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

1226 6

In Press

25 May 2023 : Case report  Latvia

Neuroendocrine Carcinoma of the Extrahepatic Bile Ducts: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.939239  

24 May 2023 : Case report  South Africa

An Initially Missed Diagnosis of Venous Thromboembolic Phenomenon in Adult-Onset Still’s Disease: A Case Re...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939520  

24 May 2023 : Case report  Italy

Successful Surgical Removal of a Giant Serous Ovarian Cyst in a 52-Year-Old Woman with Presurgical Body Mas...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939697  

23 May 2023 : Case report  Japan

Successful Noninvasive Respiratory Management of an Infant with Bilateral Choanal Atresia and a Supernumera...

Am J Case Rep In Press; DOI: 10.12659/AJCR.939642  

Most Viewed Current Articles

06 Dec 2021 : Case report  Brazil

Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases

DOI :10.12659/AJCR.934406

Am J Case Rep 2021; 22:e934406

13 Jul 2022 : Case report  USA

Whistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound

DOI :10.12659/AJCR.936441

Am J Case Rep 2022; 23:e936441

23 Feb 2022 : Case report  USA

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

07 Dec 2021 : Case report  USA

Edwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...

DOI :10.12659/AJCR.934347

Am J Case Rep 2021; 22:e934347

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