Encephalocraniocutaneous lipomatosis

Moog, Ute

doi:10.1136/jmg.2009.066068

Cited by 118 publications

(259 citation statements)

References 48 publications

(78 reference statements)

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“…Nonetheless, it has been noted that the severity of the neurologic lesions do not correlate with the severity of neurologic manifestations or the degree of skin and ocular lesions. 1 Skeletal findings that have been described among ECCL patients include jaw tumors and multiple bone cysts. Congenital heart defects have also been observed in some patients.…”

Section: Case Reportmentioning

confidence: 99%

“…ECCL patients may also present with colobomas, corneal and scleral abnormalities, aniridia, microphthalmia and globe calcification. 1 Clinically, ECCL patients present with a wide range of neurological manifestations -from having normal development without seizures to having intractable seizures and severe mental and psychomotor delay. Imaging studies reveal variable brain and spinal anomalies, including lipomas, calcifications, hemispheric atrophy, and hydrocephalus.…”

Section: Case Reportmentioning

confidence: 99%

“…1 Our patient fulfilled one major skin criterion (proven nevus psiloliparus) and one minor skin criterion (subcutaneous lipoma on the frontotemporal region). He also had a choristoma (major eye criterion) and a coloboma (minor criterion).…”

Section: Case Reportmentioning

confidence: 99%

“…A study conducted by Moog in 2009, identified 54 cases of ECCL. 1 Review of these cases, PubMed and the Health Research and Development Network (HERDIN) revealed no reported cases of ECCL in a Filipino.…”

Section: Introductionmentioning

confidence: 99%

“…ECCL patients present with a broad spectrum of clinical manifestations, often in a unilateral distribution. 1,2 The hallmark of ECCL is the nevus psiloliparus, a soft, bulging, lipomatous scalp lesion, with associated alopecia. A study conducted by Moog in 2009, identified 54 cases of ECCL.…”

Section: Introductionmentioning

confidence: 99%

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

Pardo¹,

Nicolas²

2013

J Dermatol Case Rep

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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)

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Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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