Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Yotsapon Thewjitcharoen; Soontaree Nakasatien; Veekij Veerasomboonsin; Sandra T.F. Tsoi; Cadmon K.P. Lim; Thep Himathongkam

doi:10.12659/AJCR.947141

05 April 2025 : Case report Thailand

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Challenging differential diagnosis, Rare coexistence of disease or pathology

Yotsapon Thewjitcharoen^1ABCDEF*, Soontaree Nakasatien

^1BE, Veekij Veerasomboonsin

^2BE, Sandra T.F. Tsoi^345BC, Cadmon K.P. Lim^345CDEF, Thep Himathongkam^1DE

DOI: 10.12659/AJCR.947141

Am J Case Rep 2025; 26:e947141

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Figure 1. Physical examination in this patient revealed A) multiple café-au-lait spots spread over the skin of the trunk, B) multiple cutaneous neurofibromas across the body, C) axillary freckling.

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Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

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