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VIGNETTES
Encephalocraniocutaneous Lipomatosis With Didymosis Aplasticopsilolipara
Karola Maria Stieler, MD;
Susanne Astner, MD;
Georg Bohner, MD;
Natalie Garcia Bartels, MD;
Hans Proquitté, MD;
Wolfram Sterry, MD, PhD;
Norbert Haas, MD, PhD;
Ulrike Blume-Peytavi, MD, PhD
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Report of a Case
An 11-day-old boy born to nonconsanguineous Vietnamese parents presented to our pediatric dermatology outpatient department with a congenital linear scalp and face lesion. This soft, skin-colored plaque following the lines of Blaschko was devoid of terminal hair growth and extended from the left upper eyelid up to the ipsilateral vertex. At the vertex were 3 round, elevated, bald, bullous patches and 2 round scars and hair collars (Figure 1). On the upper eyelid, 2 soft, skin-colored papules were seen. Based on the clinical evaluation, encephalocraniocutaneous lipomatosis (ECCL) was suspected.
Figure appears in full text version.
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Figure 1. Linear soft lesion extending from the vertex to the left eye and associated membranous skin defects (membranous aplasia cutis congenita) with hair collars form the didymosis aplasticopsilolipara. Note . . . [Full Text of this Article]
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Comment
Conclusions
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Encephalocraniocutaneous lipomatosis
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J. Med. Genet. 2009;46:721-729.
ABSTRACT
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