PMC5768533_01
(A) Features of the patient showing disseminated cafe-au-lait spots, axillary freckling, and cutaneous neurofibromas. (B) It shows a heterogeneously enhancing 3.3 x 2.6 cm-sized, high-attenuation adrenal mass axial contrast enhanced computed tomography (CT) abdomen. (C) 18F-fluorodeoxyglucose positron emission tomography/CT and (D) iodine-131 metaiodobenzylguanidine scintigraphy shows the mass localized in the right adrenal gland. Arrows denote adrenal mass.
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Although bleeding was stabilized and a follow-up abdominal CT showed complete regression of the duodenal hematoma, a heterogeneously enhancing mass in the right adrenal gland (3.3 x 2.6 cm) and high attenuation value was still noted (> 20 Hounsfield unit) (Fig. 1A). As a result, the patient was referred to the Endocrinology Department. Upon physical examination, it was found that he had multiple cafeau-lait spots, axillary freckling, and many cutaneous neurofibromas (Fig. 1B). Fluorine-18 fluorodeoxyglucose- positron emission tomography and 123I-metaiodobenzylguanidine scintigraphy confirmed a localized increased uptake in the right adrenal gland (Fig. 1C and 1D).
Pedigree shows clinical phenotype of family members. Arrow denotes the index patient; solid symbols, affected; open symbols, unaffected; slashed symbols, deceased; +/-, mutation carrier. Among the family members, genetic analysis was performed on two sisters with informed consent (who showed skin manifestations suspicious of NF1 [neurofibromatosis type 1]).
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To detect a possible mutation in NF1, we performed a genetic analysis of the patient and his two sisters who showed clinical signs of NF1 (Fig. 2).
Sequence analysis of the patient reveals a novel heterozygous mutation, 1-nucleotide deletion (c.6533delT) of the NF1 (neurofibromatosis type 1) gene in the case and his two sisters (II2, II4).
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Genetic analysis of the index patient detected a novel germline NF1c.6533delT in exon 43 of the NF1 gene, and the identical germline mutation was found in both sisters (other family members refused genetic analysis) (Fig. 3).