MARY S.STONEMDSOONBAHRAMIMDCARRIE ANN R.CUSACKMDSENAIT W.DYSONMDMOLLY A.HINSHAWMDARNI K.KRISTJANSSONMD
Histopathologic examination showed basal hyperpigmentation without an increased number of melanocytes. Polymerase chain reaction amplification of complementary DNA SPRED1 gene and mutational analysis by direct sequencing were performed. A c.781delT germline-dominant loss-of-function mutation in exon 8 of the SPRED1 gene (15q13.2) was identified. Genetic counseling was given to the patient.
Yearly follow-up controls (cutaneous, ophthalmological, and neurological examination) were recommended. During the past 4 years, no additional cutaneous or extracutaneous features have been noted. No cutaneous findings of neurofibromatosis type 1 were identified among the patient's relatives.
Multiple Café au Lait Macules and Crowe Sign—Diagnosis. Arch Dermatol. 2011;147(6):735-740. doi:10.1001/archdermatol.2011.126-b