%0 Case Reports
%T Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia.
%A Bin Rubaian NF
%A Alghamdi N
%A Alhaddad B
%A AlJanobi H
%A Alharbi AS
%J Cureus
%V 15
%N 4
%D 2023 Apr
%M 37200644
暂无%R 10.7759/cureus.37661
%X Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare syndrome described in the literature. Patchy skin hypoplasia is the most evident sign. Hyperpigmentation, hypopigmentation, papillomas, limb defects, and orofacial manifestations have also been reported. A 12-year-old Saudi girl with unremarkable family history presented with FDH. The diagnosis was confirmed using a genetic study. Physical examination revealed asymmetrical streaks of vermiculate dermal atrophy, telangiectasia with hyperpigmentation, and hypopigmentation on the left half of the face, trunk, and bilateral extremities. It appears along Blashko lines. No mental impairment was observed. Intraoral examination generalized plaque-induced gingivitis with erythematous gingival hyperplasia. Examination of the teeth showed generalized enamel hypoplasia with abnormal tooth formations, malalignment, microdontia, spacing and tilting, and minimal caries. As reported cases of FDH are rare worldwide, this syndrome is yet to be fully understood. As the manifestation of the syndrome varies among cases, the management of each case is unique. This emphasizes the importance of reporting cases of FDH.