Conradi-Hünermann-Happle syndrome with minimal signs
| Autor: | Antonio Torrelo, Rudolf Happle, Lucero Noguera-Morel, Angela Hernández-Martín, Nelmar Valentina Ortiz Cabrera, Manuel Agud-Dios, Isabel Colmenero |
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| Rok vydání: | 2021 |
| Předmět: |
Scalp alopecia
medicine.medical_specialty Chondrodysplasia Punctata Physical examination Dermatology Eye Happle Syndrome Epidermal atrophy medicine Humans Genetic testing integumentary system medicine.diagnostic_test Ichthyosis business.industry Alopecia medicine.disease Trunk Child Preschool Face Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Skin Abnormalities Female business |
| Zdroj: | Pediatric dermatologyREFERENCES. 38(6) |
| ISSN: | 1525-1470 |
| Popis: | A 4-year-old girl presented with congenital patches of scalp alopecia, which on physical examination, was consistent with blaschkolinear alopecic patches with mild epidermal atrophy. Similar atrophic hypopigmented patches were seen on the trunk and proximal extremities. With the clinical suspicion of Conradi-Hunermann-Happle syndrome, genetic testing was performed and revealed a mutation in the EBP gene. Despite characteristic cutaneous findings, no skeletal, ocular, or other anomalies were found on further evaluation. |
| Databáze: | OpenAIRE |
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