Multiple Verruciform Xanthomas in the Setting of Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome.

[child syndrome]

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD ) syndrome is a rare X-linked dominant disease characterized by peculiar cutaneous presentations and skeletal abnormalities . Verruciform xanthoma (VX )-like histologic changes occasionally occur in CHILD syndrome , but typical VX-like lesions coexisting with CHILD syndrome are rare . In this study we report a rare case of multiple , coexisting VXs on the vulva and left lower limb of an 11 -year -old Chinese girl who also exhibited the typical clinical presentations and limb defects of CHILD syndrome . Histologic and immunohistochemical analyses showed that the lesions were typical VXs .

Diseases
Validation

Diseases presenting "skeletal abnormalities" symptom

22q11.2 deletion syndrome

aromatase deficiency

child syndrome

dentin dysplasia

dentinogenesis imperfecta

erdheim-chester disease

gm1 gangliosidosis

holt-oram syndrome

kabuki syndrome

kallmann syndrome

kindler syndrome

neonatal adrenoleukodystrophy

primary hyperoxaluria type 1

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated