RESUMEN
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.
Asunto(s)
Condrodisplasia Punctata/diagnóstico , Alopecia/sangre , Alopecia/diagnóstico , Alopecia/genética , Niño , Colesterol/sangre , Condrodisplasia Punctata/sangre , Condrodisplasia Punctata/genética , Fármacos Dermatológicos/uso terapéutico , Eccema/tratamiento farmacológico , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/sangre , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Humanos , Hipopigmentación/genética , Lactatos/uso terapéutico , Mutación , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/genética , Esteroide Isomerasas/genética , Resultado del TratamientoRESUMEN
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.