Encephalocraniocutaneous Lipomatosis (Haberland’s Syndrome) - A Case Report of a Neurocutaneous Syndrome and a Review of the Literature

Koishi, Giovanna Negrisoli; Yoshida, Maurício; Alonso, Nivaldo; Matushita, Hamilton; Goldenberg, Dov Charles

doi:10.1590/s1807-59322008000300020

Cited by 14 publications

(12 citation statements)

References 13 publications

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“…In addition, 23 further patients are reviewed, all of whom meet Hunter’s criteria except one patient, who has been included because of his typical skin lesions 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53…”

Section: Methodsmentioning

confidence: 99%

Encephalocraniocutaneous lipomatosis

Moog

2009

Journal of Medical Genetics

118

249

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Section: Methodsmentioning

confidence: 99%

Encephalocraniocutaneous lipomatosis

Moog

2009

Journal of Medical Genetics

118

249

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“…Su etiología aún es desconocida y hasta el momento no se han detectado alteraciones cromosómicas; se ha considerado un mosaico probablemente de una mutación autosómica de un gen involucrado en la generación de tumores múltiples del mesénquima y de la vasculogénesis 5 . Se considera que la patogéne-sis es una disgenesia de la cresta neural cefálica y del tubo neural anterior, afectando predominantemente a los derivados del ectodermo y del mesodermo 6 . Clínicamente se caracteriza por lesiones dérmicas, oculares y del SNC.…”

Section: Discussionunclassified

Lipomatosis encefalocraneocutánea: reporte de caso

Muñoz-Montufar

Rayo-Mares

Reyes-Cuayahuitl

et al. 2017

GMM

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“…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%

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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Encephalocraniocutaneous Lipomatosis (Haberland’s Syndrome) - A Case Report of a Neurocutaneous Syndrome and a Review of the Literature

Cited by 14 publications

References 13 publications

Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis

Lipomatosis encefalocraneocutánea: reporte de caso

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

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