A 7‐year‐old boy first presented to us for management of severe atopic eczema. He had previously been diagnosed with asthma and multiple food allergies. At birth, he had a small patent ductus arteriosus, which closed within the first month of life. At the age of 6 years, he had been diagnosed with sagittal synostosis, which required surgical correction due to development of raised intracranial pressure. He also had mild learning difficulties, but was otherwise well.Physical examination revealed hypertelorism, frontal prominence of the forehead, a wide nasal bridge, low‐set ears and presence of pectus excavatum (Fig. a) He had relative macrocephaly with growth retardation. He was also noted to have multiple lentigines scattered over his trunk and extremities with a few larger café‐au‐lait macules, which had been present since the age of 6 years.(a) The patient showed the characteristic facial features of Noonan syndrome, and (b) also had multiple lentigines and hypopigmented macules.The patient was kept under follow‐up. At the age of 8 years, he developed multiple guttate hypopigmented macules (Fig. b) There was no family history of similar pigmentary abnormalities.Referral to the Clinical Genetics department at this point did not identify a unifying diagnosis, as karyotyping and sequencing of the FGFR2 and FGFR3 genes
Clinical & Experimental Dermatology – Wiley
Published: Jan 1, 2018
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