01 December 2017 : Case report
Encephalocraniocutaneous Lipomatosis: Haberland Syndrome
Rare diseaseSelçuk Özdoğan1ABCDEF*, Ceyhun Saymaz2BCD, Cumhur Kaan Yaltırık3AE, Hanife Gülden Düzkalır4CD, Mustafa Kaya5DF, Nail Demirel1AB, Ali Haluk Düzkalır6EF, Başar Sarıkaya7BC, Berrin Aktekin8ADE
Am J Case Rep 2017; 18:1271-1275
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
25 May 2023 : Case reportNeuroendocrine Carcinoma of the Extrahepatic Bile Ducts: A Case Report
Am J Case Rep In Press; DOI: 10.12659/AJCR.939239
24 May 2023 : Case reportAn 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 reportSuccessful 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 reportSuccessful 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 reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347