eISSN: 2299-0046
ISSN: 1642-395X
Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii
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5/2018
vol. 35
 
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abstract:
Review paper

Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes

Rafał Pokrowiecki
,
Piotr Chomik
,
Maciej Borowiec
,
Krzysztof Dowgierd
,
Anna Starzyńska

Adv Dermatol Allergol 2018; XXXV (5): 437-441
DOI: https://doi.org/10.5114/pdia.2017.70330
Online publish date: 2018/07/19
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Noonan, Costello and LEOPARD syndromes belong to a family of cardiofaciocutaneous disorders and share common genetic traits. As they are associated with a germline mutation in genes encoding proteins involved in RAS/MAPK, patients suffering from these syndromes are at a greater risk of cancer and abnormal myelopoiesis in infancy. Patients with cardio faciocutaneous syndromes share some clinically overlapping syndromes, therefore differential diagnosis can be problematic. In this paper we aim at demonstrating distinctive craniofacial and cutaneous manifestations of Noonan, Costello and LEOPARD syndromes which can be useful for clinicians who aim at treatment of children with rare diseases.
keywords:

Noonan, Costello, LEOPARD, craniofacial, cutaneous
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