ABSTRACT
A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.
Subject(s)
Chondrodysplasia Punctata/diagnosis , Alopecia/blood , Alopecia/diagnosis , Alopecia/genetics , Child , Cholesterol/blood , Chondrodysplasia Punctata/blood , Chondrodysplasia Punctata/genetics , Dermatologic Agents/therapeutic use , Eczema/drug therapy , Female , Genetic Diseases, X-Linked/blood , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Humans , Hypopigmentation/genetics , Lactates/therapeutic use , Mutation , Skin Diseases/diagnosis , Skin Diseases/drug therapy , Skin Diseases/genetics , Steroid Isomerases/genetics , Treatment OutcomeABSTRACT
Lip plumpers are relatively new topical agents on the market that are designed to increase lip volume minutes to days after application. In this report, we describe a case of lip plumper contact urticaria in a young boy. We also discuss the mechanisms of action of lip plumpers and the sociocultural reasons for their use.
