Encephalocraniocutaneous Lipomatosis: Haberland Syndrome
| Autor: | Nail Demirel, Ceyhun Saymaz, Mustafa Kaya, Hanife Gülden Düzkalir, Berrin Aktekin, Selcuk Ozdogan, Basar Sarikaya, Ali Haluk Duzkalir, Cumhur Kaan Yaltirik |
|---|---|
| Přispěvatelé: | Zonguldak Bülent Ecevit Üniversitesi |
| Rok vydání: | 2017 |
| Předmět: |
Male
medicine.medical_specialty Eye Diseases 030218 nuclear medicine & medical imaging 030207 dermatology & venereal diseases 03 medical and health sciences Dysgenesis 0302 clinical medicine medicine Humans Lipomatosis Nevus Child Nevus psiloliparus Neurocutaneous Syndromes business.industry Lipomatous Hamartoma Brain Syndrome Articles General Medicine Lipoma medicine.disease Dermatology medicine.anatomical_structure Epilepsy Absence Scalp Encephalocraniocutaneous Lipomatosis business |
| Zdroj: | The American Journal of Case Reports |
| ISSN: | 1941-5923 |
| DOI: | 10.12659/ajcr.907685 |
| Popis: | WOS: 000417191500001 PubMed: 29192135 Patient: Male, 11 Final Diagnosis: Haberland syndrome Symptoms: Seizure Medication: - Clinical Procedure: Medical treatment Specialty: Neurosurgery Objective: Rare disease Background: Encephalocraniocutaneous lipomatosis (ECCL) was first announced as a new type of ectomesodermal dysgenesis in 1970 by Haberland and Perou. ECCL was first described in 1970, and approximately 60 cases have been reported since then. The classic triad of ECCL are skin, ocular, and central nervous system involvement, including conditions such as unilateral porencephalic cyst, ipsilateral lipomatous hamartoma of the scalp-eyelids-eye globe, cortical atrophy, cranial asymmetry, developmental delay, seizures, mental retardation, and spasticity of the contralateral limbs. The dermatological hallmark is a hairless fatty tissue nevus of the scalp called nevus psiloliparus. Case Report: An 11-year-old right-handed boy, born at full term, was referred to our clinic. His family had no consanguinity or history of neurocutaneous disease. The patient's physical examination revealed a large hairless lesion on the right frontoparietal scalp called nevus psiloliparus. Beginning from the birth, a dermolipoma (an uncommon benign tumor) was reported to have occurred on the conjunctiva, mostly ipsilateral in his right eye and present on the ipsilateral side of the neurological abnormalities shown on magnetic resonance imaging and computed tomography. The patient had muscle weakness in left upper and lower extremities. He had a mild form of mental retardation. Conclusions: There is no specific treatment for ECCL. Management of ECCL is usually symptomatic. Surgical correction of a cutaneous lesion can be performed for cosmetic improvement. An early diagnosis of ECCL allows for early symptom treatment and improved patient quality of life. |
| Databáze: | OpenAIRE |
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