Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement

Abstract

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental delay and mental retardation. This syndrome should be distinguished from other mosaic neurocutaneous phenotypes such as as Delleman syndrome, Schimmelpenning syndrome, Goltz syndrome, Goldenhar syndrome and Proteus syndrome. Here we report a case of Haberland syndrome with bilateral involvement which underscores the extreme heterogeneity of clinical presentation of this and related syndromes.

Encephalocraniocutaneous lipomatosis

“…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…”

Lipomatosis encefalocraneocutánea: reporte de caso

“…La principal alteración dermatológica es el nevus psiloliparus 7 ; también es típica la presencia en el mismo lado de la cara de lesiones papulonodulares normocrómicas de tamaño variable en la frente, la mejilla y el párpado, que pueden corresponder a lipomas, fibrolipomas, hamartomas o nevus de tejido conjuntivo 8,9 . La principal alteración ocular son los coristomas 1 homolaterales a las lesiones cutáneas, que pueden causar ambliopía al inducir opacidad corneal, defectos de refracción o ambos 8,9 . Puede haber otras anormalidades oculares, como colobomas, microftalmia, anormalidades de la cámara anterior y calcificaciones del globo ocular.…”

Encephalocraniocutaneous Lipomatosis: Clinical Spectrum of Systemic Involvement

“…The disorder has no particular gender, racial, or geographic predisposition. Neither genetic transmission nor chromosomal abnormalities has been demonstrated (7).…”