Utility of Neonatal Findings in Early Diagnosis of a Case of Haberland Syndrome

Abstract

Haberland syndrome or encephalocraniocutaneous lipomatosis (ECCL) is a rare, congenital syndrome characterized by lipomas and noncancerous tumors of the scalp, skin, and eyes, in addition to intellectual disability, early onset seizures, and ectomesodermal dysgenesis. The diagnosis of ECCL is classically made by clinical presentation, imaging, and histopathological findings, but due to the spectrum of clinical presentation and symptom severity, diagnosis is often delayed until adolescence or adulthood. Here we present a newborn male infant, one of the earliest case diagnoses to our knowledge, with a unique constellation of physical exam and neuroimaging findings consistent with this diagnosis. We aim to address important neonatal findings to aid in early detection and diagnosis of this unique disease, which is thought to improve clinical outcomes and patient quality of life.

Keywords

Haberland syndrome - encephalocraniocutaneous lipomatosis - neonatal - nevus psiloliparus - mosaicism

^* These authors contributed equally to this work.

Publication History

Received: 20 January 2021

Accepted: 30 May 2021

Article published online:
19 July 2021

• References

• 1 Haberland C, Perou M. Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 1970; 22 (02) 144-155
• 2 Özdoğan S, Saymaz C, Yaltırık CK. et al. Encephalocraniocutaneous lipomatosis: Haberland syndrome. Am J Case Rep 2017; 18: 1271-1275
• 3 Moog U. Encephalocraniocutaneous lipomatosis. J Med Genet 2009; 46 (11) 721-729
• 4 Zahariev ZI, Peycheva MV, Dobrev HP. A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome). Folia Med (Plovdiv) 2009; 51 (04) 46-48
• 5 Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M. Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 2003; 28 (04) 387-390
• 6 Stieler KM, Astner S, Bohner G. et al. Encephalocraniocutaneous lipomatosis with didymosis aplasticopsilolipara. Arch Dermatol 2008; 144 (02) 266-268
• 7 Pardo IA, Nicolas ME. A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). J Dermatol Case Rep 2013; 7 (02) 46-48
• 8 Romiti R, Rengifo JA, Arnone M, Sotto MN, Valente NY, Jansen T. Encephalocraniocutaneous lipomatosis: a new case report and review of the literature. J Dermatol 1999; 26 (12) 808-812
• 9 Koishi GN, Yoshida M, Alonso N, Matushita H, Goldenberg D. Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature. Clinics (São Paulo) 2008; 63 (03) 406-408
• 10 Richters RJH, Seyger MMB, Meeuwis KAP, Rinne T, Eijkelenboom A, Willemsen MA. Oculoectodermal syndrome - encephalocraniocutaneous lipomatosis associated with NRAS mutation. Acta Derm Venereol 2020; 100 (08) adv00103
• 11 Ardinger HH, Horii KA, Begleiter ML. Expanding the phenotype of oculoectodermal syndrome: possible relationship to encephalocraniocutaneous lipomatosis. Am J Med Genet A 2007; 143A (24) 2959-2962
• 12 Peacock JD, Dykema KJ, Toriello HV. et al. Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Am J Med Genet A 2015; 167 (07) 1429-1435
• 13 Boppudi S, Bögershausen N, Hove HB. et al. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin Genet 2016; 90 (04) 334-342
• 14 Banta J, Beasley K, Kobayashi T, Rohena L. Encephalocraniocutaneous lipomatosis (Haberland syndrome): a mild case with bilateral cutaneous and ocular involvement. JAAD Case Rep 2016; 2 (02) 150-152
• 15 López Sousa M, Varela Iglesias J, Bouzón Alejandro M, Lojo Rodríguez M, Pérez Muñuzuri A, Fernández Lorenzo JR. Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral. [Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage] An Pediatr (Barc) 2007; 66 (06) 619-621