erythematosus using techniques previously described.…”

Section: Doi: 101111/jdv16485mentioning

confidence: 99%

Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines

Lenormand

Soskin

Lipsker

2020

Acad Dermatol Venereol

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Section: Doi: 101111/jdv16485mentioning

confidence: 99%

Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines

Lenormand

Soskin

Lipsker

2020

Acad Dermatol Venereol

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“…Infectious cellulitis, necrotizing fasciitis and inflammatory breast carcinomas should be considered in the differential diagnosis of these lesions. 1,2 In patients with mammary PG, the nipple-areola complex (NAC) is not usually kept. A similar situation was observed as Bork-Baykal phenomenon in congenital melanocytic lesions in which the NAC was not held.…”

Section: Funding Sourcementioning

confidence: 99%

A retrospective study of myocardial abnormalities detected on cardiac magnetic resonance imaging among patients with psoriasis compared to inflammatory skin disease controls

Goldenberg

Reynolds

Smart

et al. 2020

Acad Dermatol Venereol

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Endocrine tumours. The most characteristic is the primary pigmented nodular adrenocortical disease (PPNAD), responsible of Cushing syndrome in symptomatic individuals. Growth hormone-producing adenoma, LCCSCT, thyroid adenoma and carcinoma are other endocrinologic manifestations. 3 Psammomatous melanotic schwanomma, a rare tumour of the nerve sheath that occurs in approximatively 10% of patients with CNC, especially of the gastrointestinal tract and spinal nerve roots; and breast ductal adenoma, a benign tumour of the mammary glands. Carney complex is an autosomal dominant disorder but approximatively 30% of cases occur sporadically. The following surveillance is recommended 3 : For prepubertal children: echocardiography annually (or biannually for those with a history of excised myxoma); testicular ultrasound with close monitoring of linear growth rate and annual pubertal staging. For postpubertal children and adults: echocardiogram annually or biannually for those with a history of excised myxoma; annual testicular ultrasound; baseline thyroid ultrasound with repeat as necessary; baseline transabdominal ultrasound of the ovaries with repeat as necessary; annual urinary free cortisol levels; annual serum IGF-1 levels. Acknowledgement The patient in this manuscript has given written informed consent to the publication of his case details.

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“…Cafe-au-lait spots (CALS) or cafe-au-lait macules (CALM) are characteristically well-defined lesions, with a homogeneous light brown or medium to dark brown spots in dark-skinned people, that might be found all over the body except for the scalp, palms and soles (Hamm, Emmerich & Olk, 2019). Morphologically, they have been described as oval-shaped and with smooth edges or irregular contours, ranging in size from 0.2 cm to 30 cm in diameter, being smaller in young children since they increase proportionally to the body surface (Fistarol & Itin, 2010;Shah, 2010;Hamm et al, 2019). Histologically, they present increased melanin content in both melanocytes and basal keratinocytes, with giant melanosomes also being observed (Shah, 2010).…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…CALM may be present at birth or develop in the first years of life, which occurs in most cases (Hamm et al, 2019). Isolated CALM is a common finding (10-36% of healthy people) with no clinical significance when dissociated from other findings (Rivers et al, 1985;Hamm et al, 2019). However, the presence of multiple CALMs, large segmental CALM, other cutaneous anomalies, associated facial dysmorphism or unusual findings on physical examination, may suggest the possibility of an associated genetic disease and should be promptly investigated (Shah, 2010).…”

Section: Introductionmentioning

confidence: 99%

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Cafe-au-lait spots as a clinical sign of syndromes

Carvalho

Martelli

Carvalho³

et al. 2021

RSD

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Several studies describe the frequent association of cafe-au-lait spots with neurofibromatosis. However, many other genetic diseases might be associated with the presence of café-au-lait spots. Several genetic diseases are rare. In most cases, syndromes present themselves as a set of signs and symptoms that may present varied penetrance, therefore largely reducing the percentage of final diagnosis. Exploration of clinical symptomatology is essential for the understanding and diagnosis of syndromes. In this review, we conduct an extensive literature search looking for research that investigated diseases that may be present simultaneously with the cafe-au-lait spots. A total of 60 genetic diseases were found, all of them rare. These syndromes were evaluated based on their most relevant features and described in a summary of the typical, general, and head and neck findings. The available OMIM number, mode of inheritance, chromosome, mutated genes, and affected proteins were also listed. The considerable variety of diseases associated with the presence of cafe-au-lait spots and the fact that many of these conditions affect various organ systems with diverse phenotypic presentations is a diagnostic and therapeutic challenge. The objective of this study was to provide health professionals with an instrument containing a broad spectrum of genetic diseases coincident with the presence of cafe-au-lait spots in order to facilitate the differential and final diagnosis of these syndromes.

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Pigmentierte Flecken als mögliche Frühzeichen genetischer Syndrome

Cited by 7 publications

References 29 publications

Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines

Pigmented spots on the lacrimal caruncle: a key to the diagnosis of Carney complex in a child with multiple lentigines

A retrospective study of myocardial abnormalities detected on cardiac magnetic resonance imaging among patients with psoriasis compared to inflammatory skin disease controls

Cafe-au-lait spots as a clinical sign of syndromes

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