Klekowski Nicole, Shwayder Tor
Department of Emergency Medicine, Northwestern University, Chicago, Illinois, USA.
Pediatr Dermatol. 2011 Jan-Feb;28(1):20-2. doi: 10.1111/j.1525-1470.2010.01164.x. Epub 2011 Jan 5.
Acrokeratoelastoidosis (AKE) is a rare disease that manifests as wartlike papules along the dorsal palmar junction. It is characterized by orthohyperkeratosis in the horny layer and elastorrhexis in the reticular dermis. Both sporadic and familial cases following autosomal dominant inheritance have been reported. Currently, no effective treatments exist for AKE, which can have a significant cosmetic impact. Here we present the second reported case of unilateral AKE in a 5-year-old African American girl and hypothesize that the mechanism for the unilateral nature of AKE in this patient is genetic mosaicism.
肢端角化性弹性组织变性（AKE）是一种罕见疾病，表现为沿掌背交界处的疣状丘疹。其特征为角质层正角化过度及网状真皮层弹性组织离解。散发性和常染色体显性遗传的家族性病例均有报道。目前，尚无针对AKE的有效治疗方法，该病可产生显著的美容影响。在此，我们报告第二例5岁非裔美国女孩单侧AKE病例，并推测该患者AKE单侧性的机制为基因镶嵌现象。
