A Filipino male with encephalocraniocutaneous lipomatosis (Haberland’s syndrome)

Abstract

Background: Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland's Syndrome, is a sporadically occurring neurocutaneous syndrome with no gender or race predilection. ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with associated alopecia. Main observations:We describe a case of a 2-month-old Filipino male with a soft, ill-defined mass with associated alopecia on the fronto-parietal scalp. Biopsy revealed findings consistent with a nevus psiloliparus. The patient also presented with a lipomatous nodule on the right temple, as well as choristomas and a coloboma on the right eye. He had no history of seizures and development was at par with age. Conclusion:Recognition of ECCL is important in order to work-up the patient for concomitant problems, such as central nervous system and cardiac anomalies, and employ a multidisciplinary approach in the management of these patients. (J Dermatol Case Rep. 2013; 7(2): 46-48)

Encephalocraniocutaneous lipomatosis (Haberland syndrome): A mild case with bilateral cutaneous and ocular involvement

“…ECCL or Haberland syndrome was first described as an example of ectomesodermal dysgenesis. 1 , 2 , 3 , 4 , 5 , 6 , 7 The condition does not have a gender, race, or geographic predisposition and is usually diagnosed at birth with nonprogressive cutaneous abnormalities of the face and scalp, along with benign ocular tumors. 2 , 3 …”

“…Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome , is a rare neurocutaneous condition first described by Haberland and Perou in 1970. 1 , 2 , 3 , 4 , 5 , 6 , 7 Most ECCL patients present with characteristic lipomatous hamartomas with overlying alopecia in a unilateral distribution on the scalp and ipsilateral scleral lipoepidermoid cysts, excrescences of the eyelid, and notching of the eyelid. 1 , 2 , 3 , 5 , 7 , 8 The subcutaneous fatty mass with nonscarring alopecia seen in patients with ECCL is better known as a nevus psiloliparus and is the dermatologic hallmark of the condition.…”

“… 1 , 2 , 3 , 4 , 5 , 6 , 7 Most ECCL patients present with characteristic lipomatous hamartomas with overlying alopecia in a unilateral distribution on the scalp and ipsilateral scleral lipoepidermoid cysts, excrescences of the eyelid, and notching of the eyelid. 1 , 2 , 3 , 5 , 7 , 8 The subcutaneous fatty mass with nonscarring alopecia seen in patients with ECCL is better known as a nevus psiloliparus and is the dermatologic hallmark of the condition. 1 , 4 , 5 , 6 Because of the nonprogressing nature of the lesions involved, most patients with ECCL live nearly normal lives with the exception of an increased chance of epileptic seizures, mild-to-moderate mental retardation, and motor impairment that all correlate with the presence of cerebral malformations or growths, such as intracranial lipomas, spinal lipomas, arachnoid cysts, atrophy of a hemisphere, porencephalic cysts, dilated ventricles, hydrocephalus, and calcifications.…”

A Very Rare Cause of Localized Nonscarring Alopecia: Nevus Psiloliparus- a case Review

“…The exact mode of inheritance for ECCL is still unknown. However, it is most likely considered that it can be result of an autosomal mosaicism [5,10]. On the other hand, NP is a less known mesodermal nevus of the scalp [4] which affects both sexes equally [1][2][3].…”

Tip of an Iceberg: Skull Fracture as an Adult Presentation of Encephalocraniocutaneous Lipomatosis

“…Oculocerebrocutaneous syndrome (Delleman Oorthuys syndrome) has some similar features but the most typical cutaneous manifestation is a supra-auricular hypoplastic skin defect as opposed to the nevus psiloliparus [2, 7, 10, 11]. Oculoectodermal syndrome (Toriello-Lacassie-Droste syndrome) does not involve intracranial lipomas and may be a forme fruste of ECCL [8, 12–14]. The family of epidermal naevus syndromes also overlap with ECCL but involve an alternate range of epidermal naevus manifestations to the typical nevus psiloliparus [2, 7].…”