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June 20, 2011

Multiple Café au Lait Macules and Crowe Sign—Diagnosis

Author Affiliations
 

MARY S.STONEMDSOONBAHRAMIMDCARRIE ANN R.CUSACKMDSENAIT W.DYSONMDMOLLY A.HINSHAWMDARNI K.KRISTJANSSONMD

Arch Dermatol. 2011;147(6):735-740. doi:10.1001/archdermatol.2011.126-b

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.

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