Urbach-Wiethe syndrome
| Autor: | Jyoti Ranjan Parida, Vikas Agarwal, Durga Prasanna Misra |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
medicine.medical_specialty
Pathology Adolescent media_common.quotation_subject Hand Dermatoses Oral cavity Article Consanguinity Basal Ganglia Diseases Calcinosis medicine Humans Girl media_common business.industry General Medicine medicine.disease Dermatology Normal limit Magnetic Resonance Imaging body regions Hoarse voice Urbach-Wiethe Syndrome Lipoid Proteinosis of Urbach and Wiethe Female medicine.symptom Tongue protrusion business Consanguineous Marriage Facial Dermatoses |
| Popis: | A 14-year-old girl was referred for skin tightening in the fingers. She did not have Raynaud's phenomenon, gastroesophageal reflux disease or other systemic symptoms. She had had a hoarse voice since birth and was developmentally normal. She was born of a second degree consanguineous marriage. Examination revealed pearly papules around the eyelids, face (figure 1) and fingers (figure 2), and hyperkeratotic plaque on the elbows (figure 3). Oral cavity examination revealed ankyloglossia (figure 4). Systemic examination was normal. Haemogram, and liver and renal function tests were within normal limits. Figure 1 Elder sibling—beaded pearly papules around eyelids and on face. Figure 2 Elder sibling—papules on dorsum of hands and fingers. Figure 3 Elder sibling—hyperkeratotic plaque on dorsum of elbows. Figure 4 Elder sibling—restricted tongue protrusion. The patient had a younger sibling (12 years … |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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