Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

01 December 2017 : Case report  Turkey

Encephalocraniocutaneous Lipomatosis: Haberland Syndrome

Rare disease

Selçuk Özdoğan1ABCDEF*, Ceyhun Saymaz2BCD, Cumhur Kaan Yaltırık3AE, Hanife Gülden Düzkalır4CD, Mustafa Kaya5DF, Nail Demirel1AB, Ali Haluk Düzkalır6EF, Başar Sarıkaya7BC, Berrin Aktekin8ADE

DOI: 10.12659/AJCR.907685

Am J Case Rep 2017; 18:1271-1275

Abstract

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.

Keywords: Epilepsy, Absence, Lipoma, Neurocutaneous Syndromes

Add Comment 0 Comments

In Press

Case report  China

Diagnostic Challenges in Sporadic Creutzfeldt-Jakob Disease: A Case Study of Typical Clinical Presentation ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.945795  

Case report  China

Minimally Invasive Management of Infantile Dacryocystitis with Lacrimal Abscess: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.946588  

Case report  Poland

Varicella Zoster Virus-Induced Retinitis and Retinal Detachment in an Immunocompetent Patient: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.946011  

Case report  Belgium

A 37-Year-Old Man with Multifocal Bilateral Malignant Testicular Large-Cell Calcifying Sertoli Cell Tumors ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.945910  

Most Viewed Current Articles

21 Jun 2024 : Case report  China (mainland) 88,761

Intracranial Parasitic Fetus in a Living Infant: A Case Study with Surgical Intervention and Prognosis Anal...

DOI :10.12659/AJCR.944371

Am J Case Rep 2024; 25:e944371

0:00

07 Mar 2024 : Case report  USA 50,081

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

20 Nov 2023 : Case report  Saudi Arabia 25,336

Azithromycin Treatment for Acne Vulgaris: A Case Report on the Risk of Clostridioides difficile Infection

DOI :10.12659/AJCR.941424

Am J Case Rep 2023; 24:e941424

0:00

18 Feb 2024 : Case report  Japan 22,657

A Case of Thoracic Empyema Caused by Actinomyces naeslundii

DOI :10.12659/AJCR.943030

Am J Case Rep 2024; 25:e943030

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923